Research pioneer Tom Maniatis discusses advances
The Alabama chapter of the ALS Association and HudsonAlpha recently presented an ALS workshop featuring Dr. Tom Maniatis, professor and chair of biochemistry and molecular biophysics at Columbia University. Maniatis, together with other presenters including Dr. Rick Myers, HudsonAlpha president and director, offered insight to exciting advances in both the search for causes, as well as a cure for the devastating disorder.
Amyotrophic lateral sclerosis is a complex and currently incurable neuromuscular disease. Very few of the cases run in families; most cases of ALS are sporadic and are believed to result from a yet-unknown combination of genetic and environmental factors. Progress in genomic sequencing techniques, including those employed at HudsonAlpha, can be key to increased understanding.
Dr. Kevin Bowling, postdoctoral fellow in the Myers lab at HudsonAlpha, was among workshop participants. “Although a handful of genes have been shown to be mutated in ALS, mutations in these genes account for just up to 10 percent of all ALS cases,” said Bowling. “Much more research is needed to identify causes underlying the remaining 90 percent of ALS cases. This was a point of major discussion at the workshop.”
Discussions highlighted the likelihood that ALS susceptibility genes exist and mutations within one or a combination of these genes precipitates the disease. “With the advent of next generation sequencing and bioinformatic tools, it is now possible for us to look for DNA variants across the whole genome in order to identify genetic aberrations that associate with ALS,” said Bowling.
Bowling anticipates that next generation sequencing will aid in the identification of genetic factors contributing to the 90 percent of unexplained ALS cases. “It is also our hope that newer sequencing technologies will help us to discover ALS molecular pathology induced by environmental insult.”
Other presenters at the workshop held June 30 include :
Lucie Bruijn – chief scientist, The ALS Association
Jane Gilbert – president/CEO, The ALS Association
Stuart Obermann – board president, The ALS Association – Alabama Chapter
Dr. Kim Caldwell – professor, University of Alabama
Dr. Guy Caldwell – professor, University of Alabama
Dr. Peter King – professor, University of Alabama at Birmingham