Monocyte assay and targeted transcriptome sequencing as a functional tool for dysferlin detection and dysferlinopathy molecular diagnosis

Madhuri Hegde, PhD

Emory Genetics Laboratory (Atlanta, GA)

Dr. Hegde is the Lab Scientific Director of the Emory Genetics lab, Sr. Director of the Clinical Molecular Genetics lab, and an associate professor in the Department of Human Genetics at Emory University (Atlanta, GA).

Past Projects

Clinical Projects

Objective: 
Dr. Madhuri Hegde has been doing a long standing project to use a monocyte assay for detection of dysferlin protein levels in the blood to help clarify the functional effects of DYSF variants and help support a diagnosis of dysferlinopathy. The project has recently been expanded to include transcriptome sequencing in order to clarify functional effects, classify DYSF variants that are labelled as variants of uncertain significance (VOUS) and identify novel gene variants (e.g. deep intronic variants that affect splicing).

To get more information about this assay and to determine if you or your patient is eligible for sponsorship for the assays performed in this project please email the Jain Foundation at patients@jain-foundation.org.