Funded Diagnostic Projects
At the Jain Foundation, we believe that identifying patients across the world who have Miyoshi/LGMD2B is a critical component of our efforts toward a cure for this disease. Outlined below are the reasons why our efforts are worldwide and why our focus is on diagnosis at the level of genetic mutations.
- Miyoshi/LGMD2B is a disease that does not differentiate between ethnicities or countries. It is a very rare disorder and therefore, every new patient helps us learn a little more about the disease. Most importantly, every patient gives us one more reason to find a therapy or cure.
- There are many different kinds of LGMD and therefore, diagnosis of this disease is complete only after two mutations are found in the two alleles of the dysferlin gene carried by each patient. Since genetic diagnosis is a fairly new procedure in the medical community, this type of analysis is often not performed or not available to most of the patients suffering from this disease.
- Many therapies currently in development target specific mutations in the dysferlin gene. To take advantage of these treatments in the future, patients will need to know their specific genetic mutations. Moreover, patients will need to know and provide this information in order to participate in clinical trials to test these treatments.
Our global diagnostic efforts are shown on the map below. Please follow the links below for more information on specific diagnostic projects we are funding:
Madhuri Hegde, PhD, Emory Genetics Laboratory (Atlanta, GA)
- Dysferlin Mutational Analysis for US Patients
- Analysis of Dysferlin Protein Levels in Blood Monocytes
Rashna Dastur, PhD, Therapeutic Drug Monitoring (TDM) Laboratory (Mumbai, India)