Fw: Scientific program is updated for MANIPAL GENETICS UPDATE VII: Register soon !!!

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Dr. Prashanth N Suravajhala

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Oct 5, 2023, 6:27:24 AM10/5/23
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From: Manipal Genetics Update VII [MAHE-KMC] <manipalg...@manipal.edu>
Sent: Thursday, October 5, 2023 2:11 PM
To: Manipal Genetics Update VII [MAHE-KMC] <manipalg...@manipal.edu>
Subject: Scientific program is updated for MANIPAL GENETICS UPDATE VII: Register soon !!!
 

MANIPAL GENETICS UPDATE VII 

Cellular and Animal Models for Rare Genetic Diseases 

January 18-20, 2024
Department of Medical Genetics, Kasturba Medical College, Manipal  

Center for Rare Disease Diagnosis, Research, and Training 

 

Last date for early-bird registration: October 31, 2023 Register online 

Last date to submit your abstract: October 15, 2023 Submit abstract 

Scientific Program

Dr. Stephanie Bielas  

University of Michigan, USA 

Modeling primary microcephaly with human brain organoids reveal fundamental roles of CIT kinase activity 

Dr. Anirban Chakraborty 

NITTE University, India 

Intriguing ribosomopathies: What have we learned from zebrafish 

Dr. Debdeep Dutta 

Baylor College of Medicine, USA 

Solving medical mysteries with fruit flies: the role of mitochondria in rare pediatric neurodegeneration 

Prof. Florian Eichler 

Massachusetts General Hospital, USA 

To be decided 

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 

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 

Dr. Manish Jaiswal 

TIFR, India 

Human-fly collaborative pipeline for diagnosis of rare genetic diseases in India 

Prof. Cecilia Lo  

University of Pittsburgh, USA 

To be decided 

Dr. May Christine Malicdan 

National Institute of Health, USA 

To be decided 

Dr. Ravi Manjithaya 

JNCASR, India 

Investigating vesicular trafficking pathways in Griscelli syndrome 

Dr. Heather C. Mefford 

St. Jude Children's Research Hospital, USA 

To be decided 

Dr. Bhavana Muralidharan 

InStem, India 

Probing the mechanisms of chromatinopathies in brain development using a human in vitro disease model 

Prof. William Newman 

University of Manchester, UK 

Perrault syndrome: still more to discover? 

Dr. Quasar S. Padiath 

University of Pittsburgh, USA 

Mechanisms underlying autosomal dominant leukodystrophy: Lessons from cell culture and models 

Dr. Akhilesh Pandey 

Mayo Clinic, USA

Mass spectrometry in investigation of genetic disorders

Dr. Udai Bhan Pandey 

University of Pittsburgh, USA 

Molecular genetic analysis of a rare neurodevelopmental syndrome 

Prof. Shubha Rao Phadke 

SGPIMS, India 

Rare disease research in India 

Dr. Dhandapany Perunduri 

InStem, India 

Functional genomics of pediatric heart disease: Hypertrophic cardiomyopathy 

Dr. Asuri N Prasad 

Western University, Canada 

Inherited genetic-metabolic defects and epilepsy: Interfacing genes and biochemical pathways 

Dr. Shaji R V 

Christian Medical College, India 

Modeling of rare hematological diseases using iPSCs 

Dr. Girish Ratnaparkhi 

IISER, India 

The VAPB social network in ALS: A versatile influencer at ER-membrane contact sites 

Dr. Achira Roy 

JNCASR, India 

Modeling a spectrum of early-onset human developmental brain disorders: timing, mechanism, and therapy 

Dr. Aarti Sevilimedu 

DRILS, India 

Bi-allelic variants in CCN2 cause a novel skeletal dysplasia 

Dr. Anshika Srivastava 

SGPIMS, India 

Bi-allelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations 

Dr. David Arthur Stroud 

University of Melbourne, Australia 

Ultra-rapid functional genomics for the diagnosis of mitochondrial disorders 

Prof. Robert Taylor 

Newcastle University, UK 

Advances in the molecular diagnosis of mitochondrial genetic disease 

Dr. Priyanka Upadhyai 

KMC, Manipal 

Skeletal ciliopathies: Old and new player 

Dr. Gaurav Varshney 

OMRF, USA 

Optimized CRISPR tools for high-throughput functional genomics using zebrafish as a model 

Dr. Michael Francis Wangler 

Baylor College of Medicine, USA 

Model organism screening in undiagnosed disease 

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 

For more information, visit us at https://conference.manipal.edu/MGU7/



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



Prashanth N Suravajhala, Ph.D.
Associate Professor/Principal Scientist, Systems Genomics
Room # 301, Amrita School of Biotechnology
Amrita University, Amritapuri, Kerala 690525, India. 
Twitter: @prashbio

"Each problem that I solved became a rule, which served afterwards to solve other problems."    Rene Descartes




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