New Delhi: Researchers at six medical institutes across India plan to study 200 families over four years to understand why auto-immune diseases run in families. The study will look for shared genetic and immune markers that may make relatives susceptible to different auto-immune conditions.
Funded by the Indian Council of Medical Research (ICMR), the project involves AIIMS, New Delhi; Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow; St John’s Medical College, Bengaluru; Nizam’s Institute of Medical Sciences, Hyderabad; Medical College, Kolkata; and AIIMS Bibinagar, Telangana.
Titled “Genomic Profiling and Identification of Targetable Shared Immunopathogenic Events in Multiplex Families with Autoimmune Diseases”, the project is coordinated by Dr Dipyaman Ganguly of Ashoka University in Sonipat, Haryana. It will examine how genetic predisposition and environmental factors interact to trigger auto-immune diseases, in which the immune system mistakenly attacks the body’s own cells and tissues.
Speaking at a press conference at AIIMS, New Delhi, on Thursday, Dr Ranjan Gupta, additional professor in the Department of Rheumatology and the study’s coordinator at AIIMS, said genes alone do not determine who develops an auto-immune disease; environmental factors also play a role.
“Through this study, we will examine both the genetic background and other biological markers to understand why these diseases cluster in certain families,” he said.
Researchers hope the findings will help identify common disease mechanisms and potential targets for future treatments.
Blood tests to identify shared markers
Researchers will collect blood samples from eligible family members, both those with auto-immune diseases and their unaffected relatives. Genomic and immunological analyses will be used to identify genetic variations and immune-related changes shared across different conditions.
By comparing affected family members with their unaffected relatives, researchers also hope to determine whether these markers could help identify people susceptible to auto-immune diseases before symptoms appear.
Gupta cautioned that carrying a genetic marker does not necessarily mean a person will develop the disease.
India currently has no dedicated cohort of families with multiple auto-immune diseases for systematic study, he said. The proposed cohort of 200 families aims to address this gap, although recruiting participants could be challenging.
“Such families are not commonly encountered in routine clinical practice, making recruitment a key challenge,” Gupta said.
To qualify, a family must have at least three members affected by auto-immune diseases and at least two unaffected members.
The study is seeking families in which at least one member has systemic lupus erythematosus (SLE), or lupus, an auto-immune disease that can affect the skin, joints, kidneys and other organs. Other family members should have auto-immune conditions such as myositis, which causes muscle inflammation and weakness; type 1 diabetes, in which the immune system destroys insulin-producing cells in the pancreas; or Sjögren’s syndrome, which affects the glands that produce tears and saliva, often causing dry eyes and mouth.
Families will be recruited over four years, with samples analysed as participants enter the study rather than being stored until recruitment ends, Gupta said. The participating institutes will manage recruitment and research, while the coordinating team at Ashoka University will oversee the project.
AIIMS has already identified two potentially eligible families among patients in follow-up care, although their participation depends on consent and confirmation that they meet the study criteria, said Gupta.
He appealed to eligible families in Delhi and neighbouring areas to contact the AIIMS team. Participation is voluntary, and patients can continue receiving treatment at their existing hospitals.
(Edited by Chingkheinganbi Mayengbam)
Also Read: DGHS flags reuse of single-use medical devices, warns of infection risks and possible overcharging