Happy Nowruz!

Timely genetic diagnosis in adults: Genetic diagnoses in adult patients are sometimes delayed by a decade or more, but it's possible to do better. ➡️ cmaj.ca/lookup/doi/10.… @docguerin Hanna Faghfoury

Hanna Faghfoury I have a bunch of recommendations shared with me from a friend! When Charlie met Emma , we move together, bodies are cool, zoom by Robert munsch, it’s ok to be different Todd parr, fast friends, the girl who thought in pictures (rhymes, good for classrooms), what happened to you

"Please re-contact us every few years as we may have updates for you" are words commonly stated to genetics patients by their providers. Commentary by Michael Mackley and Dr. Lauren Chad @sickkidsnews explores the equity implications of this approach. nature.com/articles/s4143…

TeleGraf today! 11 am EST. Genetics of Premature Ovarian Insufficiency by Dr. Ari Morgenthau, endocrinologist and adult genetics fellow Department of Medicine University of Toronto Register here: us06web.zoom.us/webinar/regist…

Found this gem in the genetics office at The Hospital for Sick Children (SickKids). The cover font and graphics were pretty rad. Content reflected simpler times with very different unknowns. American Journal of Medical Genetics Parts A+C

We received over 90 proposals to the CERA and The Hastings Center for Bioethics co-sponsored Special Issue of the Hastings Center Report, "Envisioning a More Just Genomics"! We are thrilled to announce the acceptance of abstracts from these 15 authors/author groups (1/3)

Hashtag preach

1./13 I have FOMO on #Eshg2023 so here is a tweetorial 🧵on: ‘How to interpret a VUS for the medical specialist’ Pic from Franklin by QIAGEN which I use in my workshop Pls share/retweet #MedEd #MedTwitter #FOAMed #rarediease #Genetics #GeneChat

Congrats to the amazing Jessica Priestley, MD PhD, who took the last few months to produce an adorable infant AND this fantastic paper, the first study of #Kabuki syndrome in adulthood. We describe an unreported premature #aging phenotype in this #genetic syndrome: dx.doi.org/10.1002/ajmg.c…

Remember when it was fun on here?

Thanks to everyone who applied to our #GenerativeAI Contest! We’re excited to announce 3 winners: Drs Hanna Faghfoury, Helen Fan & Jethro Kwong! We’re looking forward to working with you on your projects leveraging AI to improve patient care University Health Network! Read more: uhnhub.ai

Happy New year from Medskl! January is #Genomics month at MEDSKL for #medicalstudents. Interested in learning about Medical Genetics is? I am hosting a mentorship session to chat (bring your Qs!): Jan 16, 7EST. medskl.com/events #medtwitter #foamed #pediatrics #medicine

Check out #medical #genetics and genomics events we're hosting at medskl this month. 3 events, including a quiz. Winners will be awarded $100-250 in amazon gift cards! 1. Jan 16th 2. Jan 23rd 3. Jan 30th. All 7pm EST. Register at medskl.com/events

Is #exome sequencing just for kids? In our study we find that a whopping 25% of young adults (18-40y) in the ICU had a Mendelian #genetic diagnosis identified by exome sequencing. This could seriously shake things up for patient receiving #CritcalCare medrxiv.org/content/10.110…

Study presents pathway for patients with suspected inherited retinal disease, which may reduce time to molecular diagnosis and may expedite the pathway to subsequent gene therapy trials. ow.ly/KZeh50Te8qu Brian Ballios MD PhD Hanna Faghfoury Grace Yin U of T DOVS University Health Network Queen's Health Sciences