To develop new therapies for patients living with myotonic dystrophy (DM), specific “infrastructure” needs must be addressed—this infrastructure makes clinical trials feasible. It is essential to understand how a disease manifests and progresses in a cohort of patients that is sufficiently large and representative to provide confidence in the findings. This understanding, in turn, allows the design and validation of outcome measures that are sufficiently sensitive, reliable, valid and responsive to show whether a candidate therapy is effective or not.
Care Tools Articles
A new study points to the timing of MBNL-dependent RNA processing defects as a major factor in the pathogenesis of CDM.
Epigenetic modifications upstream of an expanded DMPK allele may underlie the maternal bias in the inheritance of CDM.
Dr. Dixon at the University of Utah has been awarded a 2016-2017 postdoctoral fellowship for her research applying fMRI to evaluate connectivity networks in the brains of children with congenital-onset myotonic dystrophy (CDM). Read more here about the work of Dr. Dixon and her colleagues.
Steven and Kelly Bormann are kicking off the new year with their 2nd Annual Poker and Paint Party February 20th in Lenexa, Kansas to raise DM awareness and funds in honor of their late daughter, Anna. To join the Paint and Poker Party fun in person, please click here.
Join the Myotonic Dystrophy Family Registry; you could win an iPad!
New research on the impact of the mother's age on congenitally affected offspring.
To support our commitment to DM research, MDF awards fellowship grants to postdoctoral researchers as part of our annual Fund-A-Fellow (FAF) program. We recently caught up with one of our current grant recipients, Dr. Nicholas Johnson, Assistant Professor of Neurology at the University of Utah.
Nicholas Johnson, MD, and researchers at the University of Rochester recently published an article in The Journal of Child Neurology that describes the impact of childhood and congenital myotonic dystrophy on quality of life.