Today marks the 25th anniversary of Neil Risch and Kathleen Merikangas' classic 2-page paper that articulated GWAS as the future of human genetics. A short thread. www-leland.stanford.edu/~huatang/gene2…

‼️ At Geisinger we have several open positions for empirical researchers at the intersection of behavioral science & health: • Predoctoral fellow (starting ASAP) • Postdoctoral fellow (ASAP) • Faculty, open rank (flexible) Ads & application info: tinyurl.com/BehSciJobs

We are pleased to welcome Evan Eichler UW Genome Sciences to give Warren Distinguished Lecture in Human #genetics Nov. 30 cc Emory Genetics and Molecular Biology

Important point about returning clinically relevant results back to patients Eric Topol! For the Geisinger Research MyCode cohort you mention, we now have exome sequence on ~20% (>175K) of our entire patient population and have reported results to >5,000 patient-participants!

#Universal #germlinetesting successfully implemented in a rural hospital Outer Banks Health. (+) & (-) results guide clinical management... 12% of #breastcancer #patients had a de-escalation of surgery from unilateral radical mastectomy or BLM to breast conserving therapy (BCT) based on

"The U.S. FDA recently granted the first marketing authorization for a #cancer #genetictesting panel...the Invitae Common Hereditary #Cancers Panel..." "#Genetictesting is critical to find people who have mutations in order to decrease the morbidity and mortality of #cancer" -

✅ Despite the benefits of #genetictesting, adoption of #universal #genetictesting for these pts has been low (~30%) ✅ This study was designed to evaluate the efficacy of implementing same day #genetictesting station (GTS) on the proportion of #ovariancancer #patients tested

Our Interim CEO, Richard Scott spoke to Julia Vitarello and Dr Tim Yu about Mila's story and how they hope to help many more families access treatments for their children -- as they put it, from Mila to millions. Mila's Miracle Listen here: ow.ly/Ypeh50Qbrar

#Germline #genetictesting (GGT) in >7,000 consecutive #patients w/ #lungcancer >14% had PGVs, 63% in DDR genes e.g. #BRCA1 #BRCA2 #ATM #CHEK2, 95% clinically actionable "The results from this study and previous reports suggest it is reasonable for clinicians to now consider

I'm hiring! We are looking for a post-doc to work on an NIH Common Fund funded project exploring convergent mechanisms in neurodevelopment disease! jobs.bcm.edu/job/Houston-Po…

This is truly a miracle for people living with sickle cell. Unfortunately with a cost of over $2 million, it will be inaccessible for most. New technologies will continue exposing the financial and ethical faults in our health system. 🤷🏽‍♂️

Is the problem: The price of the treatments? Lack of adequate health coverage? The need for pre- approval? Our failure to acknowledge overall system cost (lifetime medical costs for a sickle cell patient are well over $2 million)? The answer is… Yes. 😞

“We have a cure for your debilitating and ultimately deadly disease… but you have to pay $2 million out of pocket, or your insurance company has to agree to pay for it.”

Total insanity. The system is simultaneously impressive and insane. It’s broken in its current form.

Miss learning from Sydney! Always a pleasure and (almost) always right!

Today is the day! Get your abstracts in for the Cephalopod Neuroscience Conference - we want to hear about all of the cool work that you are doing! Deadline: December 15 (today!) sites.google.com/view/cephneuro…

Sad or not, the right decision. But, boy, how did Harvard screw this up so badly?

Too bad for UCSC, but if there’s anyone to lead de-extinction while balancing cool science with ethical goals and public education, Beth Shapiro is the one!

This is terrible news. Jim has had such an impact in many fields, notably in supporting autism research thru the SFARI initiative, which is how so many of us met Jim and Marilyn. Deep condolences to his family and to all those at the Foundation, who will carry on.

Gave this to all my students. In the lab or in class.