Earlier this week, the Institute of Medicine (IOM) at the Academy of Natural Sciences announced the election of 65 new members from throughout the United States, in recognition of their major contributions to the advancement of the medical sciences, health care and public health. Among those elected were ASF founding board member Dr. Paul Offit and distinguished autism researcher, Dr. Daniel H Geschwind. Dr. Geschwind is the Gordon and Virginia MacDonald Distinguished Chair in Human Genetics and professor of neurology and psychiatry, department of neurology, University of California, Los Angeles. He has been involved in autism research for about 10 years and focuses on gene discovery and autism therapeutics. Last year Dr. Geschwind served as the program committee chair for the International Meeting for Autism Research.
ASF’s Jonathan Carter spoke to Dr. Geschwind about his election:
Jonathan Carter: Congratulations! How does it feel to be a member of the IOM?
Dr. Dan Geschwind: It’s very nice to get such an honor. In the end the greatest satisfaction is in the work and the deep satisfaction one attains from making scientific progress.
J: What will be your areas of focus? Can you tell us about the committees and boards that you plan to join?
G: The IOM is recognition of one’s contributions and an honor. But, because the IOM does work related to public policy and the future of medical care, election to the IOM also carries the expectation of involvement and service. The committees are done on a volunteer basis.
My participation will also be focused on neurologic and psychiatric disorders, especially neurodevelopmental disorders, and I will try to improve care and access and the quality of care for people with disorders. I would also like to get involved in the scientific issues surrounding genetics. For example, going forward in the future, possibly by next year, the cost of genomes may soon fall to $1,000. One can predict that as a clinical test, when you walk into the hospital or when you’re born, everybody will have their genome sequenced. That’s just the first step in an individual’s medical workup and personalized medicine.
Right now we can’t interpret most of the genome, but once we have large swaths of the population sequenced, we will be able to correlate genetic variation with various reactions to medicine, what therapy people should be on, especially for common diseases. And that’s an area where perhaps I can contribute as an IOM member; I know how to interpret genome data and its value – its scientific value, medical value and value for development of molecular biomarkers.
The IOM has working groups that get formed around specific issues, and I am also particularly interested in — as a doctor and a citizen — how expensive our healthcare is and how little in a relative sense our country gets for all it spends on health care. There are a lot of people with much stronger qualifications than I have in the area of health services delivery. And even though I can’t presume to have any formal expertise in that area, I definitely have an interest in it, as it represents one of the most important issues facing our society.
I assume that most of what is accomplished by the IOM is done in between the meetings, in subgroups. Having a body like the IOM where you can pull in 10 experts from a variety of disciplines to tackle important policy and scientific problems is wonderful. It’s an amazing advantage for our country to have what could be thought of as a virtual academy for problem solving.
J: What are the goals of the Geschwind Lab at UCLA?
G: There are short-term and long-term goals. There are short-term goals that have to do with gene discovery. We want to identify genes that cause and contribute to autism. We also want to understand what their mechanism is so that we can develop therapeutics. There’s enough genetic information out there now that we can start the process of developing therapy. So it’s a very exciting time.
Once you find genes, you have to figure out how they cause the disorder. Once you figure that out, you develop models for drug testing. We have been working a lot at the interface between the mechanism of the genes and how they might cause the disorder. Then, we create models that address how to develop more efficacious, hopefully, game changing drugs. So, the development of animal and cell culture models is paramount.
J: What can you tell us about the CNTNAP2 Gene?
G: What’s interesting about that gene, like several others, is that is it unlikely to be specific for autism, but certainly is a major player in ASD. Both common and rare variation in that gene increase risk for autism, so it has evidence from several different avenues that support its relevance to autism.
J: Your lab also does work on neurodegenerative diseases [like dementia]. How does that work relate to autism?
G: Working on both ends of the aging spectrum, it’s amazing how many commonalities we have found between early neurodevelopmental events and later neuro-degenerative disease. The work that we do in autism absolutely informs the work in dementia and vice versa. There are genomic and computational methods that apply to both of them and actually doing both of those things makes the laboratory a more fertile environment. It’s a wonderful opportunity to work on both neurodevelopmental and neurodegenerative disease and it makes us more effective.
Established in 1970 by the Academy of Natural Sciences, the IOM honors professional achievements in the health sciences and serves as a national resource for independent analysis and recommendations on issues related to medicine, biomedical sciences, and health. Current members of the Institute elect new members from a slate of candidates nominated for their professional achievement.