Tanya Collin-Histed, Chief Executive Officer of the International Gaucher Alliance (IGA), discusses a global collaborative effort for Gaucher disease.
Gaucher disease is a rare inherited metabolic disorder that leads to the harmful accumulation of the lipid glucocerebroside in various cells and tissues in the body. Signs and symptoms vary widely among affected individuals and may include skeletal disorders, hepatosplenomegaly, liver malfunction, anemia, low platelet counts, bone problems, and neurological problems. There are different types of Gaucher disease classified according to specific features and severity, but Gaucher disease type 1 is the most common form. It is caused by genetic changes in the GBA gene.
The IGA’s Global Gaucher Connect Program is a collaboration with healthcare professionals and organizations. With the goal of addressing the challenges faced by rare disease patients and their families, the program meets the diverse needs of patient populations globally. Through volunteers, challenges such as limited resources and the importance of understanding language and culture are tackled and sustainable communities are established,
Right now, 62 countries, where member organizations do not exist yet, have been covered through the work of the IGA. Two great examples of the work being done are shown in Ethiopia and Sri Lanka, where patients face challenges such as limited access to diagnosis, low awareness among healthcare providers, and restricted access to treatment. Initiatives are currently underway such as an online education seminar (Ethiopia) and a natural rare disease registry (Sri Lanka) to improve outcomes for patients with Gaucher disease in those countries.
For more information on the IGA and their work, click here.
To learn more about Gaucher disease and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
