Scientists at the National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository at the Coriell Institute for Medical Research in Camden, N.J., are seeking blood samples from people with certain inherited neuromuscular diseases for use in research. I have been in contact with Tara Schmidlen, a genetic counselor for the project, who says that they do not yet have any samples from individuals with Dejerine-Sottas in their collection. Read on for more information if you’re interested in helping to fill in the gaps in their scientific knowledge. Continue reading Biobank Collecting Blood Samples for Neuromuscular Disease Research
Researchers at the University of Miami are investigating genetic factors that contribute to Charcot Marie Tooth disease. Any individual with a diagnosis of CMT and his/her selected family members can participate. Participation involves providing a small blood sample, a family Continue reading Genetic Factors Clinical Study
The National Institutes of Health announced recently a second phase of the Rare Diseases Clinical Research Network totaling $117 million which includes funds for 19 research consortia. Wayne State University received a five-year, $6.25 million research consortium grant from the Continue reading Dr. Michael Shy to lead $6.25 million NIH research program on Charcot Marie Tooth
It has been known for some time that certain types of Charcot-Marie-Tooth disorder (CMT) involve the muscles of the larynx (voice box), and there is reason to think that such problems may be more common than doctors have realized. The Continue reading Call for Patients to Complete a Questionnaire: Hereditary Neuropathy and Vocal Cord Problems
It has been known for some time that certain types of Charcot-Marie-Tooth disorder involve the muscles of the larynx (voicebox). There is reason to think that such problems may be more common than doctors have realized. The Hereditary Neuropathy Foundation Continue reading Call for Patients: Hereditary Neuropathy and Vocal Cord Problems
The January/February issue of Quest (from MDA) mentions the search for participants in the CMT Database. You can also contact Carly Siskind at (313) 577-5273 or firstname.lastname@example.org.
MDA’s web site is listing three clinical trials that people with Dejerine-Sottas are eligible for. Please note that these trials are not designed to test treatments for Dejerine-Sottas in particular; rather, the researchers are looking to determine the safety of Continue reading Clinical trials
The laboratory of Dr. Lisa Baumbach at the University of Miami has recently discovered a new DNA polymorphism in the pmp-22 gene in the CMT1A duplication region. The polymorphism appears to be specific to individuals of African American heritage and Continue reading Call for CMT or Dejerine-Sottas Patients