A second notable FSH research project also was identified as a result of the joint RFA distributed by MDA and Friends of FSH Research. That meritorious project, being led by Dr. Silvere van der Maarel at Leiden University Medical Center in the Netherlands, is being funded by MDA and will use a slightly different approach (antisense oligonucleotides) to develop potential treatments for FSH dystrophy.

Leveraging Prior Insights The exciting new initiatives will benefit from decades of FSH dystrophy research seeking the elusive genetic cause of FSH dystrophy and defining the varied course of the disease. Notable advances made by investigators benefiting from MDA's more than $16 million investment in FSH dystrophy research since 1987 include: mapping the genetic mutation causing FSH dystrophy to a small region near one end of chromosome 4; determining that many genes are incorrectly regulated in FSH dystrophy-affected muscle; finding that abnormal DNA in the disease-associated region of chromosome 4 inappropriately activates gene expression in FSH dystrophy: and discovering that an unusual looping of chromosome 4, marked by an abnormally short D4Z4 region, has widespread consequences for gene regulation in FSH dystrophy.

Source MDA, Friends of FSH Research