Learn Medical Genetics @GeneticsLearn
Resources for learning about medical genetics. Curated by @Philip_M_Boone and @RMThompsonMD. Joined April 2021-
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Gaucher’s Disease | NEJM Image Challenge nejm.org/doi/full/10.10…
Learn about adrenoleukodystrophy in 6 minutes: youtu.be/dK4Bl9E-y5M via @OsmosisMed @RareDiseases
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
Mitapivat versus Placebo for Pyruvate Kinase Deficiency | NEJM nejm.org/doi/full/10.10…
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 thelancet.com/journals/laneu…
5-video series on imaging in skeletal dysplasias: youtube.com/watch?v=Spwp7e… By Dr. Mamdouh Mahfouz @SSREgypt
"Imaging of white matter diseases" youtube.com/watch?v=Tyfoi4… Video lecture by Dr. Mamdouh Mahfouz @SSREgypt
Diagnosing Hypophosphatasia youtu.be/FCFBJ2P989g via @YouTube
ask2me.org/calculator.php -- 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!
ask2me.org/calculator.php -- 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! https://t.co/FU3aGNCwEg
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: omim.org/entry/300888
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: medrxiv.org/content/10.110… via @nickywhiffin @j_ellingford
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: medrxiv.org/content/10.110… via @nickywhiffin @j_ellingford https://t.co/R15T03Yh84
A personalized approach to prescribing mitochondrial supplements from "Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines" by Barcelos et al., 2020 (PMID: 33105273) @ganetzky1
"FAOD: The Other Mitochondrial Diseases" (56 min video lecture) youtu.be/OS0-02gfIWs via Jerry Vockley, @MitoAction
Transgenic Epidermal Cultures for Junctional Epidermolysis Bullosa — 5-Year Outcomes | NEJM nejm.org/doi/full/10.10…
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 pubmed.ncbi.nlm.nih.gov/30571578/ @American_Heart @AmerAcadPeds
Short video demonstrating a genetic cervical dystonia. youtube.com/watch?v=mSwo28… From: Kumar et al "A GNAL mutation carrier with cervical dystonia" JAMA Neurol 2014
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): nejm.org/doi/full/10.10…
Hurler syndrome (MPS1H) treated with autologous gene-corrected hematopoietic stem- and progenitor-cells! NEJM 2021. Paper: nejm.org/doi/full/10.10… Perspective: nejm.org/doi/full/10.10…
How are preclinical medical students learning? A "parallel curriculum." "The Self-directed Medical Student Curriculum" JAMA 2021 ja.ma/2ZjEpv4 via @JAMA_current #MedEd
"Medical Genetics", 1h overview video. Perfect for pre-med/med student rotators. youtu.be/AtUmhSkUS3k By Kaiyang Song, Osler Society for Medical Education
The Journal of Inheri... @JIMD_Editors
4K Followers 827 Following At a recent Council meeting a decision was made that the SSIEM will no longer interact with X. Please find us on any other Social Media channel.
Ashish Marwaha BMBCh,... @DrAshM2
1K Followers 2K Following Clinical Medical Geneticist 🇨🇦, immunogenetics, #T1D polygenic risk. #raredisease clinical trials. Tweets=own opinion
StudyRare 🧬 @studyrare
4K Followers 835 Following Board prep 4 @GeneticCouns students & @TheABMGG fellows. Led by clinical geneticist @dpique12 Monthly 📧 w/ board-style q's at https://t.co/r7TJ7GJZRW
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Academic Consultant in Clinical Genetics 💬 Social media chair: @ESHGsociety. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
med expert @medicinemanboy
5 Followers 664 Following
harun yıldız @harunyl14
12 Followers 281 Following
agos lazo @agostinalazo123
7 Followers 70 Following
Ana Clara Fandinho @Fandinho_ac_gen
2 Followers 40 Following
The Nice & Accurate P... @snoeflurry
575 Followers 3K Following Allons-y | she / her | Freshly minted doctor | Easily lured by coffee, chocolates and conversations #MedTwitter
Mahmut Gezen @mhtgzn43
0 Followers 21 Following
Wenlin (Sophie) Zhang @WenlinSophieZ
112 Followers 463 Following Wife | Mother | Incoming PGY2 Medical Genetics @UCLAHealth | TY @MissionComHosp | PhD @IndianaUniv | MD @SunYatsen_Uni
Vasudha Mishra | MBBS @mish_amygdala
115 Followers 556 Following BabyDoc | Aspiring Physician-Scientist | she/her | #MedTwitter #MedX #HealthComm #SciComm #HealthTech #GraphicMedicine #FOAMed #NarrativeMedicine #artthatheals
Muhammad Adnan Ali @Ali_Adnan66
37 Followers 417 Following molecular biologist, zoologist. optimist and always hopeful.
Marwan M. Saleh @MarwanAlfahdawy
298 Followers 705 Following Lecturer: Genomics, Antibiotic resistance, Phages, WGS, Bioinformatics
. @alswedani2
0 Followers 1K Following
Darel Mouanda @DarelM59629
0 Followers 9 Following
Lindsay Phillips @lindsaphillips
75 Followers 111 Following Two truths and a lie: I have a Molecular biology PhD, an irrational fear of horse masks, and double jointed toes. (they’re all true)
Parthib Roy @IamParthibRoy
6 Followers 311 Following Just a BSc Biotechnology and Genetic Engineering student🧬History lover🗺Bibliophile📚Sick of all the hatred going around in the world.May all be happy.🕊️🛕🕉️
Jason Taylor @scoutout777
0 Followers 23 Following
Jordan Li @JordanLi3
19 Followers 393 Following
Sadaf Saba @Sadafs_medgen
1 Followers 16 Following
Rolando Garcia, PhD.,... @genomics1014
7 Followers 27 Following Genetics and genomics, hematolymphoid disorders, machine learning, molecular docking and simulation.
Farmakeu @Farmakeu
5 Followers 160 Following
Nel Nielsen @nel_nielsen
80 Followers 875 Following
Alien @Gott_vergib_mir
0 Followers 116 Following
Ohood Sktawi @OSktawi53899
3 Followers 80 Following
Scatterplot @scatter_plot
144 Followers 1K Following mbbs, md #ComMedX , gen z 👣🏳️🌈 • "The anguish of the earth absolves our eyes till beauty shines in all that we can see" Disclaimer: I do endorse Retweets.
Stanley_EZ @ugwu_stanley_EZ
146 Followers 310 Following Community Builder/Manager @official_GIDA🔴⚪️. Contributing @revoxdotai(Revoxhive bot). blockchainXGenes🧬. Web3 Enthusiast || NFT ART (Zancans Garden🌿). CFC🟦
Mohammed Alabdly @mohammed_abdly
166 Followers 393 Following طبيب مبتعث | طب الأمراض الوراثية medical genetic resident in Aix-Marseille universty
María A. Garrido @marangg_
239 Followers 615 Following MD | Máster en reproducción asistida | Cochrane member | Investigación en genética de la reproducción.
Yasmine Kamel @yasmineMD184
54 Followers 488 Following MD🇪🇬 | USMLE step1:done step2:done ..…. Aspiring pediatrician👶🏻🩺 “just keep swimming.”🐠
Abhiramie Y @vaishsmiles
57 Followers 953 Following Reader | Listener | Medical Doctor | PG student in Bioinformatics & Biomedical Informatics She/Her
Thomas Smol @ThomSmol
14 Followers 164 Following MD phD molecular geneticist @CHU_Lille ULR7364 RADEME @univ_lille
bibi @muceimuito
49 Followers 93 Following
Inherited Metabolic D... @InheritedImdc
51 Followers 87 Following To increase awareness about IEOM The account under supervision of Medical Genetics Consultantحساب للتوعية بالامراض الوراثيه وخاصة مايتعلق بالتمثيل الغذائي
Dr. Julián Campos �... @GeneticistMx
1K Followers 446 Following Médico #Genetista, Estudiante de Doctorado, Maestro en Ciencias y Profesor de #Medicina en Mérida. Promoviendo la #genética por Yucatán. Admin de: @GenesLikeMe
Sudhakar @sudhakarmaddila
143 Followers 2K Following
ikushi @Shachath75
13 Followers 250 Following
Majed @MFr42051803
161 Followers 423 Following
Carter Wright, PhD @ChIPseqCarter
84 Followers 213 Following LGG Fellow | UT Southwestern Medical Center | PhD - @hudsonalpha | Genetics & Genomics 🧬
Glorious Sun @Hero1Warrior
628 Followers 5K Following O Love, divine Love, spread abroad in the world, regenerate life, enlighten the intelligence, break the barriers of egoism, scatter the obstacles of ignorance,
Señorita Isa 🌟�... @isitacana1
108 Followers 541 Following TP53 Reina de las hadas del bosque/emperatriz buscando su imperio Drag´s name: Ivy Ice Amante de la gelatina y el glutamato monosódico Kintsugi
Sarkis @ondanset
0 Followers 25 Following
Elizabeth Garrity @Elizabe55650554
1 Followers 29 Following
National Human Genome... @genome_gov
81K Followers 385 Following Funding research at the forefront of genomics to improve human health. Formerly the Human Genome Project. https://t.co/4hdQRFkFNU
Eric Green @NHGRI_Director
13K Followers 3 Following @Genome_gov Director. Genomicist. St. Louis Cardinals fan. NHGRI privacy policy: https://t.co/zVJz7zRkLX
The Journal of Inheri... @JIMD_Editors
4K Followers 827 Following At a recent Council meeting a decision was made that the SSIEM will no longer interact with X. Please find us on any other Social Media channel.
Ashish Marwaha BMBCh,... @DrAshM2
1K Followers 2K Following Clinical Medical Geneticist 🇨🇦, immunogenetics, #T1D polygenic risk. #raredisease clinical trials. Tweets=own opinion
Genetics in Medicine @GIMJournal
16K Followers 3K Following Genetics in Medicine, an official journal of @TheACMG Site use policy: https://t.co/gMGoSv2TJY. Cover image by https://t.co/CqIOOiJw29 user fanjianhua.
ACMG @TheACMG
18K Followers 4K Following American College of Medical Genetics and Genomics (ACMG): Translating Genes into Health® @GIMJournal #ACMGMtg26 #ACMGFoundation Site Use https://t.co/9QchBLtCEG
ASHG @GeneticsSociety
52K Followers 309 Following The American Society of Human Genetics (ASHG) is the world's largest professional membership organization for human genetics & genomics specialists.
Genome Organisation A... @GenomeOrgAus
534 Followers 516 Following A seminar series bringing together the community of genome organisational researchers. Convened by Tim Johanson and Rhys Allan @wehi_research
Jonathan Weissman's L... @JswLab
10K Followers 3K Following Jonathan S. Weissman's lab at the @WhiteheadInst/@MIT. Account run by lab members.
The Genetics Society @GenSocUK
4K Followers 322 Following The Genetics Society was founded by William Bateson & Edith Rebecca Saunders in 1919 & is one of the oldest learned societies devoted to Genetics in the world.
European Journal of H... @ejhg_journal
8K Followers 7K Following The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical and cytogenetics research
JMG @JMG_BMJ
2K Followers 1K Following Journal of Medical Genetics - a leading international peer-reviewed journal ➡ Original research in human #Genetics #Research #Genomics #RareDisease #Cancer
omim.org @OmimOrg
994 Followers 13 Following This is the official feed for http://t.co/QiArhIoAiU, OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes.
DeannaBrockman @deanna_brockman
292 Followers 413 Following Medical Affairs @color, genetic counselor & co-host of @roseanddna podcast | She/her
Chrissy Austin-Tse @CAustintse
66 Followers 86 Following Clinical Molecular Geneticist @MassGeneral @BroadInstitute | Opinions my own
Association for Diagn... @myADLM
11K Followers 8 Following ADLM, formerly AACC, is the premier global professional association leading the way to high quality, effective laboratory testing. Now on Bluesky. #ADLM2025
CGM at MGH @CGM_MGH
1K Followers 102 Following Center for Genomic Medicine at Massachusetts General Hospital Harvard Medical School
Kaitlin Samocha @ksamocha
4K Followers 622 Following Assistant Investigator @CGM_MGH. Focus on human genomics and modeling rare variation. She/her. You can find me on the other place with the same name.
SMC1A Foundation @cure_smc1a
213 Followers 549 Following X-linked variants in the #SMC1A gene cause developmental and epileptic disorder.
CdLS Foundation @CdLSFoundation
1K Followers 964 Following Cornelia de Lange Syndrome, promoting research & providing support to individuals with CdLS & their families 860.676.8166 #raredisease #cdlsawareness
Heidi Rehm @HeidiRehm
8K Followers 342 Following Genomic medicine researcher; chief genomics officer at MGH; clinical medical officer at Broad Clinical Labs @broadinstitute; Views are my own.
Lab Tests Online @LabTestsOnline
7K Followers 180 Following An online health site designed by lab/med professionals to help patients understand their lab tests.
Talkowski Lab @TalkowskiLab
1K Followers 143 Following Understanding the consequences of genomic variation in human disease.
Genome Aggregation Da... @gnomad_project
2K Followers 15 Following The world's largest open resource of human genetic variation. For help please use https://t.co/RYRjYJLrTQ; feature requests/bug reports to https://t.co/YUQGPHndSI
BIMDG @BIMDG
1K Followers 326 Following Twitter account for British Inherited Metabolic Disease Group. Tweets by Dr James Nurse (@drjnurse) and Dr Rachel Carling (@rachblacklabel).
ClinGen @ClinGenResource
10K Followers 127 Following Sharing Data. Building Knowledge. Improving Care. NIH-funded resource established in 2013.
Adam Phillippy @aphillippy
16K Followers 918 Following Finished a human genome, working on a few more 👨💻 Posts are my own
MOOC - Introduction t... @MOOCBiG
158 Followers 440 Following Discover genomic medicine, bioanalysis and bioinformatics ! | @AnddiRares @ERNIthaca @UNESSfr @SFMPP_ @lpiparis_ @bioinfodiag
APHMG @APHMG1
170 Followers 50 Following The APHMG is a group of educators who serve in leadership roles for medical school, residency, and lab fellow education in genetics.
Robert Thompson, MD @RMThompsonMD
92 Followers 116 Following Genetics & Metabolism Fellow in the Harvard Medical School Genetics Training Program / Neurogenetics and Gene Therapy Fellow at MGB. Opinions my own.
Anne O'Donnell-Luria @AnneOtation
1K Followers 316 Following Rare disease researcher and clinical geneticist using massive genomic datasets to improve clinical variant interpretation & understand incomplete penetrance.
Robert C. Green @RobertCGreen
5K Followers 887 Following Physician, researcher, director of @Genomes2People, translating #genomics into improved health outcomes @BrighamWomens @HarvardMed Tweets are my own.
Nidhi Shah @NidhiPShahMD
85 Followers 251 Following Medical Geneticist @DartmouthHitch | Genomic Medicine Researcher @Genomes2People @BostonChildrens | Wife | Mom | Views my own
Ann Seman @SemanAnn
39 Followers 40 Following Genetic counselor, educator, runner, traveler, book loverTrends for United States
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