C. elegans fer-1 is the ancestral homolog of human Dysferlin. Mutations in fer-1 are known to cause infertility in C. elegans. Since genetic modifiers of LGMD2B/MM are known to exist, it is possible that homologous modifiers may also exist in other organisms such as C. elegans. Based on this rationale, we performed a large-scale mutagenic screen and isolated a number of genetic suppressor mutants that restore fertility to C.
Phenotypic variation has been reported in patients with the same inherited muscle disease, even with identical gene mutations, inter- and intrafamilially.
The goal of this project is
(i) to investigate if there is a variability in onset, progression and symptoms in monozygotic and dizygotic twins with inherited muscle diseases, with primary focus on muscular dystrophies like dysferlinopathies.
Please fill out the form below to request travel to the 2015 Jain Foundation Dysferlin Conference.
Free travel guidelines:
- Your flight must arrive by 12:00pm, November 4th, 2015
- Your flight must leave no earlier than 2:00pm, November 7th, 2015
- You must fly coach
- Seat upgrades are not reimbursed
- Extra baggage costs are not included
Satellite cells, characterized by the transcription factor Pax7, are the proper stem cells of the adult skeletal muscle. They have an enormous capacity for self-renewal and superb potential for muscle regeneration. It has only recently been recognized that muscle regeneration cannot occur when satellite cells are absent. However, satellite cells are notoriously difficult to study due to their low abundance and their dispersed location in the specific stem-cell niche, the space between basal lamina and sarcolemma of skeletal muscle.
Researchers analyzed newspaper articles on stem cells from 2010-2013 and found almost 70% of the articles reported that treatments would be available in 5-10 years or earlier, but these timelines are unsupported by scientific research. These inaccurate timelines give false hope and can lead patients to seek out unproven stem cell therapies.
November 4-7, 2015 - Jain Foundation Scientific Conference in Toronto, Canada
The Jain Foundation Conference hosts a conference specifically on dysferlinopathy.
Jain Foundation Attendees: All Jain Foundation staff
For more information, visit our website here.
September 30 - October 4, 2015 - WMS in Brighton, United Kingdom
The International Congress of the World Muscle Society is an annual international Congress on neuromuscular disorders.
Jain Foundation Attendees: Elaine Lee
For more information, visit their website here.