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 VUS is disease causing or not.  Here are two 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

BostonChildren’s Hospital

Casie Genetti, Genetic Counselor

Ph: 617-919-2169

cgenetti@enders.tch.harvard.edu

National Institutes of Health

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

Your email address will not be published. Required fields are marked *

*