Rare Disease Day 2025: Raising Awareness On Stem Cell Breakthroughs

Rare Disease Day, observed on February 28th, aims to raise awareness about rare diseases and the challenges faced by patients worldwide.

Rare Disease Day 2025

Source : ABPLIVE AI

(By: Dr. Mrinalini Chaturvedi, Medical Director at Cryoviva Life Sciences)

The Foundation for Research on Rare Diseases and Disorders has estimated that about 70 million people are affected with rare genetic diseases in India. Rare diseases affect multiple organ systems and approximately 50–75% of them affect children. Nearly 80% of all rare diseases are estimated to have an underlying genetic aetiology. The Indian Council of Medical Research (ICMR) has recently set up a National Registry for Rare Diseases, which compiles epidemiological data on rare diseases and estimates that there are around 4000 rare diseases identified in our country. 

Cord Blood Or Hematopoietic Stem Cell Transplants:

Cord Blood is a rich source of stem cells. Stem cells help in regenerating diseased or damaged tissues and correcting certain genetic defects, and this is what offers hope for those living with these rare, debilitating diseases. While rare diseases affect small populations, can often be severe and current treatments may be limited or non-existent. Stem cells have shown promise in providing groundbreaking treatments for a variety of rare diseases especially those related to genetic mutations, cellular damage, and tissue degeneration.

Cord blood stem cells have been used to treat a variety rare diseasess. For example, Cord Blood Stem Cell Transplants are one time curative treatment for many rare diseases such as Inborn Errors of Metabolism (Lysosomal Storage Disorders (LSDs),

Mucopolysaccharoidosis (MPS) type I, Adrenoleukodystrophy, includes Gaucher’s Disease, Krabbe Disease, Hurler Disease, Hunter Disease, Neimann Pick disease. Cord Blood Stem Cell Transplants are a standard of care and curative for rare diseases of the immune system such as Immune deficiency disorders such as Severe Combined Immunodeficiency (SCID), Chronic Granulomatous disease, Wiskot Aldrich Syndrome), Osteopetrosis and red cell disorders like Thalassemia, Sickle Cell Anemia, Fanconi Anemia.

Stem Cell Potential Transplants In Cancer Treatment

In addition, Cord Blood stem cells Transplants are used in treatment of certain types of cancer, including Leukemias, Lymphomas, and Neuroblastoma. In some cases, stem cell transplants have been used as part of a clinical trial for rare autoimmune diseases like systemic lupus erythematosus (SLE) and multiple sclerosis (MS). For other rare diseases like Cystic Fibrosis and Duchenne’s Muscular Dystrophy, potential therapies using stem cells are being researched upon in clinical trials.

On Rare Disease Day, we would advocate and create awareness around new innovative treatments, such as stem cell therapy and cord blood transplants. 

[Disclaimer: The information provided in the article, including treatment suggestions shared by doctors, is intended for general informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition.]