Delhi AIIMS joined a new study on autoimmune diseases funded by the ICMR. Researchers will examine genetic differences in families with multiple affected members to find better treatments. Dr. Ranjan Gupta said, “This is the first time in India that a cohort of families is being studied in this manner.”

Funded by the Indian Council of Medical Research (ICMR), the study will examine genetic and immune-system differences between affected family members and their unaffected relatives. Researchers hope to identify shared disease mechanisms that could provide new targets for treatment and biomarkers to help predict disease risk.

Titled “Genomic Profiling and Identification of Targetable Shared Immunopathogenic Events in Multiplex Families with Autoimmune Diseases”, the study is led by Dr Dipyaman Ganguly, a faculty member at Ashoka University, which will serve as the coordinating centre. Participating hospitals will facilitate the collection of patient samples, AIIMS experts said at a press briefing on Thursday.

“This is the first time in India that a cohort of families with multiple members affected by autoimmune diseases is being studied in this manner. Similar studies have been conducted internationally,” said Dr Ranjan Gupta, additional professor in AIIMS’s department of rheumatology.

To qualify, a family must have at least three members diagnosed with an autoimmune disease and two unaffected members. Researchers will collect blood samples from both groups for genomic profiling, cytokine profiling and RNA analysis to identify biological differences that might explain why some relatives develop the diseases while others do not.

“Some genetic markers associated with autoimmune diseases are already known. However, carrying these markers does not mean that a person will necessarily develop the disease. Environmental factors also play a role,” Gupta said.

The findings could help researchers identify biological processes common to different autoimmune diseases and potential targets for future treatments, he added.

The participating institutions are AIIMS Delhi, AIIMS Bibinagar, Sanjay Gandhi Postgraduate Institute of Medical Sciences in Lucknow, Kolkata National Medical College, St John’s Medical College in Bengaluru and Nizam’s Institute of Medical Sciences in Hyderabad. Ashoka University will coordinate the study.

“Finding eligible families is a key challenge, as multiple cases of autoimmune diseases within the same family are relatively uncommon. Hence, multiple institutions come together on board to get eligible families,” Dr Ranjan said. He added, his team had identified two such families so far from AIIMS New Delhi, against a target of 200.

The researchers said they are inviting families, who think they are eligible to contact AIIMS and explore participation in the study.