RDI-LCRD
SEEN HEARD CARED FOR
Prof Dr Roberto Giugliani
Prof. Roberto Giugliani is Co-Founder and Director of Casa dos Raros, and Full Professor of Genetics at the Federal University of Rio Grande do Sul, in Porto Alegre, Brazil. He is a medical geneticist who founded the Medical Genetics Service of Hospital de Clinicas of Porto Alegre, and the Genetics for All Institute. He is also Vice-President of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening, Coordinator of the Brazilian National Institute of Population Medical Genetics, Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening, Director of the Latin American School of Human and Medical Genetics, and member of the Brazilian Academy of Sciences and the Rio Grande do Sul Academy of Medicine. He is former Director of the WHO Collaborating Center for the Development of Medical Genetics Services in Latin America, and past President of the Latin American Network of Human Genetics, and the Brazilian Society of Medical Genetics and Genomics. Prof. Giugliani’s main scientific interests are concentrated in screening, diagnosis, and treatment of inborn errors of metabolism, particularly the lysosomal diseases, having supervised over 100 MSc and PhD graduates, and being author/co-author of over 550 papers listed in PubMed.
Publications: 1.Delgado-Vega, A. M., et al. “Pushing the Boundaries of Rare Disease Diagnostics with the Help of the First Undiagnosed Hackathon.” Nature Genetics, vol. 56, no. 11, 2024, pp. 2287-2294. doi:10.1038/s41588-024-01941-1. PMID: 39433890. 2.Mazzonetto, P. C., et al. “Low-Pass Whole Genome Sequencing as a Cost-Effective Alternative to Chromosomal Microarray Analysis for Low- and Middle-Income Countries.” American Journal of Medical Genetics Part A, vol. 194, no. 11, 2024, article e63802. doi:10.1002/ajmg.a.63802. Epub 25 Jun 2024. PMID: 38924610. 3.Sciascia, S., et al. “Unmet Needs in Countries Participating in the Undiagnosed Diseases Network International: An International Survey Considering National Health Care and Economic Indicators.” Frontiers in Public Health, vol. 11, 26 Sept. 2023, article 1248260. doi:10.3389/fpubh.2023.1248260. PMID: 37822540; PMCID: PMC10562568. 4.Taruscio, D., et al. “Undiagnosed Diseases: Needs and Opportunities in 20 Countries Participating in the Undiagnosed Diseases Network International.” Frontiers in Public Health, vol. 11, 2 Mar. 2023, article 1079601. doi:10.3389/fpubh.2023.1079601. PMID: 36935719; PMCID: PMC10017550. 5.Félix, T. M., et al. “Challenges and Recommendations to Increasing the Use of Exome Sequencing and Whole Genome Sequencing for Diagnosing Rare Diseases in Brazil: An Expert Perspective.” International Journal for Equity in Health, vol. 22, no. 1, 13 Jan. 2023, article 11. doi:10.1186/s12939-022-01809-y. PMID: 36639662; PMCID: PMC9837951. 6.Giugliani, R., et al. “Opportunities and Challenges for Newborn Screening and Early Diagnosis of Rare Diseases in Latin America.” Frontiers in Genetics, vol. 13, 8 Dec. 2022, article 1053559. doi:10.3389/fgene.2022.1053559. PMID: 36568372; PMCID: PMC9773081. 7.Félix, T. M., et al. “Epidemiology of Rare Diseases in Brazil: Protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).” Orphanet Journal of Rare Diseases, vol. 17, no. 1, 24 Feb. 2022, article 84. doi:10.1186/s13023-022-02254-4. PMID: 35209917; PMCID: PMC8867447. 8.Ferreira, C. R., et al. “An International Classification of Inherited Metabolic Disorders (ICIMD).” Journal of Inherited Metabolic Disease, vol. 44, no. 1, Jan. 2021, pp. 164-177. doi:10.1002/jimd.12348. PMID: 33340416; PMCID: PMC9021760. 9.Pinto, E. Vairo, F., et al. “Precision Medicine for Lysosomal Disorders.” Biomolecules, vol. 10, no. 8, 26 Jul. 2020, article 1110. doi:10.3390/biom10081110. PMID: 32722587; PMCID: PMC7463721.
Dr Kym Boycott
Kym Boycott, M.D., Ph.D., FRCPC, FCCMG, is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a clinical geneticist at the Children’s Hospital of Eastern Ontario (CHEO), Chair of the Department of Genetics, and a Senior Scientist at the CHEO Research Institute. Prof. Boycott is a Tier 1 Canada Research Chair in Rare Disease Precision Health whose research program bridges clinical genomics to basic research and is focused on understanding the molecular pathogenesis of rare diseases to improve patient care and family well-being. She leads the national Care4Rare Canada Consortium, established in 2010, integrating genomic and other 'omics technologies to improve our understanding of rare diseases, focusing on solving the unsolved and most difficult rare diseases. In 2013, Prof. Boycott co-established the Canadian Rare Diseases: Models & Mechanisms Network. The network aims to facilitate connections between clinical investigators discovering new genes and basic scientists who can analyze equivalent genes and pathways in model organisms. She has made significant strides towards advancing the international rare disease agenda in her capacity as the inaugural Chair of the Diagnostics Committee of the International Rare Diseases Research Consortium, member of the Global Alliance for Genomics and Health, and member of the Global Commission to End the Diagnostic Odyssey for Children. In recognition of her contributions, she was elected to the Royal Society of Canada in 2019.
Publications:1.Boycott, Kym M., Taila Hartley, Leslie G. Biesecker, et al. "A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers." Cell, vol. 177, no. 1, 21 Mar. 2019, pp. 32-37. Elsevier, https://doi.org/10.1016/j.cell.2019.02.040. 2.Boycott, Kym M., Philippe M. Campeau, Heather E. Howley, et al. "The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms." The American Journal of Human Genetics, vol. 106, no. 2, 6 Feb. 2020, pp. 143-152. Cell Press, https://doi.org/10.1016/j.ajhg.2020.01.009. 3.Boycott, Kym M., Taila Hartley, Kristin D. Kernohan, David A. Dyment, Heather Howley, A. Micheil Innes, Francois P. Bernier, Michael Brudno, and the Care4Rare Canada Consortium. "Care4Rare Canada: Outcomes from a Decade of Network Science for Rare Disease Gene Discovery." The American Journal of Human Genetics, vol. 109, no. 11, 3 Nov. 2022, pp. 1947-1959. Cell Press, https://doi.org/10.1016/j.ajhg.2022.10.002. 4.Driver, Hannah G., Taila Hartley, E. Magda Price, Andrei L. Turinsky, Orion J. Buske, Matthew Osmond, Arun K. Ramani, et al. "Genomics4RD: An Integrated Platform to Share Canadian Deep-Phenotype and Multiomic Data for International Rare Disease Gene Discovery." Human Mutation, vol. 43, no. 6, June 2022, pp. 800-811. Wiley, https://doi.org/10.1002/humu.24354. 5.Hartley, Taila, Gabrielle Lemire, Kristin D. Kernohan, Heather E. Howley, David R. Adams, and Kym M. Boycott. "New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases." Annual Review of Genomics and Human Genetics, vol. 21, Aug. 2020, pp. 351-372. Annual Reviews, https://doi.org/10.1146/annurev-genom-083118-015345. 6.Boycott, Kym M., et al. "International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases." American Journal of Human Genetics, vol. 100, no. 5, May 2017, pp. 695-705. Cell Press, https://doi.org/10.1016/j.ajhg.2017.04.003.
Dr Lama AlAbdi
Dr. Lama AlAbdi is the Section Head of the Developmental Genetics group at the Translational Genomics Department, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre. Her PhD training was conducted in Dr. Humaira Gowher’s laboratory at Purdue University’s Department of Biochemistry, where she utilized embryonic stem cells and embryonal carcinoma cell differentiation as model systems to investigate the mechanisms of enhancer silencing failure in cancer stem cells. After earning her PhD, Dr. AlAbdi served as an Assistant Professor at King Saud University’s College of Science while maintaining a collaborative relationship with her mentor, Prof. Fowzan S Alkuraya. As a scientist in Prof. Alkuraya’s lab at King Faisal Specialist Hospital and Research Centre, Department of Translational Genomics, Dr. AlAbdi contributed to significant discoveries and co-authored numerous high-impact publications. Transitioning from a purely academic role as an Associate Professor at King Saud University, Dr. AlAbdi now continues her research and leadership at King Faisal Specialist Hospital and Research Centre.
Publications: 1.AlAbdi, Lama, Shatha Alrashseed, Ahood Alsulaiman, Rana Helaby, Faiqa Imtiaz, Mohamed Alhamed, and Fowzan S. Alkuraya. “Residual Risk for Additional Recessive Diseases in Consanguineous Couples.” Genetics in Medicine, vol. 23, no. 11, 2021, pp. 2183–2189. doi:10.1038/s41436-021-01289-5. 2.AlAbdi, Lama, et al. “Diagnostic Implications of Pitfalls in Causal Variant Identification Based on 4577 Molecularly Characterized Families.” Nature Communications, vol. 14, no. 1, 2023, article 5269. doi:10.1038/s41467-023-40909-3. 3.Monies, Dalal, Lama AlAbdi, Huda Alhassnan, Heba Faden, Areej Alosaimi, Eman Al Tala, Mohammed Alkuraya, and Fowzan S. Alkuraya. “Arab Founder Variants: Contributions to Clinical Genomics and Precision Medicine.” Human Genetics and Genomics Advances, vol. 4, no. 1, 2023, article 100174. doi:10.1016/j.xhgg.2023.100174
Prof Gareth Baynam
Prof. Gareth Baynam is the Medical Director of Rare Care – Comprehensive Rare Disease Centre, Western Australia, and Program Director of the Undiagnosed Disease Program (WA). He is a Founding Board Member of the Undiagnosed Diseases Network International and Head of the Western Australian Register of Developmental Anomalies. Prof. Baynam leads Rare Disease Moonshot Australia and co-leads LaunchR, an ecosystem for rare disease diagnosis and treatment. He is the founder of Cliniface, Project Y, and RareKind, as well as the co-founder of Lyfe Languages and the Global Nursing Network for Rare Disease.
Publications: 1.“Surfacing the Undiagnosed.” Frontiers in Pediatrics, vol. 11, 2023. 2.“Leaving No Patient Behind! Expert Recommendation in the Use of Innovative Technologies for Diagnosing Rare Diseases.” Orphanet Journal of Rare Diseases, vol. 19, no. 1, 2024. 3.“Indigenous-Led Precision Public Health: A New Starting Point.” Frontiers in Public Health, vol. 11, 2024. 4.“Pushing the Boundaries of Rare Disease Diagnostics with the Help of the First Undiagnosed Hackathon.” Genomics, Proteomics & Bioinformatics, PMID: 39433890. 5.“FastHPOCR: Pragmatic, Fast, and Accurate Concept Recognition Using the Human Phenotype Ontology.” Bioinformatics Advances, vol. 4, no. 2, 2024. 6.“Global Health for Rare Diseases Through Primary Care.” The Lancet Global Health, vol. 12, 2024. 7.“Stigma Associated with Genetic Testing for Rare Diseases—Causes and Recommendations.” Frontiers in Genetics, vol. 15, 2024. 8.“Advancing Diagnosis and Research for Rare Genetic Diseases in Indigenous Peoples.” Human Genomics, vol. 18, 2024. 9.“3D Facial Analysis for Rare Disease Diagnosis and Treatment Monitoring: Proof-of-Concept Plan for Hereditary Angioedema.” Orphanet Journal of Rare Diseases, vol. 17, 2023. 10.“Unlocking Sociocultural and Community Factors for the Global Adoption of Genomic Medicine.” Frontiers in Medicine, vol. 9, 2022. 11.“mEDUrare: Supporting Integrated Care for Rare Diseases by Better Connecting Health and Education Through Policy.” Yale Journal of Biology and Medicine, vol. 94, no. 4, 2021, pp. 693–705. 12.Baynam, Gareth, et al. “Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials.” Nature Medicine, PMID: 38977611.
Dr Juan Francisco Cabello
Dr. Juan Francisco Cabello is a pediatric neurologist specializing in inborn errors of metabolism and newborn screening. After completing a biochemical and genetics visiting fellowship at Boston Children´s Hospital in 2000, he went on to direct the Chilean national referral center for inborn errors of metabolism (Laboratory of Genetics and Metabolic Diseases of INTA, University of Chile) since 2008. In the Latin American region, he has been President of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN) between 2013-2015 and continues to be an active participant. He has worked to develop the Newborn Screening Program in his country, currently expanding the screening from 2 to 26 conditions. He advises several commissions in the Ministry of Health of his country on issues of Rare Diseases and Newborn Screening, including a national proposal for rare disease plan. Academically, Dr Cabello is an adjunct faculty in the Neurology department at Boston Children's Hospital and head of the Pediatric Neurology Training Program at the University of Valparaíso in Chile.
Prof Yong Chen
Yong Chen is a Professor of Biostatistics and Founding Director of the Center for Health AI and Synthesis of Evidence (CHASE) at the University of Pennsylvania, where he leads research in clinical evidence generation and synthesis using real-world data. He also directs the Penn Computing, Inference, and Learning (PennCIL) lab, focusing on developing methods for integrating clinical data. Dr. Chen is serving as a Statistical Editor for the Annals of Internal Medicine, a Statistical Consultant for New England Journal of Medicine-AI, and an Associate Editor for both the Journal of the American Statistical Association – Applications and Case Studies (JASA-ACS) and The Annals of Applied Statistics (AoAS). Dr. Chen’s research has been continuously supported by NIH, AHRQ and PCORI. He is currently the PI of more than 10 research awards from NIH and PCORI. In particular, his is the contact PI for an U01 award funded by NCATS on developing evidence synthesis and data integration methods using electronic health records from multiple CTSA hubs to create predictive models of rare multi-system diseases, including granulomatosis with polyangiitis (GPA, a type of vasculitis, prevalence of ~74 per million), psoriatic arthritis (PsA) (~2,500 per million), eosinophilic granulomatosis with polyangiitis (EGPA), giant cell arteritis (GCA), and ankylosing spondylitis. Dr. Chen has authored over 200 peer-reviewed papers in statistics and medical informatics. His work centers at evidence synthesis, machine learning/AI, and clinical evidence generation. He is an elected Fellow of the American Statistical Association and the American College of Medical Informatics, with joint appointments in Applied Mathematics and at the Penn Institute for Biomedical Informatics.
Dr Brian Hon-yin Chung
Dr Brian Chung Hon-yin is a Clinical Associate Professor at Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, the University of Hong Kong. Specialized in clinical genetics and genomics, Dr Chung is interested in research fields including medical application of whole genome technologies, clinical genetics, genetic counselling, precision medicine and multi-omics. He is currently the President of Asia Pacific Society of Human Genetics. Dr Chung serves as Chief Medical and Scientific Officer at Hong Kong Genome Institute to promote the city’s long-term development of genomic medicine by driving clinical application, advancing research, nurturing talents and enhancing public literacy.
Dr José Elías García-Ortiz
Dr. José Elías García Ortiz, MD, PhD, is Senior researcher and laboratory chief at Centro de Investigación Biomédica de Occidente and member of the Expert Board of Lysosomal Disorders – Instituto Mexicano del Seguro Social. Past president of the Asociacion Mexicana de Genetica Humana and current vicepresident of the Red Latinoamericana de Genética Humana. Co-director of the Latinoamerican Alliance on Omic Sciences (LatinOMICs) Education/Training: University of Coahuila, School of Medicine, MX: M.D., 1995. University of Guadalajara, MX: Master in Human Genetics, 2001, University of Guadalajara, MX: Ph.D. in Human Genetics, 2003. Postdoctoral fellowship Genetics Lab, NIA-NIH, Baltimore, MD, USA, 2002-2005. Expertise area: rare diseases, dysmorphology, metabolic diseases – lysosomal diseases – Gaucher Disease, female infertility.
Publications: 1.Guffon, N., et al. “Monitoring and Integrated Care Coordination of Patients with Alpha-Mannosidosis: A Global Delphi Consensus Study.” Molecular Genetics and Metabolism, vol. 142, no. 4, 2024, p. 108519. doi:10.1016/j.ymgme.2024.108519. 2.Mendoza-Ruvalcaba, S. D. C., et al. “Biochemical Diagnosis of Mucopolysaccharidosis in a Mexican Reference Center.” Genetics and Molecular Biology, vol. 43, no. 1, 2020, article e20180347. doi:10.1590/1678-4685-GMB-2018-0347. 3.Shaw, N. D., et al. “SMCHD1 Mutations Associated with a Rare Muscular Dystrophy Can Also Cause Isolated Arhinia and Bosma Arhinia Microphthalmia Syndrome.” Nature Genetics, vol. 49, no. 2, 2017, pp. 238–48. doi:10.1038/ng.3743. 4.Juárez-Osuna, J. A., et al. “Arylsulfatase A Pseudodeficiency in Mexico: Enzymatic Activity and Haplotype Analysis.” Molecular Genetics & Genomic Medicine, vol. 8, no. 8, 2020, article e1305. doi:10.1002/mgg3.1305. 5.García-Ortiz, J. E., et al. “Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder.” Journal of Autism and Developmental Disorders, vol. 50, no. 6, 2020, pp. 2247–51. doi:10.1007/s10803-019-03951-z. 6.Córdova-Fletes, C., et al. “Uncommon Runs of Homozygosity Disclose Homozygous Missense Mutations in Two Ciliopathy-Related Genes (SPAG17 and WDR35) in a Patient with Multiple Brain and Skeletal Anomalies.” European Journal of Medical Genetics, vol. 61, no. 3, 2018, pp. 161–67. doi:10.1016/j.ejmg.2017.11.011. 7.Becerra-Solano, L. E., et al. “Severe Craniofacial Involvement Due to Amniotic Band Sequence.” Fetal and Pediatric Pathology, vol. 37, no. 1, 2018, pp. 27–37. doi:10.1080/15513815.2017.1392663.
Dr Holm Graessner
Dr. Holm Graessner has graduated in Biomedical Engineering, Cybernetics, Electrical Engineering, German Language and Literature, Philosophy as well as Business Administration. He received his PhD “Summa cum laude” in 2004 and, then, he obtained his MBA degree in 2008. He has been Managing Director of the Rare Disease Centre, since 2010, at the University and University Hospital Tübingen, Germany. www.zse-tuebingen.de He is Coordinator (Lead PI) of the European Reference Network for Rare Neurological Diseases (ERN-RND, www.ern-rnd.eu). Together with Olaf Riess, he was leading the H2020 Solve-RD project on “Solving the unsolved rare diseases” (www.solve-rd.eu) and also co-leads the Clinical Research Network of European Rare Disease Research Alliance that has started on 1 Sept 2024. He is a founding member of the European 1 Mutation 1 Medicine initiative. Since 2020, as a fellow of the European Academy of Neurology (EAN) he has been a member of the management teams of the Neurogenetics Panel and the Rare Neurological Disease Coordinating Panel of the EAN. In 2023, he received the EURORDIS Black Pearl Award for Leadership and the first Martha and Wilfried Ensinger Award.
Publications: 1.Jonker AH, Tataru EA, Graessner H, Dimmock D, Jaffe A, Baynam G, Davies J, Mitkus S, Iliach O, Horgan R, Augustine EF, Bateman-House A, Pasmooij AMG, Yu T, Synofzik M, Douville J, Lapteva L, Brooks PJ, O’Connor D, Aartsma-Rus A; N-of-1 Task Force of the International Rare Diseases Research Consortium (IRDiRC). The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap. Nat Rev Drug Discov. 2024 Nov 4. doi: 10.1038/s41573-024-01059-3. Epub ahead of print. PMID: 39496921. 2.Maver A, Lohmann K, Borovečki F, Wolstenholme N, Taylor RL, Spielmann M, Haack TB, Gerberding M, Peterlin B, Graessner H. Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. Eur J Hum Genet. 2024 Aug;32(8):1014-1021. doi: 10.1038/s41431-024-01639-2. Epub 2024 Jun 5. PMID: 38839988; PMCID: PMC11292006. 3.Graessner H, Reinhard C, Bäumer T, Baumgärtner A, Brockmann K, Brüggemann N, Bültmann E, Erdmann J, Heise K, Höglinger G, Hüning I, Kaiser FJ, Klein C, Klopstock T, Krägeloh-Mann I, Kraemer M, Luedtke K, Mücke M, Musacchio T, Nadke A, Osmanovic A, Ritter G, Röse K, Schippers C, Schöls L, Schüle R, Schulz JB, Sproß J, Stasch E, Wunderlich G, Münchau A. Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet J Rare Dis. 2024 Feb 13;19(1):62. doi: 10.1186/s13023-024-03023-1. PMID: 38347616; PMCID: PMC10863275. 4.Tahar K, Martin T, Mou Y, Verbuecheln R, Graessner H, Krefting D. Rare Diseases in Hospital Information Systems-An Interoperable Methodology for Distributed Data Quality Assessments. Methods Inf Med. 2023 Sep;62(3-04):71-89. doi: 10.1055/a-2006-1018. Epub 2023 Jan 3. PMID: 36596461; PMCID: PMC10462432. 5.Benson M, Albanese A, Bhatia KP, Cavillon P, Cuffe L, König K, Reinhard C, Graessner H. Development of a patient journey map for people living with cervical dystonia. Orphanet J Rare Dis. 2022 Mar 21;17(1):130. doi: 10.1186/s13023-022-02270-4. PMID: 35313909; PMCID: PMC8935780. 6.Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, ‘t Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Erratum in: Eur J Hum Genet. 2021 Sep;29(9):1459-1461. doi: 10.1038/s41431-021-00936-4. PMID: 34075208; PMCID: PMC8440542. 7.Tumiene B, Graessner H. Rare disease care pathways in the EU: from odysseys and labyrinths towards highways. J Community Genet. 2021 Apr;12(2):231-239. doi: 10.1007/s12687-021-00520-9. Epub 2021 Mar 18. PMID: 33738760; PMCID: PMC8141079. 8.Reinhard C, Bachoud-Lévi AC, Bäumer T, Bertini E, Brunelle A, Buizer AI, Federico A, Gasser T, Groeschel S, Hermanns S, Klockgether T, Krägeloh-Mann I, Landwehrmeyer GB, Leber I, Macaya A, Mariotti C, Meissner WG, Molnar MJ, Nonnekes J, Ortigoza Escobar JD, Pérez Dueñas B, Renna Linton L, Schöls L, Schuele R, Tijssen MAJ, Vandenberghe R, Volkmer A, Wolf NI, Graessner H. The European Reference Network for Rare Neurological Diseases. Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. PMID: 33519696; PMCID: PMC7840612.
Dr Ada Hamosh
Ada Hamosh MD, MPH, the Dr. Frank V. Sutland Professor of Pediatric Genetics, is the Clinical Director of the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine and the Scientific Director of Online Mendelian Genetics in Man (OMIM®) since 2002. Dr. Hamosh received her BA in Biology from Wesleyan University, MD from Georgetown University, and MPH from Johns Hopkins School of Hygiene and Public Health. She completed a pediatrics residency and clinical and clinical biochemical genetics fellowships at Johns Hopkins Hospital. Dr. Hamosh has authored over 140 papers and serves on several international committees representing genome-phenome relationships as well as phenotype ontologies, including,the ClinGen Project, the Global Alliance for Genomic Health (GA4GH), and the Human Genome Organization (HUGO). She is serving a two-year term as President of HUGO since Spring 2023. She and colleagues developed PhenoDB (http://phenodb.org), a web-based tool for the collection, storage, and analysis of standardized phenotype and genotype data that is freely available to all for clinical and research use, and GeneMatcher (http://genematcher.org), a website to enable matches of clinicians and researchers with an interest in the same gene. GeneMatcher includes over 16,800 submitters from 114 countries and >96,000 cases. Matches through GeneMatcher have resulted in >930 publications describing >700 novel disease genes. GeneMatcher is a founding member of the Matchmaker Exchange (MME). Dr. Hamosh serves on the steering committee of the MME and represents it on the steering committee of the Global Alliance for Genomics and Health (GA4GH).
Publications: 1.Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, Hamosh A, Baynam G, Groza T, McMurry J, Dawkins H, Rath A, Thaxton C, Bocci G, Joachimiak MP, Köhler S, Robinson PN, Mungall C, Oprea TI. How many rare diseases are there? Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y. PMID: 32020066; PMCID: PMC7771654. 2.Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3. PMID: 33658631; PMCID: PMC9472083. 3.Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat. 2015 Oct;36(10):928-30. doi: 10.1002/humu.22844. Epub 2015 Aug 13. PMID: 26220891; PMCID: PMC4833888. 4.Wang CM, Whiting AH, Rath A, Anido R, Ardigò D, Baynam G, Dawkins H, Hamosh A, Le Cam Y, Malherbe H, Molster CM, Monaco L, Padilla CD, Pariser AR, Robinson PN, Rodwell C, Schaefer F, Weber S, Macchia F. Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases. Orphanet J Rare Dis. 2024 Sep 11;19(1):334. doi: 10.1186/s13023-024-03322-7. PMID: 39261914; PMCID: PMC11389069. 5.Boycott KM, Azzariti DR, Hamosh A, Rehm HL. Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking. Hum Mutat. 2022 Jun;43(6):659-667. doi: 10.1002/humu.24373. Epub 2022 May 10. PMID: 35537081; PMCID: PMC9133175. 6.Wohler E, Martin R, Griffith S, Rodrigues EDS, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Hamosh A, Sobreira N. PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet J Rare Dis. 2021 Aug 18;16(1):365. doi: 10.1186/s13023-021-01916-z. PMID: 34407837; PMCID: PMC8371856. 7.Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med. 2007 May 31;356(22):2282-92. doi: 10.1056/NEJMoa066596. PMID: 17538087.
Prof Susan Horton
Susan Horton is Professor Emerita of global health economics from the University of Waterloo, Canada. She has a BA from Cambridge University, and an AM and PhD from Harvard University, all in economics. She is a Fellow of the Royal Society of Canada and a Fellow of the Canadian Academy of Health Sciences. Sue is well-known for her work on the economics of nutrition and her contribution to the global investment case for nutrition, as well as on the economics of diagnostics and of cancer in low- and middle-income countries. She has worked in more than twenty low- and middle-income countries including Kenya, Tanzania, Ghana, Bolivia, Jamaica, Philippines and Bangladesh, and consulted for over a dozen UN organizations, international development banks and international research organizations. She is a member of the STAG-MeDEV (Strategic and Technical Advisory Group – Medical Devices) of the World Health Organization. According to Google Scholar, as of January 2025, her work had been cited more than 33,000 times.
Publications: 1.Fleming KA, Horton S, Wilson ML, et al. The Lancet Commission on Diagnostics: Transforming access to diagnostics. Lancet, 398(10315): 1997-2050, 2021
Dr Kirsten Johnson
Dr. Kirsten Johnson is the President and one of the founders of Fragile X International. She is the Chair of the Council of Rare Diseases International and sits on the board of EURORDIS – Rare Diseases Europe. Kirsten is a FMR1 premutation carrier and has two adult daughters who live with Fragile X Syndrome. Her husband lives with a rare cancer, hairy cell leukemia. Kirsten works as a professional musician. Kirsten was one of the co-authors of the 2022 Cells article which led to the renaming of the FMR1 gene and protein, removing offensive and outdated terminology. She has also co-authored a 2020 article in Frontiers, on Fragile X Premutation Associated Conditions ‘and was lead author on a 2024 article in JARID on a holistic approach to Fragile X Syndrome. Her most recent publication is ‘The Joys of Fragile X: Understanding the strengths of fragile X and delivering a diagnosis in a helpful, holistic way’ (Neurodiversity, 2024).
Publications: 1.Herring, Jonathan, Kirsten Johnson, and Katherine Ellis. “The Joys of Fragile X: Understanding the Strengths of Fragile X and Delivering a Diagnosis in a Helpful, Holistic Way.” Journal of Rare Diseases, vol. 1, no. 1, 2024, doi:10.1177/27546330241287685. 2. Johnson, Kirsten, Andrew C. Stanfield, Gaia Scerif, Andrew McKechanie, Angus Clarke, Jonathan Herring, Kayla Smith, and Hayley Crawford. “A Holistic Approach to Fragile X Syndrome: Integrated Guidance for Person-Centred Care.” Journal of Applied Research in Intellectual Disabilities, first published 21 February 2024, doi:10.1111/jar.13214. 3.Herring, Jonathan, Kirsten Johnson, and Jörg Richstein. “The Use of ‘Retardation’ in FRAXA, FMRP, FMR1, and Other Designations.” Cells, vol. 11, no. 6, 2022, article 1044, doi:10.3390/cells11061044. 4.Johnson, Kirsten, Jonathan Herring, and Jörg Richstein. “Fragile X Premutation Associated Conditions (FXPAC).” Frontiers in Pediatrics, vol. 8, 2020, doi:10.3389/fped.2020.00266.
Dr Anneliene Jonker
Anneliene Jonker, PhD, is an Assistant Professor at the HTSR department of the TechMed Centre, at the University of Twente, in Enschede, The Netherlands. In this position, she aims to contribute to the acceleration of therapy development for rare diseases, and works at the interface of policy sciences, regulatory sciences and data sciences. Next to this, she is the Director of Duchenne Parent Project, a patient organization aimed to improve the lives of all people living with Duchenne Muscular Dystrophy. In this role, she connects to research and care for Duchenne worldwide. Next to this, she is the Vice Chair of the Therapies Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC), where she leads and participates in different Task Forces and Working Groups, such as the MedTech for Rare Diseases Working Group and the Drug Repurposing Guidebook. She is also an Assistant Editor for Orphanet Journal of Rare Diseases.Anneliene has previously worked at the IRDiRC Scientific Secretariat, as Project and Communication Manager, and in this role has been involved with many of the different tasks of the consortium. Anneliene Jonker has had a long interest in rare diseases, was trained as a biomedical scientist, obtaining her PhD in genetics and metabolism of Ewing’ sarcoma, a rare childhood cancer, at Institut Curie, Paris, France. She obtained her master’s degree in biomedical sciences from Leiden University and a master’s degree in the history of medicine, from the Free University of Amsterdam, Amsterdam, The Netherlands.
Publications: 1.Hechtelt Jonker, Anneliene, et al. “The State-of-the-Art of N-of-1 Therapies and the IRDiRC N-of- Development Roadmap.” Nature Reviews Drug Discovery, vol. 24, no. 1, Nov. 2024 .doi:10.1038/nrd.2017.246
Prof Kimihiko Oishi
Dr. Kimihiko Oishi, MD, is Chair and Professor of the Department of Pediatrics at the Jikei University School of Medicine in Tokyo, Japan, and Vice Chair of the Japanese Society for Inherited Metabolic Diseases. He is board-certified in Pediatrics and Medical Genetics in the US and Japan. Dr. Oishi completed his Pediatrics, Medical Genetics, and Molecular Developmental Biology training at Icahn School of Medicine at Mount Sinai in New York, where he served as an attending physician and directed clinical training programs. Dr. Oishi’s research focuses on understanding inborn errors of metabolism (IEM), particularly citrin deficiency, urea cycle disorders, organic acidemias, and lysosomal disorders. Actively engaged in developing innovative therapies, he conducts basic and clinical research to enhance the diagnosis and management of these disorders. He is also involved in comprehensive genome sequencing to uncover genetic causes of rare diseases. An active council member of the Japan Pediatric Society, Dr. Oishi focuses on fostering global collaboration in pediatric care and research through his leadership in international affairs. At Jikei, he leads a multidisciplinary team addressing challenges in rare disease diagnosis and management. He is committed to improving equitable access to diagnosis and treatment for people with rare diseases worldwide.
Publications: 1.Ow JR, Imagawa E, Chen F, Cher WY, Tung Chan SU, Gurrampati RR, Ramadass V, Loke MF, Tabaglio T, Nishida H, Tsunogai T, Yazaki M, Ch’ng GS, Lakshmanan M, Lee SS, Ying JY, Guccione E, Oishi K, Wee KB. An integrated diagnostics to splice-switching oligonucleotide therapeutic platform for Urea Cycle Disorder. J. Hepatol. 2024 in press. 2.Sako S, Oishi K, Ida H, Imagawa E. Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population. Hum Genome Var. 11(1):24. doi: 10.1038/s41439-024-00282-z.(2024) 3.Imagawa E, Moreta L, Misra VK, Newman C, Konuma T, Oishi K. Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10. J Hum Genet. 2023 Jun 2.doi: 10.1038/s10038-023-01162-0.PMID: 37268768. 4.Siegel C, Arnon R, Florman S, Bucuvalas J, Oishi K. Nutritional management and biochemical outcomes during the immediate phase after liver transplant for methylmalonic acidemia. Nutrients 12 (10), E2976; doi.org/10.3390/nu12102976 .(2020). 5.Imagawa E, Diaz GA, Oishi K. A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I. Genet. Metab. Rep. 29;24:100619.doi: 10.1016/j.ymgmr.2020.100619.(2020) 6.Rahawi S, Naik H, Blake K, Owusu-Obeng A, Wasserman RM, Seki Y, Vicky L. Funanage VL, Oishi K, Scott SA. Knowledge and attitudes on pharmacogenetics among pediatricians. J. Hum. Genet. 65(5):437-444. doi: 10.1038/s10038-020-0723-0.(2020). 7.van Rijt, WJ, Jager, EA, Allersma DP, AÇA Zeybek, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi, M, Geraghty, MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JL, Derks TGJ. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genet. Med. 22(5):908-916.doi: 10.1038/s41436-019-0739-z.(2020.) 8.Oishi K, Arnon R, Wasserstein MP, Diaz GA. Liver transplantation for pediatric inherited metabolic disorders: considerations for indications, complications, perioperative management. Pediatric Transplantation. 20(6):756-769. doi: 10.1111/petr.12741.PMID: 27329540.(2016). 9.Pagani MR, Oishi K, Gelb BD, Yi Z. The phosphatase SHP-2 regulates the spacing effects for long-term memory induction. Cell 139 (1): 186-198.doi: 10.1016/j.cell.2009.08.033. (2009). 10.Oishi K, Zhang H, Gault WJ, Wang CJ, Tan CC, Kim IK, Ying H, Rahman T, Pica N, Tartaglia M, Mlodzik M, Gelb BD. Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Hum. Mol. Genet. 18 (1): 193-201.doi: 10.1093/hmg/ddn336.(2009) 11.Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutation in a novel gene encoding a thiamine transporter causes the thiamine-responsive megaloblastic anemia syndrome. Nature Genet. 22: 309-312.doi: 10.1038/10385.(1999)
Prof Bartha Maria Knoppers
Prof. Bartha Maria Knoppers, PhD., O.C. Q.C. is Distinguished James McGill Professor Emerita and was the Canada Research Chair in Law and Medicine (2001-2024). Holder of 5 Honorary Degrees, she is the Founding Director of the Centre of Genomics and Policy of the Faculty of Medicine and Health Sciences at McGill University. She is internationally recognized for her outstanding contributions on the legal and ethical aspects of genetics, genomics and emerging biotechnologies as well as the rights of children. She is a member of the Board of Directors of the Global Alliance for Genomics and Health (GA4GH) and was the Co-Chair of the Ethics and Governance Working Group for the Human Cell Atlas (HCA) until 2024.
Publications: 1.Kleiderman E, Boardman F, Newson A, Laberge AM, Knoppers BM, Ravitsky, V. Unpacking the notion of “serious” genetic conditions: Towards implementation in reproductive decision making?. Eur J Hum Genet. Aug. 2024. https://doi.org/10.1038/s41431-024-01681-0. 2.Rothstein M.A., Patrinos, D., Brothers, K.B., Clayton, E.W., Joly, Y., Ma’n, H.Z., Andanda, P., Arawi, T., Castañeda, M., Chalmers, D. Chen, H., Knoppers, B.M., et al. Concordance of International Regulation of Pediatric Health Research. The Journal of Pediatrics, May 2023, 260.doi10.1016/j.jpeds.2023.113524 3.Knoppers BM, Bernier A., Bowers S., Kirby K., Open Data in the Era of the GDPR: Lessons from the Human Cell Atlas, Annual Review of Genomics and Human Genetics. Aug 2023; 24: 2.1-2.23.doi: 10.1146/annurev-genom-101322-113255. 4.Patrinos D., McDougall R., Beauvais MJS., Knoppers BM., Whither Health Research: The Missed Opportunities of the Child’s Right to Health, International Journal of Children’s Rights, Dec 2023, Vol. 3, p. 865-889.doi:10.1163/15718182-31040005. 5.Behalf of the Care4Rare Canada Consortium, (including Knoppers BM). Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada. Genetics in Medicine. 2022; 24(1): 100-108.doi: 10.1016/j.gim.2021.08.014
Prof Helen Malherbe
Prof. Helen Malherbe joined the rare disease community in 2004 when she lost her first child to Trisomy 18. She completed a PhD at University of KwaZulu Natal in 2017, followed by 4 years of post-doctoral research and a subsequent year at University of Pretoria. In January 2023 she was appointed as Extraordinary Associate Professor at the Centre for Human Metabolomics, North-West University (NWU). Helen led Genetic Alliance South Africa NPO from 2014-2019, which integrated with a like-minded NPO, Rare Diseases South Africa (RDSA), in April 2020, where she led research until February 2025. In March 2025, Helen left RDSA to continue her advocacy research full-time at NWU where she continues to address key aspects of community genetic services to ensure all those impacted by congenital disorders and rare diseases locally and globally can access effective services and achieve optimum quality of life. This includes reviewing terminology to ensure accurate representation and data comparison of the burden of disease, quantifying the burden of these collective conditions through modelling in the absence of empiric data (Modell Global Database); addressing capacity shortages of key healthcare professionals, cost-effectiveness of newborn screening in South Africa and sharing patient perspectives and conceptualizing patient-led research. She is involved in numerous international/national fora, supervises post-graduate students, presents regularly at key conferences and has published extensively in the peer-reviewed literature.
Publications: 1.Wang CM, Whiting AH, Rath A et al. (2024) Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases. Orphanet J Rare Dis 19(1), 334. doi: 10.1186/s13023-024-03322-7. 2.Therrell BL, Padilla CD, Borrajo GJC et al. (2024) Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023). Int J Neonatal Screen 10(38), 184. doi: https://doi.org/10.3390/ijns10020038. 3.Malherbe HL, Bonham JR, Carrihill M et al. (2024) Newborn screening in South Africa: the past, present and plans for the future. Rare Dis Orphan Drugs J 3(7), 11. doi: http://dx.doi.org/10.20517/rdodj.2023.49. 4.Malherbe H, Jain R, Antoniadou V et al. (2024) Patient organizations: advocating for timely newborn screening & improved quality of life. Rare Dis Orphan Drugs J 3(23), 1-8. doi: https://doi.org//10.20517/rdodj.2024.11. 5.Gomes M & Malherbe HL (2024) The impact of Covid-19 on patients impacted by rare diseases and congenital disorders in South Africa – a scoping review S Afri Med J 114(9), 49-57. doi: https://doi.org/10.7196/SAMJ.2024.v114i9.1795. 6.Gomes MCM, Gomes B, Bailly C et al. (2024) A capacity audit of medical geneticists and genetic counsellors in South Africa, 2024 – A national crisis. Genes 15((9)), 1173. doi: https://doi.org/10.3390/genes15091173. 7.Baynam G, Julkowska D, Bowdin S et al. (2024) Advancing Rare Genetic Diseases Diagnosis for Indigenous Peoples. Nat Genet 56, 189-193. doi: https://doi.org/10.1038/s41588-023-01642-1. 8.Dercksen M, Conradie EH, Hendriksz CJ et al. (2023) The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders world-wide. . S Afr Med J 113(12), 1513-1514. doi: https://doi.org/10.7196/SAMJ.2023.v113i12.1507.Kancherla V, Randall P, Christianson AL et al. (2024) 9.Status of prevention of neural tube defects post-folic acid fortification of cereal grains in South Africa. Public Health Nutr 27(1), e258. doi: 10.1017/S1368980024002271.
Dr Lucy McKay
Dr. Lucy McKay is a UK trained doctor and the CEO of Medics for RareDisease. Lucy comes from a rare disease family and she grew up alongside a patient group that started life in her family home. After studying Human Genetics at The University of Nottingham she went on to study medicine at Barts and The London School of Medicine and Dentistry in 2010. During her medical studies she identified how medical education was contributing to the diagnostic odyssey and negative patient experiences. Lucy’s role of CEO combines her unique personal experiences with her medical training in order to improve the lives of those living with rare diseases through medical education. Lucy’s other roles include member of the UK Government’s Department of Health and Social Care’s Rare Diseases Framework Forum and Steering Committee Member for Medscape’s Rare Diseases Learning Centre.
Publications: 1.ARDEnt Group. The Impact of COVID-19 on People Living with Rare Diseases: Insights and Recommendations. Cambridge Rare Disease Network, 2021. 2.Rohani-Montez, S. Christy, Jennifer Bomberger, Cong Zhang, Jacob Cohen, Lucy McKay, and William R.H. Evans. “Educational Needs in Diagnosing Rare Diseases: A Multinational, Multispecialty Clinician Survey.” Gene Therapy and Molecular Oncology, vol. 28, 2023, article 100808.doi.org/10.1016/j.gimo.2023.100808. 3.Dunne, Thomas Frederick, Daniel Jeffries, and Lucy McKay. “Rare Disease 101: An Online Resource Teaching on Over 7000 Rare Diseases in One Short Course.” Orphanet Journal of Rare Diseases, vol. 19, no. 1, 2024, article 32. doi:10.1186/s13023-024-03286-8 4.Tumiene, Birute, et al. “Rare Disease Education in Europe and Beyond: Time to Act.” Orphanet Journal of Rare Diseases, vol. 17, no. 1, 2022, article 441. doi:10.1186/s13023-022-02527-y. 5,Al-Attar, Mariam, Sondra Butterworth, and Lucy McKay. “A Quantitative and Qualitative Analysis of Patient Group Narratives Suggests Common Biopsychosocial Red Flags of Undiagnosed Rare Disease.” Orphanet Journal of Rare Diseases, vol. 19, no. 1, 2024, article 172. doi:10.1186/s13023-024-03143-8.
Dr Carmencita D. Padilla
Dr. Carmencita D. Padilla is Professor Emeritus of College of Medicine, University of the Philippines (UP) Manila. Dr Padilla is a pioneer in genetics in the Philippines and the Asia Pacific Region. She established the Institute of Human Genetics and the Newborn Screening Reference Center of the National Institutes of Health -Philippines. Another landmark contribution is the establishment of the Philippine Genome Center. She initiated newborn screening (NBS) for the country and has developed a sustainable NBS system that serves as a model for developing programs. She is responsible for the lobby efforts for the passage of the Newborn Screening Act of 2004 (Republic Act No 9288) and the Rare Diseases Act of 2016 (Republic Act No 10747). She is an international consultant in genetics, newborn screening and rare diseases. She is an international consultant in genetics, newborn screening and rare diseases. Dr Padilla was elected Academician of the National Academy of Science and Technology in 2008. The President of the Philippines conferred on her the title of National Scientist in 2023 followed with issuance of Presidential Proclamation No. 642 on August 2, 2024.
Publications:1.Padilla, C.D.; Abadingo, M.E.; Maceda, E.B.G.; Alcausin, M.M.L.B. Integrating Genetic Services in the Philippine Public Health Delivery System: The Value of Networks. Genes 2024, 15, 780. https://doi.org/10.3390/ genes15060780 2.Therrell, B.L.; Padilla, C.D.;Borrajo, G.J.C.; Khneisser, I.; Schielen,P.C.J.I.; Knight-Madden, J.; Malherbe,H.L.; Kase, M. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023). Int. J. Neonatal Screen.2024, 10, 38. https://doi.org/10.3390/ijns10020038 3.Padilla CD, Abadingo ME, Munda KV, Therrell BL. Overcoming challenges in sustaining newborn screening in low-middle-income countries: the Philippine newborn screening system. Rare Disease and Orphan Drugs Journal. 2023; 2(4): 27. http://dx.doi.org/10.20517/rdodj.2023.38 4.Padilla CD, Therrell BL, Jr., Alcausin MMLB, Chiong MAD, Abacan MAR, Reyes MEL, Jomento CM, Dizon-Escoreal, MTT, Canlas MAE, Abadingo ME, et al. Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry. Int. J. Neonatal Screen. 2022 Jan, 8, 8. https://doi.org/10.3390/ijns8010008
Dr Ana Rath
Ana Rath is a medical doctor with a background in general surgery and a Master degree in Philosophy. She oriented her career to medical information and terminologies in 1997 and joined Orphanet (www.orpha.net) in 2005, where she was Manager of the Orphanet Encyclopaedia, then Scientific Director, and Director of Orphanet and Coordinator of the Orphanet network since 2014. Ana was the coordinator of RD-ACTION, the EU Joint Action for rare diseases (2015-2018) and of the IRDiRC’s Scientific secretariat until 2017. She chairs the Orphanet Rare Disease Ontology (ORDO), and was member of the WHO’s ICD11 Revision Steering Committee. She coordinates projects on implementation of RD codification in EU member states (RD-CODE, OD4RD) and co-chairs the ERDERA Data Service Hub on data and resources ecosystem for RD research in Europe.
Publications: 1.Nguengang Wakap, S., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., ... & Rath, A. (2020). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European journal of human genetics, 28(2), 165-173. 2.Rath, A., Olry, A., Dhombres, F., Brandt, M. M., Urbero, B., & Ayme, S. (2012). Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Human mutation, 33(5), 803-808. 3.Pavan, S., Rommel, K., Mateo Marquina, M. E., Höhn, S., Lanneau, V., & Rath, A. (2017). Clinical practice guidelines for rare diseases: the orphanet database. PloS one, 12(1), e0170365. 4.Rath, A., Salamon, V., Peixoto, S., Hivert, V., Laville, M., Segrestin, B., ... & Gluud, C. (2017). A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome?. Trials, 18, 1-11. 5.Aymé, S., Bellet, B., & Rath, A. (2015). Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding. Orphanet Journal of Rare Diseases, 10, 1-14. 6.Vasant, D., Chanas, L., Malone, J., Hanauer, M., Olry, A., Jupp, S., ... & Rath, A. (2014, July). Ordo: an ontology connecting rare disease, epidemiology and genetic data. In Proceedings of ISMB (Vol. 30). researchgate. net.
Dr Prof Ratna Dua Puri
Ratna Dua Puri MD, Paediatrics and Doctorate in Medical Genetics is Professor in Genetics & Chairperson at the Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi. Working in the field of genetics, Dr Puri received “Young Investigators Award” at the International Congress of Inborn Errors of Metabolism held in Tokyo, Japan from 12-16th September 2006. She has received the Dr IC Verma Outstanding Researcher Award 2019 and the Dharam Vira Award of Excellence for Senior Officer in recognition of meritorious service rendered to the Hospital during the year 2010. FICCI Healthcare Award 2017 to her institute, Institute of Medical Genetics & Genomics for developing a strategy to reduce the burden and prevent genetic disease through community participation/Counseling/Screening & Prenatal diagnosis. Member of the Undiagnosed Network International, the panel of experts of the WHO Collective Global Network for Rare Diseases and Past member of the Diagnostics Scientific Committee, International Rare Diseases Research Consortium, member of the National consortium for Research and Development for Therapeutics for Rare Diseases in India as well as members of other technical and research committees in India. She initiated the Indian Undiagnosed Diseases Program in India. Her area of research interest are rare and undiagnosed disorders, the public health applications of familial hypercholesterolemia, neuromuscular disorders and reproductive genetics. She leads one of the oldest and pioneer institutes of genetics and genomics in India with a vast experience in diagnosis and management of patients with genetic disorders.
Publications: 1.Garg N, Lakshmi P, Singh SM, Kulshreshta S, Ranganath P, Moirangthem A, Dalal A, Gahlot A, Puri RD. Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey. Clin Genet. 2025 Jan 13. doi: 10.1111/cge.14694. Epub ahead of print. PMID: 39806532. 2.Lynch SA. Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe. Eur J Med Genet. 2024 Dec 19;73:104989. doi: 10.1016/j.ejmg.2024.104989. Epub ahead of print. PMID: 39709002. 3.Pal S, Kulshrestha S, Garg N, Gupta D, Gupta ND, Puri RD. Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation. Mol Syndromol. 2024 Dec;15(6):503-516. doi: 10.1159/000539099. Epub 2024 Jun 10. PMID: 39634241. 4.Delgado-Vega AM, Cederroth H, Taylan F, Puri RD, et al. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. PMID: 39433890. 5.Chen FH, Hartman AL, Letinturier MCV, Antoniadou V, Baynam G, Bloom L, Crimi M, Della Rocca MG, Didato G, Houge SD, Jonker A, Kawome M, Mueller F, O’Brien J, Puri RD, Ryan N, Thong MK, Tumienė B, Parisi MA. Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force. Eur J Med Genet. 2024 Dec;72:104977. doi: 10.1016/j.ejmg.2024.104977. Epub 2024 Oct 5. PMID: 39374775. 6.Adams DR, van Karnebeek CDM, Agulló SB, Faùndes V, Jamuar SS, Lynch SA, Pintos-Morell G, Puri RD, Shai R, Steward CA, Tumiene B, Verloes A; members of the IRDiRC Diagnostic Scientific Committee. Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee. Eur J Med Genet. 2024 Aug;70:104951. doi: 10.1016/j.ejmg.2024.104951. Epub 2024 Jun 6. PMID: 38848991. 7.Bhatia S, Pal S, Kulshrestha S, Gupta D, Soni A, Saxena R, Bijarnia-Mahay S, Verma IC, Puri RD. Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder. Eur J Hum Genet. 2024 Sep;32(9):1106-1115. doi: 10.1038/s41431-024-01569-z. Epub 2024 Apr 11. PMID: 38605122. 8.Kohli S, Saxena R, Puri RD, Bijarnia Mahay S, Pal S, Dubey S, Arora V, Verma I. The molecular landscape of oculocutaneous albinism in India and its therapeutic implications. Eur J Hum Genet. 2024 Oct;32(10):1267-1277. doi: 10.1038/s41431-023-01496-5. Epub 2023 Nov 30. PMID: 38030918. 9.Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD. Next-Generation Sequencing in Unexplained Intellectual Disability. Indian J Pediatr. 2024 Jul;91(7):682-695.doi: 10.1007/s12098-023-04820-5. 10.Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD. Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias. Eur J Med Genet. 2022 Oct;65(10):104595.doi: 10.1016/j.ejmg.2022.104595. 11.Puri, R. D., Dalal, A., & Moirangthem, A. (2022). Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need. Indian Pediatr. 2022 Mar 15;59(3):198-200
Prof Giuseppe Remuzzi
Director of Mario Negri Institute for Pharmacological Research and “Chiara Fama” Prof. of Nephrology, University of Milan. He has been member of the Consiglio Superiore di Sanità since February 2019. He was Chief of Nephrology at Bergamo Hospital and Director of the Department of Medicine. His main research interests include the causes of glomerulonephritis and the mechanisms of progression of kidney diseases. He has also conducted many studies in the field of transplant rejection. He was President of the International Society of Nephrology (ISN) for the biennium 2013-2015. In recognition of his achievements, he received many national and international awards, among them the John P. Peters Award (American Society of Nephrology 2007, San Francisco) the ISN AMGEN Award (World Congress of Nephrology: WCN 2011, Vancouver), the International Award “Luis Hernando” (Iñigo Alvarez de Toledo Renal Foundation (FRIAT): Madrid, Spain) and the “Lennox K. Black International Prize for Excellence in Medicine” (Thomas Jefferson University, Philadelphia). From 2024 he is Corresponding Member of the Academy of the Lincei – Physical, Mathematical and Natural Sciences. Prof. Remuzzi was honoured by the Italian President of the Republic with the title of Cavaliere di Gran Croce in 2022. He is the author of hundreds of publications in international medical journals and has written several books.
Ms Anna Somuyiwa
As the Executive Director and Head of the Centre for Innovation in Regulatory Science (CIRS), Ms. Anna Somuyiwa is driven by a passion for bridging the gaps in healthcare policy and fostering collaboration across industry, regulatory agencies, HTAs, and other stakeholders. With many years of experience in regulatory science and healthcare innovation, Ms. Somuyiwa has cultivated a career at the intersection of strategy, innovation, and policy impact. At CIRS, Ms. Somuyiwa's mission is to facilitate actionable dialogue and deliver insights that enable global stakeholders to navigate complex healthcare landscapes. Through innovative research and pioneering initiatives, she is committed to ensuring that regulatory systems worldwide are primed to address the challenges of today and the innovations of tomorrow. Before leading CIRS, Ms. Somuyiwa honed expertise in regulatory strategy, project leadership, and stakeholder engagement in roles spanning consultancy and industry. Whether shaping policy frameworks, advising on health technology assessments, or mentoring the next generation of regulatory professionals, Ms. Somuyiwa brings a collaborative and forward-thinking approach to every endeavour. Passionate about driving systemic change, Ms. Somuyiwa champions initiatives that improve access to innovative therapies and align regulatory practices with the evolving needs of patients and the healthcare ecosystem. Publications 1. Review and Reimbursement Frameworks for Rare Disease Products. Centre for Innovation in Regulatory Science, 2023 2. Review of HTA Outcomes and Timelines in Australia, Canada, Europe, and the UK (2019-2023). Centre for Innovation in Regulatory Science, 2023
Publications :1. Review and Reimbursement Frameworks for Rare Disease Products. Centre for Innovation in Regulatory Science, 2023. 2. Review of HTA Outcomes and Timelines in Australia, Canada, Europe, and the UK (2019-2023). Centre for Innovation in Regulatory Science, 2023
Ms Sharon F. Terry
Sharon F. Terry is President and CEO of Genetic Alliance, driving initiatives that empower individuals and communities to take control of their health while advancing biomedical research. She co-founded PXE International in 1994 after her children’s diagnosis with pseudoxanthoma elasticum (PXE), a genetic condition. Her work led to the co-discovery of the ABCC6 gene, the development of a diagnostic test, and clinical trials for PXE. She created the first lay led registry, biobank, IRB, and research consortium in the history of advocacy. An author of over 200 peer-reviewed publications, including 50 on PXE, Sharon’s journey is featured in her TED Talk and TED Radio Hour. Sharon has held influential roles in organizations like the chair of the National Academies of Medicine’s Board on Health Sciences Policy and the Executive Committee of the Accelerating Medicines Partnership. She co-founded impactful initiatives such as the EspeRare Foundation, GA4GH, and the International Rare Disease Research Consortium. She also led efforts that resulted in the passage of the Genetic Information Nondiscrimination Act. Recognized with honors including an honorary doctorate from Iona University, honorary professor at Hebei University in China, Research!America’s Distinguished Organization Advocacy Award, Clinical Research Forum’s Leadership in Public Advocacy Award, “30 Heroes for the Thirtieth Anniversary of the Orphan Drug Act” (FDA), Luminary Award: Precision Medicine World Conference, and the American Society of Human Genetics Advocacy Award. Sharon was named an Ashoka Fellow in 2009. She is a practitioner and facilitator of Gestalt Awareness Practice. She credits her daughter and son, their wives, and her granddaughter as her inspiration and grounding force in this work.
Publications: 1.Terry SF. Life as a numerator: Putting the person in personal genomics. Appl Transl Genom. 2016;8:40-41. Published 2016 Feb 1. doi:10.1016/j.atg.2016.01.007. 2.Terry SF. The study is open: Participants are now recruiting investigators. Sci Transl Med. 2017;9(371):eaaf1001. doi:10.1126/scitranslmed.aaf1001 3.Baxter K, Horn E, Gal-Edd N, et al. An end to the myth: there is no drug development pipeline. Sci Transl Med. 2013;5(171):171cm1. doi:10.1126/scitranslmed.3003505. 4.Terry SF. Accelerate medical breakthroughs by ending disease earmarks. Nat Rev Genet. 2010;11(5):310. doi:10.1038/nrg2782. 5.Coetzee T, Ball MP, Boutin M, et al. Data Sharing Goals for Nonprofit Funders of Clinical Trials [published correction appears in J Particip Med. 2021 Jun 30;13(2):e31371. doi: 10.2196/31371]. J Particip Med. 2021;13(1):e23011. Published 2021 Mar 29. doi:10.2196/23011. 6.Terry SF. The study is open: Participants are now recruiting investigators. Sci Transl Med. 2017;9(371):eaaf1001. doi:10.1126/scitranslmed.aaf1001.7.Terry SF, Horn EJ, Scott J, Terry PF. Genetic Alliance Registry and BioBank: a novel disease advocacy-driven research solution. Per Med. 2011;8(2):207-213. doi:10.2217/pme.11.1. 8.Horn EJ, Bialick JF, Terry SF. Landscape analysis of registries and biobanks: a tool for disease advocacy organizations to enhance translational research systems. Biopreserv Biobank. 2010;8(2):115-117. doi:10.1089/bio.2010.0007. 9.Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. Advocacy groups as research organizations: the PXE International example. Nat Rev Genet. 2007;8(2):157-164. doi:10.1038/nrg1991
Dr Durhane Wong-Rieger
Durhane Wong-Rieger, PhD is President & CEO of the Canadian Organization for Rare Disorders, Immediate Past Chair of Rare Disease International, President of Asia Pacific Alliance of Rare Disease Organizations, Treasurer of UN NGO for Rare Diseases, Chair of Patient Advocates Constituency Committee of the International Rare Disease Research Consortium, member of Lancet Commission on Rare Disease, and member of the Editorial Boards of The Patient Centred Outcomes Research and Rare Diseases and Orphan Drugs Journal, and Global Commission to End the Diagnostic Odyssey for Rare Diseases. In Canada, she is also President & CEO of the Institute for Optimizing Health Outcomes and Chair of the Consumer Advocare Network and Canadian Heart Patient Alliance. She is co-chair of Canada’s Rare Disease Drug Strategy Implementation Advisory Group, member of Canada’s Rare Disease Network Steering Committee and Canada’s Newborn Screening Advisory Group. Durhane has a PhD in psychology from McGill University and was professor at the University of Windsor, Canada. She is a certified Health Coach, lecturer, and author of three books and many articles.
Dr Ignacio Zarante
Dr. Ignacio Zarante is a medical geneticist, full professor at the Faculty of Medicine of Pontificia Universidad Javeriana in Bogotá, and head of the Medical Genetics Service at Hospital Universitario San Ignacio. He serves as President of the Colombian Association of Medical Geneticists and Genomic Medicine and has led multiple initiatives focused on the care, research, and education related to rare diseases and congenital disorders in Colombia and Latin America. With over 20 years of experience, Dr. Zarante has significantly contributed to the development of public policies aimed at improving early diagnosis and comprehensive management of patients with complex genetic conditions. He has been the principal investigator of major epidemiological studies and innovative projects, including OFELIA, an AI-based monitoring system for rare diseases (https://diagnosis-dra-ofelia.com/). Dr. Zarante actively participates in international collaborations, promoting an interdisciplinary and patient-centered approach that prioritizes family support and well-being. His dedication to education has led him to design innovative courses and pedagogical resources that inspire future generations of healthcare professionals. He is currently a member of The Lancet Commission on Rare Diseases, where he advocates for strengthening research and healthcare networks across the region.
Publications: 1.Rojas Martínez, J.A., Zarante Bahamón, A.M., Salazar, L.V. et al. Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia. Orphanet J Rare Dis 19, 417 (2024).doi.org/10.1186/s13023-024-03366-92. 2.Serrano-Giraldo, J; Becerra-Munoz, M.; Tijaro-Santos, J.; Zarante, I. Current situation of rare diseases in Bogotá: Notification to SIVIGILA from 2019 to 2022. Rev. salud pública [online]. 2023, vol. 25, n. 4, 107594. Epub July 01, 2023. ISSN 0124-0064.doi. org/10.15446/rsap. v25n4.107594. 3.Gargano MA, et. al. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. PMID: 37953324; PMCID: PMC10767975. 4.Giugliani R, Castillo Taucher S, Hafez S, Oliveira JB, Rico-Restrepo M, Rozenfeld P, Zarante I, Gonzaga-Jauregui C. Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America. Front Genet. 2022 Dec 8;13:1053559. doi: 10.3389/fgene.2022.1053559. PMID: 36568372; PMCID: PMC9773081. 5.Zarante I, Hurtado-Villa P, Walani SR, Kancherla V, López Camelo J, Giugliani R, Groisman B, Howson CP, Durán P. A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean. Rev Panam Salud Publica. 2019 Feb 14;43:e2. doi: 10.26633/RPSP.2019.2. PMID: 31093226; PMCID: PMC6419921.
Dr Shuyang Zhang
Dr. Shuyang Zhang is the president of Peking Union Medical College Hospital (PUMCH). She also serves as a vice president of Chinese Academy of Medical Sciences & Peking Union Medical College. Dr. Zhang is a chief physician, professor, and doctoral supervisor of internal medicine. She has actively engaged in basic and clinical research and new drug development of cardiovascular diseases and rare diseases (RDs) for three decades. She led the establishment of a RD multidisciplinary team, a joint outpatient clinic, and a RD specialty ward at PUMCH, offering patient-centric, coordinated medical services that streamline patient care across specialties. Expanding this model, she established the National Collaborative Network for RD Diagnosis and Treatment under the guidance and support of the National Health Commission, connecting 419 hospitals throughout the country to enhance healthcare capabilities through shared knowledge and continuing education. Her leadership in establishing the National Rare Diseases Registry System (NRDRS) has further advanced research, with over 100 hospitals registering more than 92,000 cases, contributing to 456 academic publications and 105 clinical trials for RD medications. Dr. Zhang concurrently serves as a Standing Committee Member of the Chinese Medical Association (CMA), the Chair of the Chinese Society of Rare Diseases of CMA, and the Chair of the National Expert Committee on Rare Diseases Clinical Care and Accessibility of the National Health Commission.
Publications: 1.Zhang S, Chen L, Zhang Z, Zhao Y. Orphan drug development in China: progress and challenges. Lancet. 2019 Sep 28;394(10204):1127-1128. doi: 10.1016/S0140-6736(19)32179-8. 2.He S, Tian Z, Guan H, Li J, Fang Q, Zhang S. Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy. Orphanet J Rare Dis. 2019 Nov 12;14(1):251. doi: 10.1186/s13023-019-1235-x. 3.Liu P, Gong M, Li J, Baynam G, Zhu W, Zhu Y, Chen L, Gu W, Zhang S. Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China. Front Pharmacol. 2021 Oct 15;12:719415. doi: 10.3389/fphar.2021.719415. 4.Guo J, Liu P, Chen L, Lv H, Li J, Yu W, Xu K, Zhu Y, Wu Z, Tian Z, Jin Y, Yang R, Gu W, Zhang S; Administrative Group of National Rare Diseases Registry System of China. National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses. Orphanet J Rare Dis. 2021 Dec 18;16(1):515. doi: 10.1186/s13023-021-02130-7. 5.Zhang J, Cui X, Chen S, Dai Y, Huang Y, Zhang S. Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study. Orphanet J Rare Dis. 2021 Jun 13;16(1):274. doi: 10.1186/s13023-021-01903-4. 6.Xie J, Jin Y, Shen M, Chen L, Zhang S. A Patient-Centric, Coordinated Care Model for Rare Diseases: The Multidisciplinary Consultation Program at Peking Union Medical College Hospital. NEJM Catalyst Innovations in Care Delivery. 2023 Dec 22. 4(s1). DOI: 10.1056/CAT.23.0297. 7.Chen R, Liu S, Han J, Zhou S, Liu Y, Chen X, Zhang S. Trends in rare disease drug development. Nat Rev Drug Discov. 2024 Mar;23(3):168-169. doi: 10.1038/d41573-023-00177-8.