Genomics of Primary Immunodeficiency Disorders
The GUaRDIAN Programme on Primary Immunodeficiency Disorders is a collaborative initiative to provide holistic approach to patient care including genomic diagnosis, management and prevention of Primary Immunodeficiency Disorders.
Govt. Medical College Kozhikode, KERALA
The collaborative programme on Primary Immunodeficiency Disorders at Government Medical College Kozhikode is established as part of the research collaboration between the Government Medical College Kozhikode and the CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB) to understand the genetic landscape of primary immunodeficiency disorders in the state as part of the GUaRDIAN Initiative.
The programme today has resulted in a comprehensive care centre for Primary Immunodeficiency Disorders in the region providing comprehensive care to patients and families.
In News
Genome sequencing: A solution to India's problem of rare genetic diseases
Economic Times NOV 02, 2019
Diagnostic centre for primary immune deficiency disorders
The Hindu MARCH 25, 2019
Spotlight on Primary Immune Deficiency Disorders
Handbook for Clinicians (1st Edition 2019)
Printable Poster on Primary Immunodeficiency
Education
November and December 2020 Online
Sunday, August 18, 2019, Govt. Medical College, Kozhikode, KERALA
Publications
Govindaraj GM, Krishnakumar P, Scaria V, Athulya E, Ajithkumar VT, Dongre AR.Building on an Ad Hoc Covid-19 Response to Enhance Community-based Care for Vulnerable Children in Kerala, India. NEJM Catal Innov Care Deliv. (2020) doi: 10.1056/CAT.20.0543.
Govindaraj GM, Ramya U, Raj R, Athulya EP, Jain A, Scaria V, Jayakrishnan MP, Sivasubbu S, Dhanasooraj D, Ajithkumar VT, Dongre AR, Krishnakumar P.Parental Experience of Hematopoietic Stem Cell Transplantation for Children with Primary Immune Deficiency Disorders.Indian J Pediatr. (2020) Oct 23. doi: 10.1007/s12098-020-03541-3. Online ahead of print.
Govindaraj GM, Jain A, Peethambaran G, Bhoyar R, Vellarikkal SK, Ganapati A, Sandhya P, Edavazhippurath A, Dhanasooraj D, Puthenpurayil JM, Chakkiyar K, Mishra A, Batra A, Punnen A, Kumar S, Sivasubbu S, Scaria VSpectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome PLoS ONE (2020) https://doi.org/10.1371/journal.pone.0237999
Sharma P, Jain A, Scaria VGenetic landscape of rare autoinflammatory disease variants in Qatar and Middle Eastern populations through the integration of genomic datasetsmedRxiv (2020) .08.10.20171363; [This is a preprint and presently under peer review]
Koshy R, Sivadas A, Scaria V.Genetic epidemiology of Familial Mediterranean Fever through integrative analysis of whole genome and exome sequences from Middle East and North AfricaClinical Genetics (2017) Jan;93(1):92-102. doi: 10.1111/cge.13070
Sandhya P, Vellarikkal SK, Nair A, Ravi R, Mathew J, Jayarajan R, Kumar A, Verma A, Sivadas A, Danda D, Sivasubbu S*, Scaria V*An Egyptian tale from India - application of whole-exome sequencing in diagnosis of atypical Familial Mediterranean FeverInt J Rheum Dis (2017) Nov;20(11):1770-1775. doi: 10.1111/1756-185X.13042.
Govindaraj GM, Karuthedath Vellarikkal S, Jayarajan R, Ravi R, Verma A, Chakkiyar K, Jayakrishnan MP, Arakkal R, Raj R, Kunnaruvath R, Sivasubbu S, Scaria VCase Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiencyF1000Research 2017, 5:2532
Govindaraj GM, Riyaz A, Krishnan C, Scaria V.Rapid Transition of Facial Features from Early to Mid - Adolescence in Autosomal Dominant Hyper IgE Syndrome with a STAT3 Variation.Indian J Pediatr. 2018 Jul;85(7):595-596.