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K’taka launches new research centre for rare diseases 

To provide pre-natal diagnosis for early identification of genetic disorders

The Karnataka government has launched the Research and Training Unit for Rare Diseases here to further strengthen diagnosis, counselling, and treatment, including developing a service facility for prenatal diagnosis for early identification of genetic disorders in pregnancy.

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The foundation stone for the unit, which is an extension of the Centre for Human Genetics (CHG), was laid by Dr Ashwath Narayan CN, Minister for Higher Education; IT & BT, Science & Technology; Skill Development, Entrepreneurship & Livelihood, Government of Karnataka.

“It is a matter of pride that CHG has taken an active role in implementing the National Policy on Rare Diseases, 2021, and 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,” Dr Narayan said at the Bangalore Bioinnovation Centre (BBC).

“Having a history of treating about 2500 families with genetic disorders annually across states in the past 20 years, the centre also holds regular educational modules in Kannada, English, and Hindi, raising awareness of human genetic disorders in PU colleges across Karnataka,” the minister tweeted.

The activities to be undertaken at the Research and Training Unit for Rare Diseases include comprehensive genetic counselling facilities for around 2,500 families with rare disorders, to be evaluated annually; increasing the capacity of diagnostic testing, including exome sequencing; and developing training and service facilities for prenatal diagnosis for early identification of genetic disorders in pregnancy.

It will also provide hands-on training in laboratory genetics and incubate startups 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, among pre-university college students in the state.

The Research and Training Unit for Rare Diseases is an extension of the present CHG building and will be around 40,000 sqft with three floors.

The CHG, under the guidance of Founding Director Prof H Sharat Chandra is recognised nationally as a Centre of Excellence for education, training, and research in genetics concerning 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, said, “The CHG has had an active role in developing the Rare Disease Policy at both the national and state levels. 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, 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 BPL and other eligible patient families, and at a cost to others,” Bhat said.

 

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