Rachel Ramoni

@mattyglesias Ha! What is Israel’s human development index?

Real people show a marked preference for warm weather but the Human Development Index strongly disagrees.

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

@LucasMDonovan @vahsrd @SeaDenCOIN @uwpccm Congratulations!!

Excited (and a little bit terrified) to receive notice of my first independent award as PI from @vahsrd. Incredibly grateful to all of my mentors, collaborators, and colleagues through the years who’ve made this possible! @SeaDenCOIN @uwpccm

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

Thrilled to share that Steve Dubinett, who is a lung cancer specialist that has received the highest award from @VAResearch, is now the Interim Dean of the School of Medicine at UCLA. #lcsm @dgsomucla @UCLAJCCC @RachelRamoni research.va.gov/about/awards/a…

New in @AJHGNews! 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

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) @VAResearch @vahsrd @RachelRamoni @WashUSurgery @WashUSurgRes @BrendanHeiden @AnnalsofSurgery bit.ly/3xnlZWc

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…

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-…

@cami_pim @MeganMc_MedAnth @vahsrd Congratulations!! So thrilled that you will be part of the @VAResearch family for years to come!

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…

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

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

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

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…

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…

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.

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