Dad, husband, scientist. Focused on genomics, rare disease and the future of medicine. Opinions and tweets are my own.
San Diego, CA
Joined March 2013
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Ryan J Taft retweeted
You are not alone in this waiting.
We are inviting you to join the Global Event: Rasuwa Hope and Awareness — a gathering of families from around the world who are holding onto hope for a loved one still missing after the Rasuwa floods, together with survivors who have found their way back and want to share what they know.
This is not a briefing or a press event. It is a space to be together, to hear directly from people who were there, and to hold onto hope alongside others who understand exactly what these weeks have felt like.
When:
Sun, Sept 6 · 5:00 PM Pacific (USA)
Sun, Sept 6 · 8:00 PM Eastern (Canada)
Mon, Sept 7 · 5:30 AM India (IST)
Mon, Sept 7 · 8:00 AM Malaysia (MYT)
Mon, Sept 7 · 10:00 AM Australia Eastern (AEST)
Where: Virtual and in person, hosted from the San Francisco Bay Area
Speakers: Those who survived, sharing their own accounts
Please register so we can send you the meeting link and any updates directly: 👉 findingarpan.vercel.app/hope
With hope.
In a little more than a week I'll be participating in the National Academies’ Roundtable on Genomics and Precision Health workshop on next-generation newborn screening, examining the use of DNA sequencing as a supplement to traditional newborn screening.…lnkd.in/gB8XtfyT
The biggest challenge in rare genetic disease diagnostics isn't generating the sequencing data, it's interpretation. This paper from Emedgene, an Illumina Company and Baylor Genetics shows that AI can prioritize the vast majority o…lnkd.in/e5Te-iTh lnkd.in/eevfWgJx
Today we announced a partnership with Henry Ford Health, a national leader in the study of racial and ethnic disparities in health care, that gets us even closer to #genomesforeveryone. With HFH we will investigate the potential of…lnkd.in/gm3RGA_E lnkd.in/gEB26rb8
The launch of this program means answers for many more patients! Illumina will donate $120M in-kind over five years. Labs across the globe will be directly supported to provide WGS to patients in need. This is big.
Our new iHope™ Genetic Health program will expand access to whole genome sequencing to low- & middle-income communities globally, with more than 1/3 of funds allocated to patients in Africa. More about our partnership: bit.ly/30nWAA1 @GeneticAlliance #iHope #Genomics
Ryan J Taft retweeted
There are simply not enough synonyms for "proud" to convey the impact this will bring to the world. Thank you to @illumina Leadership for supporting this and a special thank you to @ryanjtaft for the vision to get us here.
Our new iHope™ Genetic Health program will expand access to whole genome sequencing to low- & middle-income communities globally, with more than 1/3 of funds allocated to patients in Africa. More about our partnership: bit.ly/30nWAA1 @GeneticAlliance #iHope #Genomics
Ryan J Taft retweeted
Just published @ScienceMagazine
A gene variant in the interferon pathway, our innate immunity, is associated with protection from severe Covid, missing in horseshoe bats, and has marked global variability with high prevalence in Africa
science.org/doi/10.1126/scie…
@virologist_atu
Neonates w suspected genetic disease in the ICU: 2x more get a dx and precision care with WGS. Our findings out this week in @JAMAPediatrics. bit.ly/39GxHAO
@RadyGenomics @ChildrensPhila @unmc @ChildrensOmaha @chocchildrens @STLChildrens @LeBonheurChild
Ryan J Taft retweeted
We are thrilled to launch the Gene Curation Coalition (GenCC) Database. GenCC brings together 11 groups curating gene-disease validity and integrates their results into a common database - kind of like a ‘ClinVar for genes’! Start searching here search.thegencc.org! (1/4)
I am proud and excited about the release of the TruSight Software Suite. Built with the potential of whole genome sequencing in mind from the start, it will enable labs to interrogate everything from a copy number variant to a repeat expansion. More diagnoses for more patients!
TruSight Software Suite will set the standard for scalable and swift interpretation of genomic information, enabling whole-genome sequencing to become the standard of care in rare diseases.
illumina.com/company/news-ce…
Ryan J Taft retweeted
David Bentley is the chief scientist at @illumina, where he develops new DNA sequencing technologies for faster and more accurate sequencing of complex genomes. In this week’s #HGPCountdown, watch him discuss working on the first phase of the International HapMap Project.
Incredibly pleased to be part of a group that is tackling best practices in the delivery of clinical whole genome sequencing. This is an important step in making genomes available to every patient that needs one.
We are pleased to announce our inaugural publication in @GenomeMedicine!
This publication highlights our aims of expanding access to WGS for rare disease through the development of laboratory & clinical best practices & clinical research frameworks. rdcu.be/b4szI
Ryan J Taft retweeted
A great piece of scientific detective work. Congrats to Cas Simons and the team @MCRI_for_kids @ghelman91 @Mitochondriac_ and colabs. Pleased we could help out with some @nanopore sequencing.
RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency. medrxiv.org/cgi/content/shor… #medRxiv
Ryan J Taft retweeted
Article today in @NatGeo on tracking #coronavirus spread using genetic mutations. @PhilFebboMD_CMO: “In the future, sequencing will become an even more important tool to identify local or regional viral flare-ups before they spread." bddy.me/2xwQONV
Ryan J Taft retweeted
I am going to work as a GP every day and risking my own and my family's health to help others stay safe, with dwindling protective equipment...and Australia is letting this happen right now?? #manslaughter @AusBorderForce @normanswan @LaTrioli @RACGP @ScottMorrisonMP #COVIDIOT
I am livid 😡
This was international arrivals at @SydneyAirport this morn.
When @AusBorderForce was asked wtf re #SocialDistancing the reply was “not our problem, that’s biosecurity.”
#coronavirusaustralia #covid19australia
Ryan J Taft retweeted
#covidpathways biocurators: a few of us have started a GitHub organization (github.com/covid-pathways) to track/organize parallel efforts at gathering and curating information about #covid19 interactions and disease mechanisms. Add your info: docs.google.com/document/d/1…
Ryan J Taft retweeted
The US will reach 100,000 #COVID19 cases & > 900 deaths by Friday, March 27, w/ doubling rates of 2.4 & 3.5 d, respectively. -> #1 in the world.
Recall that South Korea & US had their 1st patient diagnosed on Jan 21/22 (within 24 hrs). The Δ for SK vs US was testing + tracing
