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Indian Collaborative Research Consortium on Wilson Disease
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.
Contact Dr. Binu Kumar binukumar@igib.res.in
Collaborating on Liver Diseases
Collaborating on Liver Diseases
We invite you and your Department/Institute to be part of this ongoing collaborative effort on the Genetic Landscape of Inherited Liver Diseases in India
Binukumar BK Ph.D
Binukumar BK Ph.D
Senior Scientist
CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB)
Lab Webpage : https://sites.google.com/igib.in/bk-lab/home
Key Resources
Key Resources
WilsonGen a comprehensive Clinically Annotated Resource for Genetic Variants in Wilson Disease
Characterization of the Genetic Landscape of Wilson Disease
Characterization of the Genetic Landscape of Wilson Disease
As part of the clinical outreach of the GUaRDIAN initiative, we help clinicians with genetic characterization of Wilson Disease as part of the ongoing research.
Referring patients
Referring patients
Clinicians could refer patients to the research programme. We provide genetic sequencing of the hotspots of ATP7B gene. Please contact Dr. Binu Kumar binukumar@igib.res.in for more details
The programme has a standardized referral and consenting process which is detailed online .
Publications
Publications
Kumar M, Gaharwar U, Paul S, Poojary M, Pandhare K, Scaria V, Binukumar BK
WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s Disease
Scientific 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)
ICROWD Consortium, Binukumar BK*.
Translational Genomics. 2020, Vol. 1 No. 1 (2020): Issue 1
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