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

Samya Chakravorty, PhD

Emory University

Dr. Chakravorty is a principal investigator in the Department of Pediatrics and Human Genetics at Emory University (Atlanta, GA).

Clinical Projects

Objective: 
To enhance molecular diagnostics of dysferlinopathy and stratify patient samples based on genotype-phenotype correlation for better clinical trial readiness.

Dr. Samya Chakravorty 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 was expanded in 2017 to include targeted next-generation sequencing (NGS)-based transcriptome sequencing (RNA-Seq) using whole blood in order to clarify functional effects of identified DYSF variants, classify the pathogenicity of DYSF variants that are labelled as variants of uncertain significance (VUSs) and identify novel gene variants (e.g. deep intronic variants that affect splicing, deletions and duplication). Dr. Chakravorty is using a combinatorial approach of including data from clinical features, monocyte assay-derived protein expression, and RNA-Seq to enhance molecular diagnostics of dysferlinopathy and stratify patient samples based on genotype-phenotype correlation for better clinical trial readiness.

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