American Society of Human Genetics Annual Meeting

Have you ever wondered what goes on at those huge genetic conferences? What happens when you get thousands of genetics nerds together in one conference center? Luckily, Dr. Cody, president of the Registry and director of the Research Center, has the answer! Earlier this month, she attended the American Society of Human Genetics Annual Meeting in Washington DC. Here's her first-hand summary of the conference!

A few weeks ago, I attended the American Society of Human Genetics (ASHG) Annual Meeting in Washington, DC. This is the main scientific meeting for all aspects of human genetics, including the latest in genetic research, clinical genetics and genetics education. I arrived a day early to do some additional business. I met with the Positive Exposure crew to discuss program planning. Our crew included Rick Guidotti (of course), Denise Parker and Liz Grossman. I’ll bet you did not appreciate the chromosome 18 friends were also very involved with Positive Exposure! Every year, ASHG holds a High School Educational Workshop in the city hosting the annual conference. Rick Guidotti has become a regular speaker at the event, and this year was no different! I am certain that Rick’s presentation surprises the students into seeing people in a whole new light and helps them see the humanity and beauty in everyone.

I also met with Victoria Miller (with the Trisomy 18 Foundation) and Dr. John Carey (Medical Advisor to the Support Organization for Trisomy 18 and 13, or SOFT) to discuss Trisomy 18 research strategies. We discussed the priorities for Trisomy 18 research as well as strategies for building a research coalition and raising the necessary funding.

After these two major strategy meetings, the conference finally began! I won’t bore you with the latest advances on copy number variation, exome sequencing for finding new disease genes, or massively parallel sequencing technology. Learning about the latest and greated in genetic technology is the official reason that everyone goes to this meeting. But real reason for attending is to see old friends who share the same type of insanity: a love of genetics and an unquenchable desire to figure out how it all works – even in the face of diminishing funding. Many of my old friends are, like myself, former Genetic Alliance board members. For example, I had the chance to catch up with Donna Appell (President of the Hermansky-Pudlak group), Wendy Uhlman and Ann Smith who are genetic counselors, Mary Ann Wilson (NF Inc.) and Vivian Ota Wong (now at NIH). It is always exciting to hear about the new paths their lives are taking. It is hard to believe that I have been attending this meeting for 20 years and still seeing some people I met at my very first meeting, like Steve Groft from the NIH Office of Rare Diseases and Karen Ball President of the Sturge-Weber Foundation. Many of you know our long time Program Officer from the NIH, Mary Lou Oster-Granite. She was able to attend this year because the meeting was in DC. It is always good to touch base with her. With funding from NIH getting harder and harder to get, an encouraging word from her always keeps me from feeling too downtrodden and inept.

Every year, several thousand scientists present their research in a talk or a poster at the conference. There usually aren’t many people researching the chromosome 18 conditions, and this year was no different. There were only 3 of the more than 3000 posters or talks that were directly relevant to the chromosome 18 conditions. Again I was disappointed. One was about Tetrasomy 18p being a survivable condition based on a single patient – duh! The other two promised new insights into genes on chromosome 18. However, when I talked to each of the presenters, they each had major flaws in their data and incomplete literature reviews making their conclusions erroneous. So, I did not come away with much new information that was specific to our conditions. However, I did learn a lot about the latest technologies and came away with new ideas for experiments and grants.

All in all, it was a great conference, and I am looking forward to using my new connections, knowledge, and ideas to further our understanding of chromosome 18 conditions!