Sep 22, 2012
@5:29 PM

Great quote from Ralph Greenspan

I (Gholson Lyon) had the honor of meeting Ralph Greenspan at a meeting recently. In reading some of his papers, I stumbled across (in this paper) this awesome quote concerning the work of Davenport at Cold Spring Harbor Laboratory:

“These studies suffered, however, from Davenport’s propensity to see Mendelian inheritance in every trait he looked at, from Huntingtons’s Disease to feeble-mindedness, which he claimed was recessive, but we now suspect to be environmentally induced by prolonged contact with academic researchers”.

Very hilarious, and very true. :)

Sep 13, 2012
@12:54 AM

Gholson Lyon gave a new talk today about the penetrance/expressivity in many neuropsychiatric disorders.

I (Gholson Lyon) am uploading some new slides from a talk that I presented today, minus some personal photographs of some families that are part of research studies and older slides already found in prior talks. The photographs of people are from published material from others, and I have tried my best to credit the sources as best as I can. Please forgive any omissions. I hope very much people will read over my talk and provide any feedback. There are many new slides here NOT in prior talks.

Clinical progress in autism genetics and treatment

Jul 31, 2012
@3:33 PM

Genetic Testing – for Consumers

I wrote the below in response to the 23andMe announcement:

http://spittoon.23andme.com/announcements/23andme-takes-first-step-toward-fda-clearance/

I am very concerned that the growth of substantial FDA bureaucracy will continue to choke off the movement toward individualized medicine, the quantified self, and the networking of science as applied to human health and medicine. It seems like there is a “race to the bottom” with any governmental institution or large bureaucracy, in terms of needing to “protect you from yourselves”. While I do agree that there needs to be a standard in place for genetic testing, I have felt that it is sufficient to require that all such testing be performed in CLIA-certified environments, at least in America. Obviously, we have to walk a fine line between outright quackery and useful genetic information provided to consumers, and I am afraid that 23andMe did not do themselves any favors in their earlier days with some of their common SNP “test results”. However, with the advent of CLIA-certified exome sequencing, many people can discover very useful genetic information about themselves, including rare variants that may increase risk of certain diseases substantially. I do not know what exactly 23andMe submitted to the FDA for clearance, so it is very hard to comment further on this, other than to ask whether we are going to ask the FDA for permission on each and every genetic variant of possible medical relevance that people want to somehow test for with exome sequencing? That seems completely unworkable.

See another worthwhile opinion here from Razib Khan: http://blogs.discovermagazine.com/gnxp/2012/07/23andme-and-the-fda-clearance/