Indian Collaborative Research Consortium on Wilson Disease The iCROWD consortium aims at using cutting edge genomics technology to enable identification of genetic variations in diseases and help clinicians arrive at a precise diagnosis for rare genetic diseases. Apart from working closely with clinicians, we aim to foster education, awareness and the widespread adoption of genomic technology in clinical settings, in addition to creating and disseminating the highest standards of genomic data generation and interpretation. We invite you and your Department/Institute to be part of this ongoing collaborative effort. Contact Dr. Binu Kumar binukumar@igib.res.in | RESOURCES  WilsonGen a comprehensive Clinically Annotated Resource for Genetic Variants in Wilson Disease PUBLICATIONS Kumar M, Gaharwar U, Paul S, Poojary M, Pandhare K, Scaria V, Binukumar BKScientific Reports (2020) 10, : 9037 Mhaske A, Dileep KV, Kumar M, Poojary M, Pandhare K, Zhang KYJ, Scaria V, and Binukumar BK (2020) ATP7A Clinical Genetics Resource - a comprehensive clinically annotated database and resource for genetic variants in ATP7A gene. Computational and Structural Biotechnology Journal. Accepted (2020) | Referral Process As part of the collaborative initiative, we aim to study the genetic spectrum of Wilson's Disease. Please contact us for more details. We have a standardized referral and consenting process which is detailed online at at http://guardian.meragenome.com/referral GUaRDIAN : Intergrating Personalised and Precision Medicine One of the programmes we have initiated is Genomics for Understanding Rare Disease, India Alliance Network (GUaRDIAN), which is a large-scale collaborative network of clinicians from around India trying to integrate genomics in clinical practice, with the a singular focus to elucidate the genetic structure of rare genetic diseases in India. |
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