MERD India Foundation | Newsletter Summary
May Newsletter Summary
Throughout the month of May, we provided informative support to approximately 30 individuals regarding newborn screening and Inborn Errors of Metabolism (IEM). We also actively participated in several key educational webinars and tracked major global updates in the rare disease space.
Webinar Highlights
May 20, 2026
Topic: AL Amyloidosis: The Rare Disease Hiding in Plain Sight — From Diagnostic Odyssey to Stem Cell Transplant and Beyond.
Host: Organization for Rare Diseases India (ORDI).
Details: This session addressed the critical clinical realities of navigating an AL amyloidosis diagnosis. It featured valuable insights from Dr. Nikhil M. Kumar (Hematologist-Oncologist, Cochin) and Mr. Nadir Aman (Genetic Counselor, Hyderabad).
May 13, 2026
Topic: A - Z of Thalassemia (ORDI Rare Info Series 60).
Host: ORDI.
Details: Attended an excellent webinar providing comprehensive insights into thalassemia. The session featured key speaker Dr. Prosanto Kumar Chowdhury and was moderated by Dr. Dipanjana Datta.
May 6, 2026
Topic: Advances in Rare Disease Care & Medical Genetics.
Host: ORDI.
Details: Witnessed an insightful session featuring leading experts in medical genetics and pediatrics. The discussion was led by Dr. Gayatri Dhanger (Professor, SMS Medical College) and moderated by Dr. Aparna U Simha, emphasizing the evolving landscape of advanced care in our nation.
Key Takeaways from the May 6th Session:
Early Intervention: The critical window for diagnosing metabolic disorders is immediately after birth.
The Power of Specialized Nutrition: For many Inborn Errors of Metabolism (IEM), specialized medical diets are not just supplements—they are life-saving treatments.
Diagnostic Breakthroughs: Advances at most medical colleges now allow for more precise prenatal testing, giving high-risk families clearer answers during pregnancy.
Policy Update (Rajasthan): A major highlight for 2026 is the continued success of the Mukhyamantri Ayushman Bal Sambhal Yojana, a policy specifically designed to support children with rare diseases in Rajasthan.
Global Industry Updates & News
MSUD Gene Therapy Advancement: UMass Chan Medical School has licensed a promising gene therapy designed to correct mutations causing Maple Syrup Urine Disease (MSUD) to Plowshare Therapies.
Resource: UMass Chan News Article
FDA Approval for Lupin: Lupin has received U.S. FDA approval for its generic Glycerol Phenylbutyrate Oral Liquid, which serves as a crucial bioequivalent option for the chronic management of patients with urea cycle disorders (UCDs).
Resource: Express Pharma Report
Rare Pediatric Disease Designation: The U.S. FDA has granted Rare Pediatric Disease Designation to Satellite Bio for its investigational cell-based liver therapy, SB-101, aimed at treating severe early-onset urea cycle disorders in infants.
Resource: Global Genes Daily