Minutes from 13th February, 2013
Are GWAS studies useful? With Apologies to David Nathan
Date:
13th February, 2013
Speaker:
Prof. Stuart H. Orkin, Boston Children’s Hospital and Dana Farber Cancer Institute. Howard Hughes Medical Institute/ Harvard Stem Cell Institute
Members Present:
Barbara Gilchrest
Joe Majzoub
Stuart Orkin
Thoru Pederson
John Potts
Mark Poznansky
Robert Sackstein
Edward Scolnick
Cocktails:
Pool was played per British rules – Barbara Gilchrest and Robert Sackstein played Mark Poznansky and Stuart Orkin to a draw. Barbara eventually found her form but the game was terminated prematurely because of the need to commence the dinner and talk.
Seminar:
Stuart Orkin gave what everyone present agreed was an elegant, concise and definitive presentation on the impact of Genome-Wide Association Study (GWAS) technology on our understanding on the control of fetal hemoglobin (HbF) expression and the pathogenesis of sickle cell disease. Stuart noted that MEC member David Nathan has been a critic of GWAS studies and his absence this evening was noted with regret. Stuart’s work beautifully illuminated the utility of GWAS in the identification of a new potential therapeutic target. Lively discussion occurred throughout the talk focused on a multitude of follow up points including why GWAS may be relevant to some but not all disease states and might best be used when there is a deep understanding of the pathophysiology of the disease. A clear understanding of the role of the B-cell CLL/lymphoma 11A (zinc finger protein)(BCL11A) enhancer was gained and the availability of new genetic engineering technologies like Transcription Activator-Like Effector Nucleases (TALEN) and silencing RNAs to therapeutically intervene to correct a genetic defect was raised.
Post Seminar Discussion:
Amongst other things, there was a discussion of the small molecule screening for BCL11A inhibition and the relevance of hypothesis led science in age of high-throughput screening technologies like GWAS.