Rare Disease Awareness and Treatment

• Around 10,000 rare diseases have been identified globally, with 80% genetic in origin and primarily affecting children.

• About 300 million people worldwide have a rare disease.

• Raising awareness of rare diseases is crucial for doctors to understand these diseases and to draft policies supporting patients.

• Iliyas Rashid and his team at the Tata Institute for Genetics and Society developed GenTIGS, a gene database on rare genetic disorders.

• Currently, fewer than 5% of rare diseases have treatments approved by the U.S. Food and Drug Administration.

• In India, about 90 million people with rare diseases are likely to be affected due to social practices like endogamy.

• More than 95% of these conditions lack a treatment or are prohibitively expensive.

• Premarital counselling is recommended for those with genetic conditions.

• B.R. Lakshmi and her colleagues at the Molecular Diagnostics Counselling Care and Research Centre (MDCRC) are working on Duchenne muscular dystrophy (DMD), a disorder affecting only male children, with females being the carriers.

• Large-scale genetic screening is being conducted across several districts of Tamil Nadu to detect relevant mutations early and eradicate DMD from the state.