Background
Rare diseases (RDs) are estimated to affect between 200 to 400 million people worldwide, though the exact figure remains object of debate.
RDs present unique challenges across clinical, psychosocial, research, patient advocacy, industry, and policy sectors. These diseases are often genetic in nature, but also include rare cancers, infections, and environmental exposures. They are severe, progressive, and can lead to significant impairment.
Rare diseases are difficult to diagnose, with few symptomatic treatments and even fewer effective therapies for the underlying conditions.
Globally, there is a lack of awareness and recognition in society, healthcare, and policy, leading to:
These challenges have a profound impact on health and well-being, especially for women, who are more likely to be misdiagnosed and often serve as primary caregivers. The situation is even more severe in low- and middle-income countries, where resources and recognition of rare diseases are often lacking.
The Challenges of Rare Disease
- Discrimination and Stigma
- Long delays in accurate diagnosis
- Uninformed or inadequate care
- Limited access to essential healthcare services
Advancements and Challenges in Treatment
Thanks to scientific breakthroughs, such as next-generation sequencing and genetic therapies, genetic diagnosis is now possible for many RDs, and some can be treated precisely. However, cost remains a significant barrier. Despite investments in research and care, global inequities persist, even in high-income countries with advanced healthcare systems.
A Lancet Commission to galvanise global recognition and action for people living with rare diseases
The Rare Diseases International-Lancet Commission on Rare Diseases (RDI-LCRD) aims to catalyze global recognition and action for people living with rare diseases, driving systemic change to achieve Global Health 2035 goals and Universal Health Coverage.
The RDI-LCRD will work on solutions that address the unique needs of PLWRD, focusing on:
- Comprehensive Review: Analyzing the current state of RD knowledge, research, and care.
- Evidence-Informed Strategies: Creating actionable recommendations to improve RD diagnosis, care, and public health policies.
- Innovative Solutions: Proposing affordable system innovations, including research, health and social care, and funding strategies.
- Early Diagnosis: Shortening the diagnostic journey and sharing best practices in genomic testing.
- Leveraging Genomic Medicine: Utilizing advancements in genomic and precision medicine, with ethical considerations.
Our Objectives
The first in-person meeting of the Lancet Commission on Rare Diseases, hosted by RDI and held from from 5-6 November at the Fondation Brocher near Geneva, Switzerland.
