Rare genetic disorders affect millions of families across the world, and still they often remain undiagnosed, misunderstood and untreated. DNA errors or changes cause such rare conditions.
For so many years, these diseases remained undetected and invisible in the medical landscape. Families had to move from hospital to hospital, changing doctors, but always ended up with no conclusion, no treatment, no answers.
Simply because the science and technology needed for the diagnosis of these rare diseases did not exist back then.
But today the scenario is very different and promising. Molecular medicine in India is rapidly evolving. Our Indian scientists are working really hard to make the future of Indian genetic medicine brighter.
One such scientist is Dr Ashwin Dalal. Whose journey is rooted in both compassion and curiosity. In this article, we will unfold his journey and discuss some of his novel research.
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Meet the scientist:
Dr Ashwin Dalal is one of the most respected Indian medical geneticists and is currently serving as the head of diagnostics at the Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, Government of India.
Born in 1975 near Kolhapur, Dr. Ashwin Dalal completed his schooling at Jawahar Navodaya Vidhyalaya, Canacona, Goa.
He completed his MBBS with a gold medal and MD in paediatrics, both from the Goa Medical College, Goa University. He joined CDFD as a staff scientist and with his hard work and sharp scientific understanding, Dr. Dalal is now the head of the department of diagnostics at CDFD.
He also contributed his knowledge in establishing the first South Indian medical genetic department at Nizam’s Institute of Medical Sciences (NIMS), Punjagutta, Hyderabad. He is further a member of the task forces of DBT and DST, Government of India.
During clinical training, he encountered and came in contact with children who suffered from severe, unexplained disorders. He observed that traditional medicines offered less help, and this was the sign that pushed him deeper into the world of genetics.
Determined to help these children and fill the gap between research and diagnosis, he pursued a DM in medical genetics at SGPGI, Lucknow.
Over the years, he has published more than 140 peer-reviewed scientific papers, discovered multiple novel disease-causing genes and found novel treatments to cure rare genetic disorders.
Above all, he continues to be a doctor and a scientist. This helps him explore real patients, their struggles and then connect them to research.
His contribution to novel gene discovery:
Dr. Dalal is also known for his novel gene discovery in India. India had never independently discovered a gene with a mutation until 2011. So it was a big breakthrough for Dr. Dalal and team, as well as India.
During our conversation, he explained that “Novel gene discovery is a tedious process.” But the team did it and now 8 to 10 novel genes are under the pipeline to be published soon.
Dr. Dalal is also a part of some of India’s upcoming projects and already ongoing projects that are going to change the status of India’s large burden of rare diseases.
He is a leader of the nationwide project:
Dr. Dalal is a pioneer in launching a mission program on pediatric rare genetic diseases, funded by the Department of Biotechnology, India. He collaborated with 16 different institutes and established the CDFD, Hyderabad, as a Nodal centre for the program.
The objectives of the program are to diagnose pediatric patients with rare genetic diseases and provide them with treatment, if available.
He also trains the future generation:
Dr. Dalal is not only involved in diagnosing genetic diseases, but he is also actively training young scientists and providing them with cutting-edge and state-of-the-art facilities for their research.
He is a part of the National Genomics Core, too, which provides exclusive services and training in the field of genomics to students and young scientists.
Related story: This Indian Scientist Revealed the Impact of Human Activities on Marine Biodiversity Without Touching a Single Fish.
Wrapping up:
Dr. Dalal is one of India’s top genetic scientists right now. He is a visionary and global figure in the Indian genetic community who is constantly trying to bring world-class research and diagnostic facilities to India.
He sets up an example of how determination, dedication and consistent hard work change everything one day, even when the journey is difficult. He started research at a time when funds and technology were limited. But he built everything from scratch and today he is part of world-class research facilities.
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