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MANIPAL GENETICS UPDATE VII Cellular and Animal Models for Rare Genetic Diseases January 18-20, 2024 Center for Rare Disease Diagnosis, Research, and Training |
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Last date for early-bird registration: October 31, 2023 Register online |
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Last date to submit your abstract: October 15, 2023 Submit abstract |
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Scientific Program |
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Dr. Stephanie Bielas University of Michigan, USA |
Modeling primary microcephaly with human brain organoids reveal fundamental roles of CIT kinase activity |
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Dr. Anirban Chakraborty NITTE University, India |
Intriguing ribosomopathies: What have we learned from zebrafish |
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Dr. Debdeep Dutta Baylor College of Medicine, USA |
Solving medical mysteries with fruit flies: the role of mitochondria in rare pediatric neurodegeneration |
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Prof. Florian Eichler Massachusetts General Hospital, USA |
To be decided |
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Dr. Frederike Leonie Harms Institute of Human Genetics, Germany |
Patient-derived primary fibroblasts to study the pathophysiology of rare monogenic diseases: Possibilities and what we have learned |
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Dr. Tess Holling Institute of Human Genetics, Germany |
In silico, in vitro, and in vivo: combining multiple approaches to study candidate genes for monogenic disorders |
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Dr. Manish Jaiswal TIFR, India |
Human-fly collaborative pipeline for diagnosis of rare genetic diseases in India |
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Prof. Cecilia Lo University of Pittsburgh, USA |
To be decided |
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Dr. May Christine Malicdan National Institute of Health, USA |
To be decided |
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Dr. Ravi Manjithaya JNCASR, India |
Investigating vesicular trafficking pathways in Griscelli syndrome |
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Dr. Heather C. Mefford St. Jude Children's Research Hospital, USA |
To be decided |
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Dr. Bhavana Muralidharan InStem, India |
Probing the mechanisms of chromatinopathies in brain development using a human in vitro disease model |
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Prof. William Newman University of Manchester, UK |
Perrault syndrome: still more to discover? |
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Dr. Quasar S. Padiath University of Pittsburgh, USA |
Mechanisms underlying autosomal dominant leukodystrophy: Lessons from cell culture and models |
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Dr. Akhilesh Pandey Mayo Clinic, USA |
Mass spectrometry in investigation of genetic disorders |
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Dr. Udai Bhan Pandey University of Pittsburgh, USA |
Molecular genetic analysis of a rare neurodevelopmental syndrome |
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Prof. Shubha Rao Phadke SGPIMS, India |
Rare disease research in India |
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Dr. Dhandapany Perunduri InStem, India |
Functional genomics of pediatric heart disease: Hypertrophic cardiomyopathy |
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Dr. Asuri N Prasad Western University, Canada |
Inherited genetic-metabolic defects and epilepsy: Interfacing genes and biochemical pathways |
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Dr. Shaji R V Christian Medical College, India |
Modeling of rare hematological diseases using iPSCs |
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Dr. Girish Ratnaparkhi IISER, India |
The VAPB social network in ALS: A versatile influencer at ER-membrane contact sites |
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Dr. Achira Roy JNCASR, India |
Modeling a spectrum of early-onset human developmental brain disorders: timing, mechanism, and therapy |
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Dr. Aarti Sevilimedu DRILS, India |
Bi-allelic variants in CCN2 cause a novel skeletal dysplasia |
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Dr. Anshika Srivastava SGPIMS, India |
Bi-allelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations |
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Dr. David Arthur Stroud University of Melbourne, Australia |
Ultra-rapid functional genomics for the diagnosis of mitochondrial disorders |
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Prof. Robert Taylor Newcastle University, UK |
Advances in the molecular diagnosis of mitochondrial genetic disease |
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Dr. Priyanka Upadhyai KMC, Manipal |
Skeletal ciliopathies: Old and new player |
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Dr. Gaurav Varshney OMRF, USA |
Optimized CRISPR tools for high-throughput functional genomics using zebrafish as a model |
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Dr. Michael Francis Wangler Baylor College of Medicine, USA |
Model organism screening in undiagnosed disease |
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Panel discussion: Rare disease research in India: The way forward Dr Ashwin Dalal (Moderator) Panelists: Prof. Shubha Phadke, Prof. Rakesh Kumar Mishra, Dr. Michael Wangler, Prof. William Newman |
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For more information, visit us at https://conference.manipal.edu/MGU7/ |
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Warm regards
Dr. Anju Shukla (Chairperson)
Dr. Radhakrishnan P (Organizing Secretary)
Dr. Rama Rao Damerla (Organizing Secretary)
Manipal Genetics Update VII
Department of Medical Genetics
Kasturba Medical College, Manipal- 576104
Karnataka, India
Email: manipalg...@manipal.edu; Telephone: 0820-2922836
If you have any queries, please feel free to contact Dr. Radhakrishnan P, Assistant Professor- p.radha...@manipal.edu; +91 9003502218
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