Amazing #RareDisease discovery by our UK colleagues which gave us 4 diagnoses from our 130 genome-sequenced patients in a single day! Answers for families and tangible steps towards best care. Brilliant collaboration @AnneOtation@nickywhiffin@dgmacarthur @SimonsCas @mgds26
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: https://t.co/M7InIzrIuH Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ???
I didn’t initially either, but here is the story of RNU4-2 🧵1/9
People from across Australia are coming together to say YES!
Casting your vote this week and looking for more information on the Voice? Head to https://t.co/vnFUsXJ5Ff to read why this is a once-in-a-generation chance for meaningful change.
#yes23
@DGlaucomflecken I couldn’t do my day job (medical geneticist) without my other passion (writing fiction). Fiction fills my bucket, and medicine needs workers with a full bucket!
@MST_Writes Enjoyed the rant! And here’s to anything which preserves mental health and allows time for measured career choices for a cohort of young people who have had the pandemic mess with their idea of a future. Kudos to your daughter
What happens when those with a duty of care misuse their power? @McFarlaneLyn, @KayteNunn and @SusanWhiteAuth1 have written gripping crime stories about medical systems failing patients and staff; see them in conversation with Margaret Hickey on 10 Sept! https://t.co/ajYMZ2pzuj