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A gene is the functional unit of an individual’s DNA. There are about 22,000- 25,000 coding genes in the human DNA. These genes ‘code’ for important proteins in our body, which help as building blocks for carrying out various functions like growth, development, reproduction, body metabolism; to name a few. They make up for about 5% of the total DNA. With advances in the branch of genetics, we understand that the rest of the ‘non-coding’ DNA, incorrectly dubbed as ‘junk DNA’, also has important implications in the smooth functioning of the individual.

A Clinical Geneticist (commonly called as a Genetic Specialist) is a trained professional who evaluates patients or their families for possible hereditary diseases. A Clinical Geneticist carefully analyzes the clinical history, elicits a complete three to four generation family tree, carries out detailed physical examination, postulates the possible mode of inheritance of the disease, advices and arranges for the special genetic tests, formulates treatment and surveillance plans, and helps to understand the risk of the other family members to develop a given genetic condition. A Clinical Geneticist is a Clinician along with being a Genetic Counsellor; having an added advantage of Medical training to guide the patients More holistically.

As per definition by the European Union a disease is termed as 'rare' when the number of affected subjects is <1:2000. Individually there may be a lot of rare diseases fitting this definition, but taken as a 'group', it is estimated that nearly one in every 13 persons will live with a rare disease at some point in their life. This may be a gross understatement given the large proverbial iceberg of undiagnosed and misdiagnosed cases. India shares nearly one-fourth of the rare disease burden of the world. In terms of absolute numbers, the Indian burden of rare diseases is estimated to be between 9-10 crores individuals. Indeed, ‘Rare is Many’; and the challenges posed by 'Rare' are in fact far More global than perceived.

Some examples of rare diseases include Duchenne muscular dystrophy, cystic fibrosis, Pompe disease, lysosomal storage disorders, multiple sclerosis, Marfan syndrome, amongst others. Irrespective of whether a disease affects millions of people or just a few, the impact of the disease on the family suffering it can be enormous!