Titin Myopathy

All about Titin Protein, Titin Myopathy, Titinopathy, Titinopathies

Titin Myopathy - All about Titin Protein, Titin Myopathy, Titinopathy, Titinopathies

Research

Enroll in Research

Some researchers can help answer whether a Titin gene mutation/variant (VUS) is causing disease or not.

Here are a few researchers working on Titin that you can contact:


Study title: “Functional Resolution of Multi-loci Pathogenic Variants and VUSs in Pompe Disease ” (Opened 2018) Click here for more information on the VUS research at Emory.

Dr. Samya Chakravorty, BS (Engr.), PhD
Postdoctoral Research Fellow
Department of Human Genetics
School of Medicine|Emory University
Room 335 Whitehead Biomedical Research Building
615 Michael Street NE, Atlanta, GA 30322
Office Phone: 404-727-1197
Departmental Fax: 404-727-3949
Email: samya.chakravorty@emory.edu


Beggs Laboratory
Boston Children’s Hospital
Casie Genetti, Genetic Counselor
Ph: 617-919-2169
cgenetti@enders.tch.harvard.edu


National Institutes of Health (NIH)
National Institute of Neurological Disorders and Stroke, Neurogenetics Branch
Neuromuscular and Neurogenetic Disorders of Childhood Section
Sandra Donkervoort, MS,CGC
Genetic Counselor
Ph: 301-496-0272
donkervoorts@mail.nih.gov


 

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