Human Genetics & Genome Analysis

Genesis of the Programme

Human Genetics is the study of the transmittance of genes through generations. Alterations in the genome may result into mutations, a fraction of which may lead to disease phenotype. Genetic diseases can be monogenic, chromosomal or multifactorial and are passed down from the parents to the progeny via different inheritance patterns, such as autosomal recessive, X-linked recessive and autosomal dominant.

With a large population size, high birth rate, and consanguineous marriage being favoured in some communities, there is a relatively high prevalence of genetic disorders in India. In this context, the Department’s R&D program on Human Genetics, Genome Analysis and Precision Medicine seeks to address the burden of such diseases via understanding the mutation spectrum of diseases having a genetic basis, developing cost-effective diagnostic methods for genetic diseases, implementing prenatal and newborn screening programs, developing personalized medicines regimens and development of affordable therapies for these diseases.

Objectives

  • Understanding the role of genetic and genomic components in human health and disease, and the cross-talk of these components with environmental factors, lifestyle and cultural practices, by facilitating cutting-edge research involving individuals, families and populations
  • Translating the understanding thus acquired for the improvement of human health by promoting development and dissemination of genomic methodologies and tools for prediction, diagnosis and prevention of disease, and for developing affordable therapeutic interventions
  • Building capacity in human genetics and genomics by promoting training on technology platforms and methodologies for genome analysis in relation to human health and disease

Priority Areas

  1. Precision Health: Predictive, Preventive, Personalized and Participatory healthcare using genome, microbiome and exposome profiling, and improved diagnosis and therapeutics
  2. Rare Genetic Disorders: Affordable Diagnostics and Therapeutics
  3. Mutation spectrum of genetic and complex diseases in the Indian population
  4. Genetic Epidemiology of Multifactorial Lifestyle Diseases
  5. Translational Research: Developing basic genomics research discoveries to candidate health applications including affordable diagnostics, prophylactics and therapeutics

Major Programmes and Initiatives

  1. DBT- Unique Methods of Management of Inherited Disorders (UMMID) initiative

With an aim to address the burden of inherited disorders, the Department launched the DBT- Unique Methods of Management of Inherited Disorders (UMMID) initiative. In the first phase of the UMMID initiative, the Department has supported:

  • NIDAN Kendras (National Inherited Disorders AdministratioN Kendras) for  providing comprehensive clinical care including diagnosis, management, multidisciplinary care, counseling, prenatal testing at five Government hospitals spread across four states of the country
  • Training Centres for providing training to the clinicians working in Government hospitals in Biochemical Genetics, Cytogenetics, Molecular Genetics, Clinical Genetics and Comprehensive clinical care
  • Screening of 10,000 pregnant women and 5,000 neonates per year for diagnosis of inherited genetic diseases in each of the following  seven aspirational districts: Mewat (Haryana); Yadgir (Karnataka); Haridwar (Uttarakhand); Washim & Nandurbar (Maharashtra); Ranchi (Jharkhand); and Shrawasti (Uttar Pradesh)
Human Genetics & Genome Analysis
  1. GenomeIndia: Cataloguing the Genetic Variation in Indians is a pan-India initiative focused on Whole Genome Sequencing of representative populations across India. The goal of the initiative is to carry out whole genome sequencing and subsequent data analysis of 10,000 individuals representing the country’s diverse population. This would help build an exhaustive catalogue of genetic variations for the Indian population, and aid in the designing of genome-wide association chips for the Indian population which will facilitate further large-scale genetic studies in a cost-effective manner. Furthermore, it would also open new vistas for advancing personalized medicine regimen in the country paving the way for predicting health and disease outcomes and modulating treatment protocols on the basis of the genome sequences. Besides, it would help in identifying the population groups which are more susceptible to various risk factors for certain diseases and would thus be instrumental in designing appropriate intervention strategies for such population groups.
Human Genetics & Genome Analysis
  1. Human Microbiome Initiative of select endogamous populations of India

Health and disease outcomes are determined by interactions between the genome and the environment. An important component of the “environment” in the context of human health is the human microbiota which impacts host physiology and development. Factors such as host genetics, diet, geography and ethnicity, contribute in shaping the microbiome. The “Human Microbiome Initiative of select endogamous populations of India” aims at comprehensive characterization of human-associated microbes in carefully selected endogamous population groups with diverse dietary habits including key tribal populations which are not much influenced by modern lifestyle. The study is investigating the influence of diet, lifestyle, geography and age on gut microbiome using targeted metagenomic and whole metagenomic approaches. The study would also attempt to find the association between microbial enterotypes and three distinct Ayurvedic Prakriti types. Moreover, since the subjects for this study are a subset of those whose genome would be sequenced as a part of the “GenomeIndia” initiative, this study would provide important insights into genotype-microbiome associations and would help in generating a holistic account of the intrinsic and extrinsic factors determining health and disease outcomes in humans.

  1. Programme on Monogenic disorders

Monogenic disorders caused by mutations in a single gene are an important cause of fetal loss, preterm birth and neonatal mortality. Besides, it also contributes to childhood and adult morbidity along with considerable repercussion on the mothers and their families. The birth prevalence of monogenic disorders varies due to social, racial, economic and ecological influences. In order to reduce the burden of monogenic disorders (metabolic disorders, endocrine disorders, hemoglobin disorders and others), it is pertinent to understand the epidemiology and molecular basis of these disorders. With this aim, Department of Biotechnology initiated a program on monogenic disorders with a special focus on consortia-based R&D projects aiming to study diseases particularly prevalent in specific regions of the country.

  1. National Genomics Core

The Department has formed a research platform and a National Genomics Core has been created to catalyse and facilitate genomics-driven discoveries and applications. The Genomics Core is accessible to all academic institutions and the industry for their own research and development. The Genomics Core houses and provides access to high-end genomics, computational and other relevant platforms to catalyse discoveries in all domains of biology. The ease of access to these platforms alleviates the challenges faced by researchers across the country to generate and analyse genomics data. The Central Core has been setup at NIBMG, Kalyani, with two regional cores at CDFD Hyderabad, and Allahabad University, Prayagraj.

Quantitative Outcome (Last five years)

Outputs

Numbers

Scientists supported

138

Projects supported

118

Publications

136

Manpower (JRF/SRF/RA etc.) trained

347

Patents Filed/Granted

06

Workshop/Training  programmes organized

05

New Facilities established

03

Call for Proposal for current FY or New Programme Launched (if any)

Concerned Officer for more information

Programme Head Dr Suchita Ninawe,Scientist G
Email sninawe[at]dbt[dot]nic[dot]in
Contact No. 011-24363722
Program Officer: Dr. Onkar Nath Tiwari,Scientist E
Email onkar[dot]dbt[at]nic[dot]in
Contact No. 011-24361290
Attached Officer Dr. Amit Kumar Tripathi, Scientist ‘C’
Email amitkr[dot]tripathi[dot]dbt[at]nic[dot]in