CMO, Clinical and Biochemical Geneticist, Passionate about improving the Dx and Rx of Genetic Disease. Tweets are my own opinions
San Diego, CA, USA
Joined March 2012
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I am thrilled to announce that I have joined an incredible team working to make on demand individualized therapy for rare disease a reality in my new role as CMO at Creyon Bio linkedin.com/posts/david-dim…
creyonbio.com/latest-news/
Important article from @RadyGenomics, worth comparing with the recent ethics and framework pieces produced by our colleagues @GenomicsEngland mdpi.com/2409-515X/8/3/40 frontiersin.org/articles/10.…
Authors of a new @AJHGNews article introduce a platform for scalable, universal, rapid whole-genome sequencing newborn screening & diagnosis of rare diseases.
Learn more: bit.ly/3QabP3U
A mess we really shouldn't have been in. It is hard to describe the angst this is causing many families.
"Somehow U.S. infrastructure includes a strategic petroleum reserve harboring half a billion barrels of oil, but when a single baby formula plant gets shut down, suddenly millions of families are left to fend for themselves."
👇 from @MishaAngrist:
publichealthwatch.org/2022/0…
Medical Geneticist retweeted
Check out our latest paper in #npjGenomicMedicine where we present recommendations for the interpretation and reporting of clinical genome sequencing! Be sure to check out the Supplement for a wealth of @medical_genome compiled resources. rdcu.be/cKWov
Medical Geneticist retweeted
New study of #healthcare professionals shows positive views on the potential for rapid #WholeGenomeSequencing in clinical practice in pediatric acute care. It's the largest study of health professionals' views of rWGS to date. mdpi.com/2227-9067/9/3/357/h…
#genetics #genomics
Han Bruner probably responsible for the quote of the day at #ICIEM2021 Doctors are great but Exomes are better
But key data at #ICIEM2021 showing that 30% of disease causing variants in metabolic diseases in Dutch population will be missed by genetic classification alone
This is the truth, read the rest of the thread
If you are in need of a happy story today
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So excited that this article is published. RCT evidence demonstrating the superiority of clinical WGS over standard testing (including WES and RNAseq in some cases) in more effectively caring for children. The evidence now is overwhelming, this needs to be standard of care.
What's the impact of #WholeGenomeSequencing on clinical management in a diverse population of acutely ill infants? Findings in @JAMAPediatrics paper: jamanetwork.com/journals/jam…
@illumina @ChildrensPhila @unmc @ChildrensOmaha @chocchildrens @STLChildrens @LeBonheurChild #raredisease
So excited not just for the intent to cover testing but the reimbursement mechanism that makes this viable
Today, Michigan becomes the first state to make rapid Whole Genome Sequencing™ a covered benefit for eligible infants enrolled in Medicaid. Congrats on extending the success of Project Baby Deer!
michigan.gov/documents/mdhhs…
#RareDisease #RapidPrecisionMedicine #WholeGenomeSequencing
New study from our collaborators showing high utility of rWGS (r): Leveraging Rapid Genome Sequencing to Alter Care Plans for Pediatric Patients in a Community Hospital Setting in the United States - The Journal of Pediatrics jpeds.com/article/S0022-3476…
An extensive study by the team at @UCSDMedSchool @radychildrens @RadyGenomics @idbydnainc showing the value of metagenomic sequencing compared with standard practice for pediatric joint infections academic.oup.com/ofid/articl…
Petition: Fund newborn screening for spinal muscular atrophy immediately petition.parliament.uk/petit…
Medical Geneticist retweeted
.@radygenomics Sr Medical Director David Dimmock (@MedicalGenes) joined @SciTristan to explore the ethics of #WholeGenomeSequencing on the latest #TalkingTechniques podcast from @MyBioTechniques. #sequencing #raredisease #genomics #GenomicMedicine
biotechniques.com/podcasts/p…
Medical Geneticist retweeted
Interested in the ethical questions posed by a world that is rapidly adopting widespread whole genome sequencing? Check out this podcast to get an insight into the debates that are occurring and the importance of ethics in whole-genome sequencing! Supported by @Psomagen!
In this latest episode of #TalkingTechniques, I return to #WholeGenomeSequencing, this time looking at the ethical discussions currently surrounding the technique. 1/5
biotechniques.com/podcasts/p…
Rapid Genetic Testing May Have Spared This Baby From Death medpagetoday.com/special-rep…
A slightly more in depth look at the child published in NEJM last week
Medical Geneticist retweeted
Our thanks to @SenatorCollins, @SenatorMenendez & @SenMarkKelly for introducing bipartisan legislation S. 2022 to end the #DiagnosticOdyssey and enable States to provide better access to #WholeGenomeSequencing for eligible children with #raredisease under the Medicaid program.
So pleased to have this data published in a peer reviewed journal. Thanks to the many folks who made this possible and carried out the day to day work. Hopefully #AB114 will make this testing permanently available @BMaienschein
Our new study in @AJHGNews shows the success of #ProjectBabyBear. Using #rWGS to diagnose infants with #raredisease leads to better health outcomes & lower medical costs. cell.com/ajhg/fulltext/S0002…
#genomics
@radychildrens @UCSFBenioffOAK @UCDavisChildren @CareForKids @chocchildrens
Medical Geneticist retweeted
Using rapid whole-genome sequencing as a first-line test "saves money, and it saves kids lives, and it improves outcomes, and it makes parents happier and docs happier," says @MedicalGenes. academictimes.com/genetic-te…