Participant 2

Hello, my name is Kathy and I have LGMD and I’m sure if you are reading this you most likely have some form of Muscular Dystrophy (MD) and know that you are not alone. 

 

Myostatin

Myostatin is a protein in muscle cells that controls muscle growth. Reducing myostatin causes the growth of pre-existing muscle cells, enlarging the muscle fibers. When myostatin is reduced in healthy animals, muscles grow significantly larger.

An International Clinical Outcome Study for Dysferlinopathy (LGMD2B/Miyoshi)

Objective: 
Characterize the symptoms, progression, and tools for clinical evaluation of dysferlinopathy

As a prerequisite for future human clinical trials of treatments for dysferlinopathy, it is necessary to better dysferlinopathies in the absence of treatment. This will provide a baseline for future studies, as well as assist in the clinical design of future trials. In particular, it will help define how many patients will be needed to participate in trials, what duration of the trial will be necessary to observe an effect of treatment, and which clinical evaluations are most informative as to a patient's condition.

Clinical

Development and Maintenance of the UMD-DYSF Locus-Specific Database

Objective: 
Develop a database of identified pathogenic dysferlin mutations and tools for the analysis of novel variants

This project is dedicated to the maintenance and further development of the UMD-DYSF Locus-Specific Database, including molecular data updating and development of novel interactive tools and further development of the database as a tool for collection of data from the Natural History study of dysferlinopathy.

Click here to access this database.

Past

Assessment of prevalence of Limb Girdle Muscular dystrophy

Objective: 
To perform exome sequencing analysis on 100 LGMD patients to provide molecular diagnosis, estimate disease prevalence and identify potential new genes causative of or associated with LGMD phenotype.

Limb-girdle muscular dystrophies (LGMDs) have highly overlapping phenotype and are associated with a number of causative genes. Clinical diagnosis of the disease sub-type is often difficult and molecular diagnosis is expensive given the genetic heterogeneity. Therefore, patients do not receive complete diagnosis.

Past

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

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.  

Clinical

Pages