February 28, 2023
Every year on the last day of February, Rare Disease Day is celebrated worldwide in a collective effort to raise awareness and funding for the 300 million people living with a rare disease. First recognized in 2008 by EURORDIS, a nonprofit alliance for over 1000 patient organizations, Rare Disease Day includes events in more than 110 countries.
“Rare Disease Day is an important reminder of the common humanity that underlies these disorders,” says Ryan Taft, Illumina’s vice president of Scientific Research. “In our lifetimes it is almost certain that we, or someone we know, will be affected by these often-devastating diseases. At Illumina, we have a moral imperative to get these patients the diagnoses they need and deserve.”
Each year, Illumina selects four rare disease organizations to support and spotlight their work.
Association pour la Recherche Génétique des Anomalies du Développement, better known as ARGAD, is a nonprofit association established in 2010 in Bourgogne, France. The association supports clinical and biological research in the area of genetics of developmental disorders, and assists in education and raising awareness for health care professionals and the public, all with the mission of improving the care and support of rare disease patients in France. To mark Rare Disease Day 2023, ARGAD has been conducting workshops in which children with a rare disease collaborate with professional artists to tell the story of their diagnosis and their experience living with it. This ambitious project will culminate in the creation of a 200-page collectible book of the artwork and an exhibition and discussion panel at the Ground Effect gallery in Paris on February 28.
Founded in 1999 by two patient parents, the Taiwan Foundation for Rare Disorders (TFRD) enhances patients’ quality of life while also advocating for medical rights. Remarkably, TFRD’s efforts prompted the Rare Disease Prevention and Orphan Drug Act—making Taiwan one of the first governments to pass legislation related to rare disease. In addition to promoting research, fostering patient groups, and influencing policy, the organization also provides direct services to 18,000 families, helping with at-home care visits, psychological support, family education, rehab, and more. TFRD has an extraordinary commitment to improving access to diagnostic technologies and it subsidizes genetic testing and newborn screening for low-income families.
Life changed dramatically for Texan singer-songwriter Casey McPherson and his family when, after pursuing whole-exome sequencing to find an explanation for his daughter Rose’s symptoms, she was diagnosed with the rare genetic disease HNRNPH2. To the fans of his music, Casey might seem an unlikely scientist, yet his passion to save his daughter has meant pushing boundaries to model a different future for people living with rare disease and their families: He started the To Cure a Rose Foundation to save his daughter and scale a better model for rare drug development, and he cofounded Everlum Bio, a personalized medicine company and proof-of-concept drug discovery lab to serve family foundations.
Finally, the Tanzania Human Genetics Organization (THGO) is a nonprofit organization whose main goal is to coordinate human genetics research and activities in Tanzania to generate knowledge and recommendations for diagnosis, prevention, and treatment of genetic disease. THGO envisions a health community that is able to use genetic information and services to save lives and promote healthy outcomes in Tanzania. They work passionately to partner with and support the broader advocacy of disease-specific patient organizations throughout the country (including Ali Kimara Rare Disease Foundation and Lupus Warriors Tanzania) and have formed a coalition-partnership with the Southern Africa Youth Forum to advise and promote the adoption of a common policy on health care and social services for people living with rare diseases in the countries of the Southern Africa Development Community.
Illumina also remains committed to supporting the rare genetic disease population through initiatives that provide direct access to clinical whole-genome sequencing. For 10 years, the Illumina iHope program has facilitated pro bono genome testing for more than 1700 children with suspected rare genetic disease across 24 clinical sites in eight countries. Approximately 40% have received a diagnosis and up to 78% received a change in their care management.
Based on the success of this program, Illumina recently announced an expansion of iHope to China at the Illumina NGS Summit. In partnership with the Special Fund for Diagnosis and Treatment of Genetic Diseases—under the March of Dimes Birth Defects Foundation of China—and supported by the Illumina Foundation and Give2Asia, iHope China will provide genetic testing to more than 2000 patients with rare disease over a three-year period. The initiative will also provide training to more than 100 clinicians at 20 Chinese hospitals.
Illumina has committed to dramatically expanding access to genome testing outside China through a partnership with Genetic Alliance to develop iHope Genetic Health—a program supported by a $120 million in-kind donation of sequencers, reagents, and software to enable dozens of laboratories to provide genome testing in low- and middle-income communities around the world. This effort will support up to 50,000 patients a year in five years, and will work with local communities to support genetic education, local capacity building, and patient-authorized data use.