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Karnataka gives a booster shot to rare diseases diagnosis & therapy with new dedicated research centre

Nandita Vijay, Bengaluru
Friday, August 12, 2022, 08:00 Hrs  [IST]

In its efforts to provide faster diagnosis and new therapeutic options for rare diseases, the Karnataka government is now setting up a Research and Training Unit for Rare Diseases which is an extension of the Centre for Human Genetics (CHG) housed within the Bangalore Bioinnovation Centre. The Research and Training Unit will be around 40,000 sq.ft with three floors.

The dedicated infrastructure will help increase capacity of diagnostic testing, including exome sequencing and develop training and service facility for prenatal diagnosis for early identification of genetic disorders in pregnancy. It will enable comprehensive genetic counselling facilities for around 2,500 families with rare disorders which need to be evaluated annually.

Research and Training Unit for Rare Diseases is here to further strengthen diagnosis, counselling, and treatment, including developing service facility for prenatal diagnosis for early identification of genetic disorders in pregnancy, said Karnataka Minister for Higher Education; IT & BT, Science & Technology; Skill Development, Entrepreneurship & Livelihood, Dr Ashwath Narayan C N.

“Centre for Human Genetics has taken an active role in implementing the National Policy on Rare Diseases, 2021, which is also among the 8 Centre of Excellence in the country for R&D of Rare Diseases. Scientists' long-term goal is to provide solutions for questions & challenges,” he added.

The new facility once commissioned will also provide hands-on training in laboratory genetics and incubate start-ups in developing low-cost therapies for rare disorders along with conducting regular educational modules in Kannada, English and Hindi for raising awareness of human genetic disorders, their early recognition and treatments available.

The CHG, under the guidance of Prof. H Sharat Chandra, founding director is recognised nationally as a Centre of Excellence for education, training, and research in genetics in relation to human health and disease, and for the past 20 years, has been providing high-quality genetic services to patients with rare diseases from all over the country.

CHG director, Prof Jayarama S Kadandale, director, CHG said, “The National Policy for Rare Diseases announced by the Government of India in April 2021 has identified CHG along with Indira Gandhi Institute of Child Health as one of eight Centres of Excellence in the country.”

Dr Meenakshi Bhat, associate director, Centre for Human Genetics said, “Nearly 35,000 families with genetic disorders have been diagnosed and counselled in the past 15 years. The genetic laboratories at CHG provide diagnostic testing in around 5,000 patients per year. The majority of these patients are from government hospitals in Karnataka and these services are provided free to below the poverty line (BPL) and at cost to others.


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