Medical Geneticist

CMO, Clinical and Biochemical Geneticist, Passionate about improving the Dx and Rx of Genetic Disease. Tweets are my own opinions

[Medical Geneticist @MedicalGenes]

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 https://t.co/UEgfr1chBC
https://t.co/jbGESO64tH

[Medical Geneticist @MedicalGenes]

@ameliargh @nytimes While I cannot pretend to understand the pressures of being a woman, I think many men can relate to dissatisfaction with their belly and frequent comments e.g. about 6 packs, thanks for writing this

[Medical Geneticist @MedicalGenes]

Important article from @RadyGenomics, worth comparing with the recent ethics and framework pieces produced by our colleagues @GenomicsEngland https://t.co/lXCMR7MNhE https://t.co/jcDrPSFSRy

[ASHG @GeneticsSociety]

Authors of a new @AJHGNews article introduce a platform for scalable, universal, rapid whole-genome sequencing newborn screening & diagnosis of rare diseases.

Learn more: https://t.co/sWfRFNV4oj

[Medical Geneticist @MedicalGenes]

A mess we really shouldn't have been in. It is hard to describe the angst this is causing many families.

[Public Health Watch @pubhealthwatch]

"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:

https://t.co/bL7UaVOWL8

[Medical Genome Initiative @medical_genome]

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. https://t.co/G6X0l1jmhh

[Rady Genomics @RadyGenomics]

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. https://t.co/Zw3PwctMLf
#genetics #genomics

[Medical Geneticist @MedicalGenes]

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

[Medical Geneticist @MedicalGenes]

Han Bruner probably responsible for the quote of the day at #ICIEM2021 Doctors are great but Exomes are better

[Medical Geneticist @MedicalGenes]

This is the truth, read the rest of the thread

[Kate Bowler @KatecBowler]

a blessing for the grace that makes no sense.

blessed are we, the graced.

we who don't deserve it, whose failures haunt us, the things we said, the things we left unsaid, the decisions and addictions and broken relationships that have ripple effects we still feel today.

[Medical Geneticist @MedicalGenes]

If you are in need of a happy story today

[Medical Geneticist @MedicalGenes]

@JWProkop This is such an amazing story! Congrats to all!

[Medical Geneticist @MedicalGenes]

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.

[Rady Genomics @RadyGenomics]

What's the impact of #WholeGenomeSequencing on clinical management in a diverse population of acutely ill infants? Findings in @JAMAPediatrics paper: https://t.co/iARh41RgR6
@illumina @ChildrensPhila @unmc @ChildrensOmaha @chocchildrens @STLChildrens @LeBonheurChild #raredisease

[Medical Geneticist @MedicalGenes]

@AmericanAir requesting i put a face mask over my non invasive ventilator! Next flight.. we know you told special assistance but we need to decide for ourselves if you can use FAA approved device on board. So tired of having to fight to use life saving equipment on every flight.

[Medical Geneticist @MedicalGenes]

So excited not just for the intent to cover testing but the reimbursement mechanism that makes this viable

[Rady Genomics @RadyGenomics]

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!
https://t.co/dYVx2r2vOS
#RareDisease #RapidPrecisionMedicine #WholeGenomeSequencing

[Medical Geneticist @MedicalGenes]

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 https://t.co/k3bgZ5kW84

[Medical Geneticist @MedicalGenes]

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 https://t.co/H0UjwsVYj1

[Medical Geneticist @MedicalGenes]

Petition: Fund newborn screening for spinal muscular atrophy immediately https://t.co/2MgkFJBtv5

[Rady Genomics @RadyGenomics]

.@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
https://t.co/zddC6rEdp8

[BioTechniques @MyBioTechniques]

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!

[Medical Geneticist @MedicalGenes]

@bgannin Interesting prejudice, the baby isn't white.