Minutes from September 11th 2013
Medical Exchange Club meeting
Date:
11th September, 2013
Location:
St. Botolph Club, Boston
Speaker:
Elizabeth Engle MD
Professor of Neurology and Ophthalmology
Howard Hughes Medical Institute Investigator
Harvard Medical School
Childrens Hospital, Boston
Members Present:
Aram Chobanian
Barbara Gilchrest
Joseph Majzoub
Joe Martin
David Nathan
Thoru Pederson
Mark Poznansky
Nick Zervas
Cocktails:
Conversations prior to dinner included the recollection of exciting and enjoyable summer experiences. All attendees appeared to have had fun, kept healthy and interrupted the fun with work on occasion over the “vacation”. Elizabeth Engle discussed the challenges of supporting discovery research in the new NIH funding environment and the impact that this has had for both established and new investigators.
Seminar:
Elizabeth gave a wonderfully clear presentation of her discovery work on the genetic and mechanistic basis of developmental abnormalities affecting the cranial nerves controlling extraocular eye movements. She explained how she moved from genetic to mechanistic findings to identify specific abnormalities in protein function in conditions such as congenital fibrosis of the extraocular muscles, now known to be misnamed given Elizabeth’s compelling evidence that the problem is in fact neuronal, and Mőbius syndrome. In extremely elegant and visually fascinating assay systems her team was able to identify several disease genes including KIF21A and TUB3 that altered axon growth and guidance. Elizabeth presented work on how the KIF21A protein interfaces with microtubule-based transport and how TUB3 impacts microtubule dynamics and the neuronal paths of specific cranial nerves involved in ocular movement. Questions during the talk revolved around how mutations involved in eye movement might impact neuromuscular function beyond the eye.
Post Seminar Discussion:
Elizabeth’s presentation stimulated a broad brush discussion of the impact of genetic abnormalities associated with neuromuscular dysfunction. The participants left the meeting at 8.15PM following this wonderful presentation of definitive scientific work and a strong vote of thanks to Joe and Barbara for inviting Dr. Engle, and a kudos to her from all.
Respectfully submitted, Mark Poznansky, Scribe