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List of Faculty Abstracts
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Name
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Abstract Topic
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Prof. Evan Eichler
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Complete human genome sequencing and complex genetic variation
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Dr. Sayan Basu
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Corneal Regeneration: Stem Cells, Hydrogels, & 3-D printed corneas
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Dr. Madhulika Kabra
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Management of Rare diseases in India
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Dr. Vasanth Thamodaran
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A gene editing based pluripotent stem cell model for Pompe disease
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Dr. Neelu Desai
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Disease Modifying therapies in SMA
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Dr. Jayesh Sheth
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Traversing complex Genetic landscape of India: A journey of three decades
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Dr. Ricky Magner
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A blended exome and genome for scalable, low cost, and unbiased discovery through imputation and rare variant calling across the gene coding region
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Michael Gatzen
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A framework for evaluation of new or modified sequencing technologies for use in human genomics
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Megan Shand
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Mitochondrial variant calling in 56,000 individuals in gnomAD
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Prof. Sir John Burn
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From Genetics to Genomics: lessons from the DDD and 100,000 Genomes projects, UK Biobank and the National Disease Registration Service
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Dr. Vinod Scaria
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Personal Genomes to Populations and back - Learnings from India
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Prof. Alok Bhattacharya
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Exploring the possible mechanisms of pathogenesis in GNE Myopathy
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Prof. Stylianos Antonarkis
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The effect of human genetic variation on phenotypic variation
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Prof. Ken McElreavy
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Human Sex-Reversal as a paradigm to understand cell fate choice and gene regulatory mechanisms
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Dr. Deepak Modi
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Genetic Networks in Embryo Implantation
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Dr Anu Bashamboo
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3D organoid models in human reproductive biology
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Dr Manish Banker
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Maternal and Neonatal outcome following IVF in India
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Prof. Peining Li
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Structural and functional characterisation of human chromosomal abnormalities- A special emphasis on ring chromosomes
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Prof. Niels Tommerup
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Phenotypic 3D-organization of the human genome - inferred from the mapping of rare structural rearrangements
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Prof. Thomas Leihr
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Chromosomics Databases
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Prof. Joan Ramon Daban
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Multilayer organization of chromosomes and its implications in cytogenetics
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Prof. Pramod Mistry
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New clinical science of Gaucher disease, biomarkers, and therapeutic targets
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Prof. Atul Mehta
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Challenges in managing LSDs within a cost constrained system: A perspective from UK
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Dr. Ashok Vellodi
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Harnessing the Lysosome
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Dr. Sheela Nampoothiri
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Difficulties in the diagnosis and challenges for Fabry disease
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Prof. I.C. Verma
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Molecular Landscape of non-syndromic Oculocutaneous Albinism in India and its Therapeutic implications
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Dr. Sridhar Sivasubbu
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scar-6 lncRNA epigenetically regulates PROZ and modulates blood coagulation and vascular homeostasis
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Prof. Virginia Kimonis
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Effect of genotype on treatment of newborn with metabolic disorders
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Prof. Joris Veltman
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A de novo paradigm for sporadic genetic disease
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Prof. Sir John Burn
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Prevention of Cancer
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Prof. Matthias Kloor
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Development of frameshift peptide antigen based vaccine for cancer prevention in Lynch syndrome patients
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Dr. Harsh Sheth
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Deciphering genetic architecture of autism spectrum disorders in India using short and long read sequencing technologies
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Dr. Asima Mukhopadhyay
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Implementing nurse led genetic counselling and awareness (NUGENA) for hereditary women's cancer in India
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Dr. Ramesh Hariharan
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Germline CancerTesting: Experiences and Statistics
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Dr. K Thangraj
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Population Genomics and Public Health
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Dr. Uppsala Radhakrishna
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DNA Methylation Biomarkers and Therapeutic Targets for Neurological Disorders
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Dr. Harsh Sheth
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Lynch syndrome detection and coloretal cancer prevention in India
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Dr. Robin Ely
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N=1
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Dr. Priya Kishnani
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Pompe disease - An exemplar for diagnosis, treatment and prevention
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Prof. Meenakshi Bhat
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Challenges in ERT for treatment of LSDs in India
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Dr. Sanjay Maroo
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Sustainable role of pharmaceutical companies in orphan drug development and drug repurposing for rare genetic disorders in India
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Dr. Kathleen Strong
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Global burden of Birth Defects Estimation: Methods, progress and selected results
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Prof. Ajay Bahl
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Cardiomyopathies: genotype-phenotype correlation
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Dr. Maulin Shah
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Management of Congenital Birth Defects
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Dr. Radha Rama Devi
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The Socio-political implications of New- born screening programme in India
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Prof. Udai Bhan Pandey
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Interventional genomics in rare neurological diseases
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Dr. Raghu Padinjat
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Cellular mechanisms in human neurodevelopmental disorders
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Dr. Vedam Ramprasad
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Unravelling the genetics of young onset Parkinson disease
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Dr. Harsh Patel
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Treatable Neurometabolic Disorders
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Prof. Subramaniam Ganesh
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Neuronal Glycogen in Health and Disease: Lessons from Monogenic Disorders
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Dr. Vaidehi Jobanputra
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Genetic Frontiers: Navigating Rare Diseases through Genome Sequencing
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Ms. Riddhi Sheth Dash
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Diffusion of innovation in healthcare using Human centred design
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Mr. Shakti Dash
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Diffusion of innovation in healthcare using Human centred design
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Dr Seema Kapoor
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Workshop on Newborn Screening
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Professor Vidita Ashok Vaidya
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Monoamines, Mitochondria, Psychopathology and Aging
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Dr. Shrikant Mane
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Increasing diagnostic rate in rare diseases- lessons learnt and defining variants of unknown significance
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Mr. Saurabh Kr. Singh
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National Rare Disease Policy, its implication on healthcare delivery and research support in India
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Dr Sunil Bhat
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HSCT in Lysosomal Storage Disorders
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Dr. Giriraj Ratan Chandak
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Sickle Cell Anaemia: Kal, Aaj aur Kal
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Dr. Ajit Gandhi
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Consanguinity: a cause for burden of rare genetic disorders
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Dr. Siddharth Shah
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Results of exon skipping and other gene targeted therapies in Duchenne Muscular Dystrophy
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