World Rare Disease Day: All you want to know about rare diseases that affect 70M Indians

New Delhi: World Rare Disease Day is observed on the last day of February to raise awareness about rare diseases and their impact on the lives of patients and their families.

Since 2008, the European Organization for Rare Diseases has been observing the global event with participation from over 100 countries.

Delayed diagnosis, limited treatment facilities, and social isolation are some of the challenges faced by the patients and are highlighted during the observation to improve access to medical care, encourage research, and foster supportive communities.

What is a rare disease?

A disease is considered ‘rare’ when it affects fewer than 1 in 2,000 people, though definitions vary by region. While each rare disease affects a few individuals, collectively, they impact over 300 million people worldwide.

Dr Shailesh Pande, Medical Geneticist, Scientist E & Head, Genetic Research Center, ICMR-National Institute for Research in Reproductive and Child Health said, “This day amplifies the voices of around 70 million Indians and their families navigating the complexities of rare diseases. From bustling cities to the remotest villages, these conditions can affect anyone. While they may be uncommon, the fight for awareness, diagnosis, and treatment is not”.

Genetic changes and rare diseases

Minor genetic changes, including small alterations in DNA, lead to the formation of rare diseases that affect health.

“These changes may occur in chromosomes (the rod-like structures inside our cells that carry genetic information) or genes (the blueprints for essential proteins that keep our heart, muscles, and other organs functioning)”, said Dr Shailesh.

Chromosomal abnormalities occur when there is an excess or deficiency of an entire chromosome or a segment of one. The resulting symptoms differ based on which specific chromosome is involved. These alterations in genetic instructions can result in a variety of uncommon disorders.

Few rare diseases

Among the most prevalent genetic disorders are thalassemia, sickle cell anemia, cystic fibrosis, dermatological conditions, spinal muscular atrophy, Rett syndrome, Fragile X syndrome, muscular dystrophies, and various systemic abnormalities.

While some of these conditions are hereditary, others develop from spontaneous mutations in genetic material. The wide spectrum of symptoms and varying degrees of severity often complicate diagnosis, resulting in delays in patients receiving suitable medical treatment.

Genetic testing and diagnosis

Finding the root cause of these conditions is vital, and genetic testing helps with this. It allows for early diagnosis so families can make better medical choices. Testing can also find carriers who might pass on genetic conditions, enabling prenatal or preimplantation testing to reduce future risks.

“In India, the urgency of addressing rare diseases cannot be overstated. Every year, nearly 5 lakh infants are born with congenital malformations, and around 4 lakh are affected by inborn errors of metabolism — a staggering number that demands urgent attention. This calls for collective action from policymakers, healthcare professionals, researchers, and the public to raise awareness, improve access to genetic testing and treatment, strengthen policies, and accelerate research”, Dr Shailesh Pande added.

The rare genetic disorders can be identified and prevented. The role of parents and caregivers in seeking genetic evaluation for children with rare diseases is vital. Early identification and awareness can help families understand their child's condition, visit the right specialists, and improve long-term outcomes.