{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:05:36Z","timestamp":1760058336684,"version":"build-2065373602"},"reference-count":77,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Sciences"],"abstract":"<jats:p>India\u2019s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations. COVID-19 further exacerbated the issues with such sample sharing. Congenital Hyperinsulinism (CHI) is a rare genetic disorder of pancreatic \u03b2-cells causing hypoglycaemia in children due to abnormal insulin secretion. Given India\u2019s high birth rate and consanguineous populations, annual CHI cases are estimated to be around up to 10,000, with up to 50% having unexplained genetic causes. Diffuse or atypical lesions in such patients often necessitate near-total-pancreatectomy, risking pancreatic exocrine insufficiency and diabetes, requiring lifelong therapy. Also, novel genetic variations complicate accurate diagnosis, risk assessment, and counselling, emphasising the need for rapid genetic assessment to prevent neurological injuries and inform treatment decisions. Despite significant efforts at many institutes, there are no dedicated organisations for CHI in India. With the implementation of the National Policy for Rare Diseases 2021, we plan to form a non-profit organisation, \u201cCongenital Hyperinsulinism India Association (CHIA)\u201d, comprising paediatric endocrinologists, paediatricians, geneticists, and independent researchers. The aims of this association are to generate a national database registry of patients, formulate a parent support group and CHIA consortium, design patient information leaflets, as well as foster genomic collaborations and promote clinical trials. Such steps will help sensitise the health authorities and policy makers, urging them to improve the allocation of health budgets for rare diseases, as well as empower patients and their families, contributing towards a better quality of life.<\/jats:p>","DOI":"10.3390\/medsci13020037","type":"journal-article","created":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T11:17:57Z","timestamp":1743506277000},"page":"37","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4915-4097","authenticated-orcid":false,"given":"Jaikumar B.","family":"Contractor","sequence":"first","affiliation":[{"name":"GMERS Medical College, Panchmahal, Godhra 389120, Gujarat, India"},{"name":"Congenital Hyperinsulinism India Association (CHIA), Anand 388325, Gujarat, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Venkatesan","family":"Radha","sequence":"additional","affiliation":[{"name":"Madras Diabetes Research Foundation (ICMR Collaborating Centre of Excellence), Chennai 600086, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krati","family":"Shah","sequence":"additional","affiliation":[{"name":"One Centre for Genetics, Vadodara 390007, Gujarat, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Praveen","family":"Singh","sequence":"additional","affiliation":[{"name":"Pramukhswami Medical College, Bhaikaka University, Karamsad 388325, Gujarat, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunil","family":"Tadepalli","sequence":"additional","affiliation":[{"name":"Congenital Hyperinsulinism India Association (CHIA), Anand 388325, Gujarat, India"},{"name":"Labnetworx Health IT LLP, New Delhi 110092, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Somashekhar","family":"Nimbalkar","sequence":"additional","affiliation":[{"name":"Congenital Hyperinsulinism India Association (CHIA), Anand 388325, Gujarat, India"},{"name":"Pramukhswami Medical College, Bhaikaka University, Karamsad 388325, Gujarat, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5038-6210","authenticated-orcid":false,"given":"Viswanathan","family":"Mohan","sequence":"additional","affiliation":[{"name":"Madras Diabetes Research Foundation (ICMR Collaborating Centre of Excellence), Chennai 600086, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4402-8297","authenticated-orcid":false,"given":"Pratik","family":"Shah","sequence":"additional","affiliation":[{"name":"Congenital Hyperinsulinism India Association (CHIA), Anand 388325, Gujarat, India"},{"name":"The Royal London Childrens Hospital, Barts Health NHS Trust, E1 1FR & Queen Mary University of London, London EC1M 6BQ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,1]]},"reference":[{"key":"ref_1","unstructured":"Technical Group on Population Projections (2020). 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