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The 48th Annual meeting and international conference of the Indian Society of Human Genetics

The 48th Annual meeting and international conference of the Indian Society of Human Genetics, jointly organised by FRIGE’s Institute of Human Genetics and Gujarat Biotechnology Research Centre, was held from Jan 21 to 24, 2024, in Ahmedabad, India. The motto of this year’s event was Sarva mangalam bhavatu, which means peace, health, and prosperity for all.

The conference was attended by over 700 delegates, including 130 faculties and 36 biotechnology companies from 13 countries who discussed and deliberated on the progress made in basic genetics, and translational aspects including screening, diagnosis, prevention, and novel treatment approaches in rare genetic disorders. With over 7000 such disorders, it is estimated that India may have around 70 million cases most of which remain undiagnosed and for ∼95% of these, no approved treatment is available. These alarming statistics reflects burdensome lives of patients, families and healthcare fraternity who are deeply impacted by rare genetic disorders.

Ongoing national and international focus on epidemiological studies understanding the incidence and distribution of genetic disorders such as inborn errors of metabolism, neurological disorders, hereditary cancer predisposition syndromes, neonatal screening programme and registry for rare genetic disorders by the Indian Council of Medical Research (ICMR) constituted thematic areas of discussion at the conference.

This involved discussion of the National Rare Disease policy,5 establishment of centre of excellences for rare diseases (COEs) in all states, and new research and policy implementation programs for rare disease treatment, specifically enzyme replacement therapy for metabolic disorders and gene therapy for sickle cell disease, that are under development at both state and national levels in India.

The conference offered a wonderful platform for over 400 young researchers, 250 clinicians from all corners of India and abroad to display their latest scientific and technological advancements in understanding genetic disease aetiologies, disease biology and efforts towards development of novel therapeutics for several rare diseases; and facilitated interactions with the experts. The conference deliberations were focused on fostering cross-disciplinary and multinational collaborations within the rare disease research community in India.

ISHG president Prof B K Thelma said, “I am delighted to see such a huge and nice audience and hope what we discussed here will give benefits to researchers and policy makers while formulating research and administration policies toward rare diseases”.