National Symposium on Genetic Diseases, New Delhi, 15th-16th October 2022

It was wonderful to be able to come to India again after nearly three years of Covid-induced absence, to meet old friends and make new ones.

The National Symposium on Genetic Diseases was aimed at reinforcing established ideas and concepts, while introducing new ones. It was organized by the Rare Diseases India Foundation (RDIF). The organising committee consisted of Mr Saurabh Singh, Co-founder, RDIF, Lt. Col. Aradhana Dwivedi, Medical Geneticist and Assistant Professor, Army Hospital Research and Referral, New Delhi, Dr Veronica Arora, Consultant Clinical Geneticist and Assistant Professor, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, and myself. The sponsors were Lifecell Diagnostics, Redcliffe Labs, Takeda, Medgenome, Sanofi, Lilac Insights, Genetico, Dr Lal Pathlabs and Genes2Me.

A critical component of the symposium was a workshop, organised by Veronica, Aradhana and Dr Sameer Bhatia from Sir Ganga Ram Hospital. The workshop was preceded by lectures covering basic aspects of genetics and genetic testing.

The symposium was inaugurated by Prof I.C, Verma, Senior Consultant and Head, Department of Medical Genetics, Sir Ganga Ram Hospital, New Delhi.

The first session featured a guest lecture by Prof Vivek Jha, Executive Director, George Institute for Global Health, India and Professor and Chair of Global Kidney Health, Imperial College, London. He spoke on nephrogenetics, drawing attention to the similarities with other rare genetic diseases.

The second session focused on LSDs. In addition to basic cell biology and molecular genetics (Dr Sunita Bijarnia-Mahoy and Dr Neerja Gupta), the challenges of making an early clinical diagnosis were highlighted, and possible solutions involving innovative tools such as AI explored (Dr Ashok Vellodi). The diagnosis and management of Gaucher disease was described, with a focus on new directions (Dr Mamta Muranjan).

In her keynote lecture, Prof Phadke presented an overview of the two major forces in India’s genetic landscape; endogamy and consanguinity.

Prof Arndt Rolfs, live streaming from Germany, presented a new technique for whole genome sequencing and made a compelling case for its inclusion in the diagnostic armory for rare diseases.

The second session featured five talks covering the entire gamut of genetic diseases and aimed squarely at its cutting edge, from preimplantation genetic diagnosis (Prof Seema Thakur) and newborn screening (Dr Rama Devi), to genetic manipulation in spinal muscular atrophy (Prof Shefali Gulati) and gene therapy (Prof Madhulika Kabra). A novel approach to diagnosis, that of artificial intelligence, was presented by Dr Harsh Sheth.

Full details of the programme can be found on the RDIF website

Below are some pictures from the symposium

Prof Verma Lighting the inaugural lamp
Prof Verma giving the inaugural address
Mr Saurabh Singh
Dr Veronica Arora
Lt Col Aradhana Dwivedi