Falsehood flies, and the Truth comes limping after it…or, in my less elegant phrasing, funders should pay for and journals should publish replication studies. A new replication crisis: Research that is less likely to be true is cited more - SCIENMAG apple.news/APm1O6wF2QV6Q3…

Congrats to VA Researcher & Veteran Dr. Stephen Plymate, who got a well-deserved shout-out from the House of Representatives for his work on prostate cancer! Woohoo!

Best defense here is a strong offense. We need to put patients/consumers in full control of their data: See the Guardian Angel Manifesto of 1994 groups.csail.mit.edu/medg/projects/…

Now online in OrphanetJournal at BMC: Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network pubmed.ncbi.nlm.nih.gov/33971915/

One more mark against heavily touted synthetic EHR data sets: When they hit real world questions (e.g. myocarditis after vaccine) they are brittle/not helpful because the engineering did not capture joint probabilities of these rare events.

Submit your abstract for SAIL 2021 by June 25! Help us foster collaboration between methodologists and key healthcare decision makers in the development of clinical AI systems. #machinelearning #clinicalinformatics #computationalmedicine

New participant page: 1-year-old w/ leukodystrophy, developmental delay, abnormal brain electrical activity, optic atrophy, esotropia, & variants in the PTER gene. Contact us if you know others w/ similar symptoms & variants in this gene! undiagnosed.hms.harvard.edu/participants/p…

Participant 183: 13-year-old with immune deficiency, arthralgia, retinal vasculitis, and hepatitis caused by a variant in the GDF11 gene. Contact us if you know of others with similar symptoms and variants in this gene! undiagnosed.hms.harvard.edu/participants/p…

Another #algorithm with questionable payoff. Epic's predictor for sepsis misses many cases and sends lots of false alarms wired.com/story/algorith… via Tom Simonite

Thrilled to visit the ⁦UDN⁩ leaders at Vanderbilt! The UDN tag line, “Solving medical mysteries through team science”, continues to inspire the work I am fortunate to do ⁦VA Research⁩.

New in Genetics in Medicine! Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 pubmed.ncbi.nlm.nih.gov/34113007/ #GDF11

AI bias folks: NIST is requesting comment on a new framework for identifying and managing bias in AI. Deadline is Aug 5. Please do comment! nist.gov/news-events/ne…

Delta: WHO urges fully vaccinated people to continue to wear masks as variant spreads cnbc.com/2021/06/25/del…

Here is a figure to help learners understand the OVERDIAGNOSIS rate in the NLST trial. Published in 2019 with 11.3 years of f/u, it shows the lung cancer incidence in the CXR arm eventually caught up to the LDCT arm. #lcsm jto.org/article/S1556-…

New gene of interest (ZC3H12C) identified for UDN Participant 119. Contact us if you know of others with variants in this gene! undiagnosed.hms.harvard.edu/participants/p…

Remarkable work by @STLOUISVA researchers Veterans with lung cancer receive better quality of care and have superior outcomes at the VA (compared to non-VA) VA Research VA HSR Rachel Ramoni WashU Surgery Wash U General Surgery Residency Brendan Heiden Annals of Surgery bit.ly/3xnlZWc

New in AJHG! TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila pubmed.ncbi.nlm.nih.gov/34314705/ #Drosophila #TNPO2

Thrilled to share that Steve Dubinett, who is a lung cancer specialist that has received the highest award from VA Research, is now the Interim Dean of the School of Medicine at UCLA. #lcsm David Geffen School of Medicine at UCLA . Rachel Ramoni research.va.gov/about/awards/a…

Come join me and an incredible team Nature Medicine to help to shape the future of medicine - nature.com/naturecareers/…

We are compiling a list of local and national resources for those with #undiagnosed and/or #raredisease (post diagnosis, financial support etc) . If you know of any please respond (but also RT and share!) we want to make this an accessible and expansive resource for all