New Delhi: Why do some families have multiple members with autoimmune diseases while others remain unaffected?An ICMR-funded research project involving AIIMS, New Delhi, and five other clinical centres aims to investigate the genetic and immunological factors that may explain why these diseases cluster within families.The four-year study aims to recruit 200 families in which at least three members have autoimmune diseases, including at least one person with systemic lupus erythematosus (SLE), commonly known as lupus. Each participating family must also include at least two unaffected members, taking the minimum number of participants to five.The project, titled Genomic Profiling and Identification of Targetable Shared Immunopathogenic Events in Multiplex Families with Autoimmune Disease, is coordinated by Dr Dipyaman Ganguly, a faculty member at Ashoka University, Sonipat. AIIMS Delhi is among the collaborating clinical centres, along with Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGI), Lucknow; St John’s Medical College, Bengaluru; Nizam’s Institute of Medical Sciences, Hyderabad; Medical College, Kolkata; and AIIMS Bibinagar, Telangana.Researchers will collect blood samples from both affected and unaffected family members and examine genetic variations, cytokine profiles and other biological markers. Comparing relatives with and without autoimmune diseases could help explain why some develop the conditions despite sharing a family background and potentially similar genetic predispositions.“Genetics alone does not explain why everyone carrying a particular genetic marker does not develop the disease,” Dr Ranjan Gupta, additional professor in the department of rheumatology at AIIMS, said while explaining the rationale behind the study. Environmental influences and differences in immune responses may also play a role, he said.Lupus will be the primary disease used to identify eligible families, while other affected relatives may have conditions such as myositis, Sjögren’s syndrome, type 1 diabetes or vitiligo, subject to the study’s eligibility criteria.The researchers hope to identify shared disease mechanisms and biological changes that could serve as potential targets for future treatments. The findings may also help identify biomarkers associated with disease risk, although these remain research objectives rather than established outcomes.Recruitment and analysis will proceed over the four-year period rather than waiting until all 200 families have been enrolled. The target is for all six centres combined, not each centre individually.The research team is inviting families in Delhi and surrounding areas to contact it to explore participation. Patients already receiving treatment elsewhere may also express interest. Eligibility and registration requirements will be assessed by the team.Those who want to be a part of the study can contact 7303061991 or email to dr.guptaranjan@aiims.edu.
