Genomics of Inherited Liver Diseases

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

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

Senior Scientist

CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB)

Lab Webpage : https://sites.google.com/igib.in/bk-lab/home

Key Resources

WilsonGen a comprehensive Clinically Annotated Resource for Genetic Variants in Wilson Disease

http://clingen.igib.res.in/WilsonGen/

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

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

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*.

The Indian Collaborative Research on Wilson’s Disease-an effort to understand the genetic epidemiology of Wilson's Disease in India.

Translational Genomics. 2020, Vol. 1 No. 1 (2020): Issue 1