Learn Medical Genetics

Resources for learning about medical genetics. Curated by @Philip_M_Boone and @RMThompsonMD.

[Learn Medical Genetics @GeneticsLearn]

There is an unmet need for free, online lectures about genetic conditions https://t.co/QlAxlKa0ML #medgenetics

[Learn Medical Genetics @GeneticsLearn]

Gaucher’s Disease | NEJM Image Challenge https://t.co/rtEgZIAkma

[Learn Medical Genetics @GeneticsLearn]

Learn about adrenoleukodystrophy in 6 minutes: https://t.co/LkHuFx5dW3

via @OsmosisMed @RareDiseases

[Learn Medical Genetics @GeneticsLearn]

Could we crowdsource to build a database of assessment/plan note templates for ALL referral indications and disorders?

Could improve efficiency and learning for trainees + junior practitioners.

#medicalgenetics #metabolicgenetics #clinicalgenetics

[Learn Medical Genetics @GeneticsLearn]

Mitapivat versus Placebo for Pyruvate Kinase Deficiency | NEJM https://t.co/nQ4HIv5N8O

[Learn Medical Genetics @GeneticsLearn]

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial https://t.co/MMn17ViVFM

[Learn Medical Genetics @GeneticsLearn]

5-video series on imaging in skeletal dysplasias: https://t.co/31qdZUDKYH

By Dr. Mamdouh Mahfouz @SSREgypt

[Learn Medical Genetics @GeneticsLearn]

"Imaging of white matter diseases" https://t.co/W6dNDlkUgh

Video lecture by Dr. Mamdouh Mahfouz @SSREgypt

[Learn Medical Genetics @GeneticsLearn]

Diagnosing Hypophosphatasia https://t.co/TdCJ2zBJTt via @YouTube

[Learn Medical Genetics @GeneticsLearn]

https://t.co/MJRqn130H3 -- A useful tool to display cancer risk by age, sex, prior surgery, and prior cancer for each of 32 hereditary cancer syndrome genes.

Displays risk of each relevant cancer type vs non-carrier, management recs, and references!

[Philippe Aftimos, MD  @aftimosp]

G. Parmigiani presents the ask2me tool, allowing the risk calculation for cancer susceptibility genes but also showing management strategies based on guidelines #AACR18

[Learn Medical Genetics @GeneticsLearn]

Central hypothyroidism with testicular enlargement (CHTE):
-Central hypothyroidism
-Delayed pubertal testosterone rise
-Adult macroorchidism
-Variable prolact deficiency
-Occasional transient partial GH deficiency
-LoF in IGSF1 (XL)
More: https://t.co/Vw78hit9hQ

[Learn Medical Genetics @GeneticsLearn]

Can you name 1 type of noncoding disease variant? How about 3? Here's a table with >20!

From a preprint providing recs for for clinical interpretation of non-coding region variants: https://t.co/iv0S0uDcNa via @nickywhiffin @j_ellingford

[Nicky Whiffin @nickywhiffin]

🎉 Excited to start 2022 by sharing our new recommendations for clinical interpretation of non-coding region variants:
https://t.co/NF0mmftJ8O

We are posting as a pre-print before journal submission to get your feedback - so please, get interpreting and share your thoughts! 1/9

[Learn Medical Genetics @GeneticsLearn]

A personalized approach to prescribing mitochondrial supplements from "Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines" by Barcelos et al., 2020 (PMID: 33105273)

@ganetzky1

[Learn Medical Genetics @GeneticsLearn]

"FAOD: The Other Mitochondrial Diseases" (56 min video lecture) https://t.co/tZFdqiouZe via Jerry Vockley, @MitoAction

[Learn Medical Genetics @GeneticsLearn]

Transgenic Epidermal Cultures for Junctional Epidermolysis Bullosa — 5-Year Outcomes | NEJM https://t.co/N0Cc66QY3l

[Learn Medical Genetics @GeneticsLearn]

Common clinical features of 22q11.2DS and most common age at presentation

Source: Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association https://t.co/HOVcsK6xeM

@American_Heart @AmerAcadPeds

[Learn Medical Genetics @GeneticsLearn]

Short video demonstrating a genetic cervical dystonia. https://t.co/7nBVdxzsfq

From: Kumar et al "A GNAL mutation carrier with cervical dystonia" JAMA Neurol 2014

[Learn Medical Genetics @GeneticsLearn]

Pacak–Zhuang syndrome:
-Polycythemia + paraganglioma or somatostatinoma
-Caused by GOF mutations in the gene encoding HIF2α (EPAS1, also known as HIF2A)
-May be treatable with belzutifan, an HIF2α inhibitor, trialed in one patient here (NEJM 2021): https://t.co/Oc0o3XNSEz

[Learn Medical Genetics @GeneticsLearn]

Hurler syndrome (MPS1H) treated with autologous gene-corrected hematopoietic stem- and progenitor-cells! NEJM 2021.

Paper: https://t.co/IRNMp1UJaL

Perspective: https://t.co/nG7Z4JFEAN

[Learn Medical Genetics @GeneticsLearn]

How are preclinical medical students learning? A "parallel curriculum."

"The Self-directed Medical Student Curriculum" JAMA 2021 https://t.co/QJW0y707oo via @JAMA_current #MedEd

[Learn Medical Genetics @GeneticsLearn]

"Medical Genetics", 1h overview video. Perfect for pre-med/med student rotators. https://t.co/I8SBxD9O6p

By Kaiyang Song, Osler Society for Medical Education