Join us on May 16th, '23, for our online workshop on "South-North and South-South Collaborations in Medical Genomics Research in Africa." with @shahida_moosa @GMubungu and L. Bouguenouch.
#GenomicsInAfrica #MedicalGenetics
https://kfpe.scnat.ch/en/annual_conference/registration/uuid/i/0587c141-1dc6-51ae-95da-15520b31e4da-South-North_and_South-South_Collaborations_in_Medical_Genomics_Research_in_Africa
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RT @KFPE_CH
What can we do to #…
https://twitter.com/KFPE_CH/status/1641062111487877122

RT @EdEsplin
#MedicalGenetics, it's not just for #diagnostics anymore...just the first @TheACMG #TherapeuticsBulletin on a recently approved #precisiontherapy for #patients w/ #raredisease (@lorenpena9), more to come...

#Access #ReduceDisparities #Germline #GeneticTesting #PrecisionMedicine… https://twitter.com/i/web/status/1640773579402022912

RT @MarilenaMelas
Always excited to see new therapies for genetic disorders uncurable till now! This adds more value to the #geneticdiagnosis! 💪🧬#GeneticSyndromes #MedicalGenetics #rettsyndrome https://www.rettsyndrome.org/trofinetideapproved/

Do you know what are and how to study genetic #channelopathies? Let's meet at #ICHG2023 on Sat. morning. Limited to 9 attendees! Sign in at the @AfSHGenetics booth. DM me if you have questions!
#IonChannels #MedicalGenetics #RareDiseases

Just read "Racialising genetic risk: assumptions, realities, and recommendations" by Cerdeña et al. It might be the best summary of pitfalls of 'race' in human medical genetics I've read. I specially appreciated the constructive solutions, and the attention to situations outside of the USA (even though USA examples dominate). #HumanGenetics #racism #MedicalGenetics
https://doi.org/10.1016/S0140-6736(22)02040-2

On that note - this is an absolutely harrowing story (CN, #BabyLoss) but maybe there's hope that science & indeed scientists can change the way expert witnesses + evidence is handled within legal systems.
https://www.nature.com/articles/d41586-022-03577-9
#genetics #medicalGenetics #SitP cc @Parole_Lawyer@twitter.com

#Introduction I posted one of these on my first server but they haven't migrated here. So I will do it again.
I am a #PhysicianScientist with a PhD in Immunology. I trained as a #Pediatrician and then as a #MedicalGeneticist. I was in the first cohort of doctors who got board certified in #MedicalGenetics.
I was at Baylor College of Medicine for 28 years where I had a very active clinical practice. Have worked in Industry for the last 6 years (Illumina for 5y).
#ORCID https://orcid.org/0000-0001-7409-3578

@drupad I am a specialist in #MedicalGenetics . Did you know that’s an ABMS accredited specialty?
Most of us are also boarded in Peds but there are a significant number with a background in Ob/Gyn, Family, and Internal Medicine