Current Grant
02/23 – 01/24

Phase 3: Registration of genetically confirmed dysferlinopathy patients in the Dysferlin Registry. Continue to process potential dysferlinopathy patients using the following process:

  1. Patients referred by neurologist
  2. Patients contacting CAMDND or Jain Foundation (JF) directly
  3. Previously registered patients
  4. JF approval for subsidized testing for selective patients
  5. Webinars/virtual networking with registered dysferlin patients
  6. Blood smear project
  7. Immunoassay for detection of dysferlin in neutrophils

Processed & screened over 600 probable LGMD patients from India from diagnosis to registry & registered over 200 Indian patients in the Dysferlin Registry so far.

Project Results
Project Results

Previous Grant Period

02/22 – 01/23

  • New patients processed from diagnosis to registry. Total of 140 potential LGMD2B patients processed.
  • 25 genetically confirmed patients were entered into the registry.
  • Registered patients were guided to access Dysferlin Registry.
  • Jain Foundation reference guide and international brochure sent to all registered patients.
  • Subsidized testing offered to patients.
  • Dysferlin Registry applications of patients from India processed.

Previous Grant Period

01/15 – 01/22

Phase 1 – Blood-based screening for defective dysferlin protein expression by immunoblot analysis using whole peripheral blood mononuclear cells (PBMCs).

Phase 2 – Detection of dysferlin gene mutations by sequencing in the cases confirmed as dysferlinopathy on monocyte assay & registration of genetically confirmed LGMD2B patients in the Dysferlin Registry. 

Phase 3: Ongoing registration of genetically confirmed LGMD2B patients in the Dysferlin Registry.  

  • Carried out monocyte assay / western blot on more than 160 suspected Limb Girdle Muscular Dystrophy patients to detect dysferlin protein expression.
  • Carried out sequencing & later NGS for more than 100 patients who showed absence of protein free of cost .
  • India Patient Conference organized in Gurgaon (Delhi) May, 2015.
  • Two poster presentations of the NGS data of 100 patients at the 7th Jain Foundation Scientific conference, Canada, November, 2015.
  • Standardization of intron 50 sequencing carried out on 52 samples.
  • Paper published in AIAN (Sept, 2017) – Detection of dysferlin gene pathogenic variants in the Indian population in patients predicted to have a dysferlinopathy using a blood based monocyte assay and clinical algorithm: A model for accurate and cost effective diagnosis.
  • More than 200 patients from India confirmed to be LGMD2B using NGS (both JF funded and self-paying patients) were registered.
  • Informed doctors & patients about subsidized testing available for probable LGMD2B patients through Jain Foundation.
  • JF India Patient Meeting was organized in Mumbai November, 2019. Officiated by Sarah Emmons. 75 total attendees. Blood smear slides of 15 patients were prepared at the venue.
  • Poster presentation titled ‘Impact of evolution of molecular technologies on evaluation and delimitation of neuromuscular disorders: A study in western India’ was done at Asia Oceanic Myology Centre, Mumbai in June, 2019.
  • ALDA tool run on more than 100 patients.
  • Blood smear project: Initiated in Sept, 2019, in order to standardize a low cost and effective dysferlin protein testing method. Total of 31 LGMD patients, 4 Carrier’s and 20 controls blood smear slides have been prepared as of Jan, 2020.
  • Dysferlin Registry reference guide and international brochure sent to all registered patients.
  • Webinar conducted April, 2021, titled ‘Accessing Dysferlin Registry-a Webinar’.
  • Webinar conducted August, 2021, titled ‘Genetics & Inheritance of Dysferlinopathy’.