Science & Society

Genomics in Clinics
(In collaboration with Sridhar Sivasubbu Lab)

We work closely with Patients, Patient Support Groups and Clinicians towards popularizing genomics and its applications in clinical settings.

Clinical Collaboration- Genomics of Rare Genetic Diseases-
Read more on our initiative to understand rare genetic diseases in India using genomics tools involving a large number of clinicians and researchers. (Visit GUaRDIAN Website)
  • Rare Disease India page on Facebook is one of the most popular Facebook pages for rare diseases in India. (Visit the page)
  • Patient Support Groups
    We are actively involved in maintaining the following patient support groups and helping clinicians provide a genetic diagnosis.
    Achondroplasia India
Next generation Sequencing based approach for diagnosis of Mitochondrial Disorders
The diverse clinical spectrum of diseases manifested by mitochondrial dysfunction demands proper interpretation and analysis of mtDNA variants. mit-o-matic is a tool designed to provide clinically relevant information distributed in disparate resources for understanding and annotating mtDNA variations.

Bench to Bedside for Mitochondrial Disease Diagnosis

April 2016:
 The know-how for mitochondrial sequence analysis has been transferred to Eurofins Clinical Genetics India Ltd (Subsidiary of Eurofins Scientific, a world leader in testing services).
The product is available in the Indian market.

Find more Information
More about Eurofins Clinical Genetics India


Genomics for Cancer Diagnosis

INVITING EXPRESSION OF INTEREST FROM INDUSTRY


Inviting Expression of Interest from Industry to license/partner/co-develop/commercialise a Computational pipeline for analysis and clinical interpretation of Myeloid Cancer panel data. 

For more info, see https://is.gd/myeloid
Contact person: Mr Pankaj Bansal, Head, Business Development
email : pbansal@igib.res.in

ADVANTAGES 
1. Easy to use web-based interface which can be used online/offline or on the cloud 
2. Standard data analysis and interpretation interface with automation of all aspects from alignment, variant calling and clinical reporting (FASTQ to Report). 
3. High quality data curation by expert clinicians with tagging of clinically relevant and actionable mutations and Pharmacogenetic variants. 
4. Customizable database to include lab-specific /custom data of relevance. 
5. Compatible with major next-generation sequencing based gene panels for Myeloid neoplasms 
6. Enables identification and characterization of clinically relevant Internal Tandem Duplications (ITD)s 
7. Standardized interface and reporting including option to export in standard PDF formats.

Infectious Diseases
(In collaboration with Sridhar Sivasubbu Lab)

Pathogens
We have been working closely with clinicians to develop genomic approaches for fast and accurate diagnosis of pathogens.

Antibiotic Resistance
Read more on our recent work on methodology for identification of antibiotic resistance genes in common fomites.
Publication: Jalali et al, (2015) PLoS ONE
Review in Nature India

Education
As part of the CSIR-800 Programme of AcSIR, members in my laboratory has been involved in creating education material for blind students.
More about Saamarthya