Tribe-Relevant Investigations into Genetic-disorders and Gen

An approximate 3% of tribals in India are affected with sickle cell anemia and amid consanguinity, there are many unreported/under-reported rare genetic disorders/diseases/health-conditions associated with them. We would like to take this forward with advanced molecular diagnostics and social welfare programmes in collaboration with ICMR-NIRTH, India and bring the extensive endurance approach through our TRIGGER program.

The genetic diversity is best seen not only in mitochondrial DNA but also in noncoding regions of the genome that form the underlying proposal to develop NGSpanel. We aim to identify genetic disorders associated with common diseases of the tribal population. This will allow us to study relatedness, divergence, consanguinity and come up with a cohort of genes responsible for varied tribal diseases, which can be used for the development of a panel. 

The solution will largely serve the vernacular/rural/tribal population of India where sickle-cell anemia and other blood related disorders (haemoglobinopathies) exist. A cost-effective paper based validation is already on the anvil, but for broader scope these studies could take up next level to predict the outcome of such diseases in the underlying/offspring population. 

We have a large experience in the area of clinical genomics and health/bioinformatics and our aim is to bridge the gap between geneticists and clinicians together and to reach to the under-previledged population of tribals living in remote/rural areas where relatively higher prevalence of genetic disorders such as Sickle Cell Anaemia and other haemoglobinopathies (such as Thalassemia etc) is observed, primarily attributed to consanguinity and lack of awareness. 

Prashanth N Suravajhala: A PhD in Systems Biology from Aalborg University, Denmark., Prashanth N Suravajhala went on to gain more than 7 years of postdoctoral experience across four different laboratories. Prash worked for  Birla Institute of Scientific Research, Jaipur on his return to India where he successfully led three projects in the areas of  systems genomics of rare diseases and next generation sequencing analysis of cancers and diabetes. He has interests exploring the known unknown regions in the human genome, primarily working on the top-down systems biology approaches of hypothetical proteins. Over the last eight years, he has developed an interest in long noncoding RNAs in humans, elucidating the mechanisms underpinning small molecular interactions through clinical exomes. His group has benchmarked pipelines and developed methods for systems genomic integration. He is an Associate Editor of  Frontiers in Genetics/Systems Biology, Bio-Protocol, Biomolecules. BMC Medical Genomics.  He strongly advocates open access and open science.  His group page can be reached at http://www.bioinformatics.org/wiki/Prash

Pushpendra Singh, PhD:  Pushpendra is a Scientist E in ICMR-NIRTH Jabalpur where he heads the Microbial Pathogenesis and Genomics Lab and is also the Nodal Officer of the Model Rural Health Research Unit (MRHRU), Badoni, in the Datia District (MP). he is currently also the in-charge of the Virology and Zoonoses group. His group at ICMR-NIRTH is working on Diagnostics, Genomics and Molecular epidemiology of diseases (particularly TB and Leprosy). Their group has started setting up our lab gradually with the support of various funding agencies from India and abroad, namely DBT & UGC (India); Leprosy Research Initiative, The Netherlands and the Leprosy Mission Canada, and Seeding Labs. He can be reached at https://www.nirth.res.in/scientist_profile.php?sid=37693cfc748049e45d87b8c7d8b9aacd  

Ravindra Kumar, PhD: Ravindra is a Senior Scientist at ICMR, NIRTH and is committed for prevention and control of hemoglobinopathies in tribes. He can be reached at    

https://www.linkedin.com/in/ra...

Renuka suravajhala, PhD:  Renuka is a Research Scientist with interests in Structural Biology and Synthetic Biology. She can be reached at https://www.linkedin.com/in/ra... 

The tribal population are the most neglected subpopulation of India and we are interested in bringing the health care entities closer to them.  One of the challenges that we could think of is sample acquisition from them. However, with the partnership of ICMR-NIRTH Jabalpur, this problem can be solved effectively as ICMR-NIRTH has been conducting such field-based investigations for a long time. They have also identified the populations wherein different genetic disorders/haemoglobinopathies such as Sickle Cell Anaemia and Thalassemia is relatively more common. They have been conducting molecular diagnostics and screening for several years in different districts. In the current proposal, we aim to develop a panel for screening of various genetic diseases simultaneously so that the carrier state can also be identified and accordingly genetic counseling can be conducted. 

There is an unmet need for identifying causal/deleterious/bona fide mutations in tribal populations.  Endurance is the key for which we would like to exploit and identify as many rare diseases andgenetic variants associated with them. 

We plan to take this test into the market in association with hospital chains, MD Medicine specialists & pathological laboratories. We plan to organize CMEs at various hospitals and bring awareness among clinicians about the benefit of rareBiomarker tests after the technology transfer process.

We would like to work with two non-governmental organizations associated with Amrita University, ICMR-NIRTH, Rotary.org WASH projects in lieu of meeting the milestones for this project.

We target and consider "Good health and well-being" as one of the prime indicators for this challenge.  The rare diseases in India esp in tribal subpopulations is scarcely met and we would like to bridge the gap.  

We plan to establish Biomarkers for  tribal Indian rare diseaseswhich may be divided into 2 categories:

1. Biomarkers which can categorize the individual who are susceptible for developing clinically significant rare diseases

2. Biomarkers which can identify the individuals who are currently associated with the rare diseases, viz. Sickle Cell Anemia, Congenital Anamolies that are undetected/undiagnosed, Gaucher's etc. 

Next Generation Sequencing alaised "Now generation sequencing"  is the key for development of a panel.  we would liek to employ and use cutting edge technologies such as Nanostring!

The ICMR-NIRTH lab  ( retrospective and prospective data!)

Tribes in India are under-represented communities and we would liek to bridge the gap in making health-care a reality for them!

We plan to take this test into the market in association with hospital chains , MD Medicine specialists & pathological laboratories. We plan to organize CMEs at various hospitals and bring awareness among clinicians

Seed funding from Government of India

Seed funding from industries whou would share IPR with us

Our industry relevant R and D projects have alreayd been in place, for example., we have bene instrumental in developing Vitamin K panel