April 3, 2015
Researchers have identified a new genetic mutation at the heart of a severe and potentially deadly seizure disorder found in infants and young children. The finding, which was reported today in the American Journal of Human Genetics, may help scientists unravel the complex biological mechanism behind these diseases.
These findings allow us to open up what was, up to this point, a black box and more fully understand the biological pathways associated with these disorders and why some individuals do not respond to treatment,said Alex Paciorkowski, M.D., an assistant professor of Neurology at the University of Rochester Medical Center (URMC) and lead author of the study.
Once the mutation was identified, the researchers worked with neurobiologists in the lab of Marc Halterman, M.D., Ph.D. in the URMC Center for Neural Development and Disease, and were able to identify the downstream impact of the mutation, namely that it regulated another gene that has been associated with severe seizures called myocyte-specific enhancer factor 2C (MEF2C).
March 10, 2015
Congratulations to Nguyen Mai
Nguyen Mai, MD/PhD student
Congrats to Nguyen Mai, MD/PhD student, in Dr. Marc Halterman's lab for receiving an individual fellowship F30 from NIH's National Institute of Neurological Disorders and Stroke for her work on
Role of lung-brain coupling on neutrophil priming and reperfusion injury following global cerebral ischemia.
February 1, 2015
MSTP Announces 40th Anniversary Celebration!
The Medical Scientist Training Program (MSTP) is excited to announce a celebration of the 40th anniversary of the MSTP NIH training grant on Friday, October 9, 2015.
The keynote speaker will be an MSTP alumni from the Class of 1980: Edward Rubin, MD, PhD, Director, DOE Joint Genome Institute.
EddyRubin is an internationally-known geneticist and medical researcher at the Lawrence Berkeley National Laboratory in Berkeley, California, where he became head of the Genomic Sciences Division in 1998. In 2002 he assumed the directorship of the DOE Joint Genome Institute (JGI) to lead the JGI ’s involvement in the Human Genome Project (HGP).
For more information and schedule of events for the day, please visit the MSTP 40th Anniversary page.
- De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies.Am J Hum Genet. 96, 682-90. (2015 Apr 02).
- Provider impressions of the use of a mobile crowdsourcing app in medical practice.Health Informatics J. (2014 Aug 28).
- Crowdsourcing medical expertise in near real time.J Hosp Med. 9, 451-6. (2014 Jul 01).