|2015 NextGen Genomics, Biology, Bioinformatics and Technologies (NGBT) Conference|
|1st - 3rd October 2015, HICC, Hyderabad, INDIA|
|Conference Hosts: SciGenom Research Foundation (SGRF), Centre for Cellular and Molecular Biology (CCMB) &
Institute of Bioinformatics (IOB).
|Pre-Conference Hands-on Nextgen Sequencing and Bioinformatics Workshop|
|24th - 30th September, 2015, Centre for Cellular and Molecular Biology (CCMB), Hyderabad, INDIA|
Thelma B.K is a Professor in the Department of Genetics at the University of Delhi South Campus, New Delhi, India. She is the Principal investigator and Co-ordinator of the Centre of excellence on Genomes Sciences and Predictive Medicine funded by the Govt. of India. She is also the Co-ordinator of a major project on newborn screening for inborn errors of metabolism in Delhi state which aims to demonstrate the feasibility of mandatory screening of newborns in the country and to generate epidemiological data for the testable IEMs in the genetically distinct Indian population, for the first time. Discovery genomics is the major thrust of her research and ongoing projects include genetic analysis of complex traits including brain and inflammatory disorders and Mendelian forms of neurological and neuropsychiatric diseases. Her most recent engagement is in the area of Ayurgenomics wherein individuals can be deep phenotyped based on the principles of Ayurveda to obtain homogeneous case-control cohorts to be used for disease gene mapping. This approach is expected to overcome the issue of clinical/phenotypic heterogeneity which is a major limitation in contemporary complex trait genetics research.
Her recent academic accomplishments include i) identification of novel risk genes/loci for two inflammatory conditions namely Rheumatoid arthritis & Ulcerative colitis by the first ever GWAS conducted in the genetically distinct north Indian population; ii) discovery of new causal genes namely MID2 for X-linked Intellectual Disability; PODXL and RIC3 genes for familial Parkinson’s disease by exome sequencing approach; and iii) demonstration of differences/similarities between the two major Indian subpopulations namely south and north Indians using both SNP array based and exome sequencing approaches. She has several national and international collaborative projects and has over 90 peer reviewed publications to her credit. She is a fellow of all the three science academies in India, has served as a member of the Scientific Advisory Council to the Prime Minister of India; National Science and Engineering Research Board and Human Genetics/Medical genomics task force of funding agencies including the Department of Biotechnology and Indian council of Medical research, Government of India.
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