Genetic counselor. Baker. Former cheese slinger. Scotch drinker. Ultimate frisbee-er. Biker. Scrabbler. Curler. Gastronomic concierge.
Views my own. In the kitchen/ultimate fieldJoined May 2009
Screening programmes in IMD change lives but there's an appetite for more data on the impact of screening. Therefore, it's important to share work like this on:
Newborn screening for ASMD in Illinois: A single center's experience
Hickey & Baker
doi.org/10.1002/jimd.1…#ASMD
Now listening to @AdamRutherford speak on eugenics at #ASHG23 - sobering, engaging, and thought-provoking stuff. My hot takes: American exceptionalism and monogenic determinism is really effing things up.
Sometimes you attend an #ASHG23 talk where the speaker is so engaged and clearly excited about their work that it's contagious. Aron Mendiola just exemplified that in discussing Snord116 in PWS to kickoff the Epigenomics in Neurodev session.
Top takeaways from Adv Dx for Rare Diseases: AI has good yield in id'ing potential dx & now being turned towards var calling; mild pheno abound, in CdLs and in the GA4K results; genetics/genomics deserts are a thing - just b/c pts live near a genetics center, != access. #ASHG23
VUS verification and trying to manage uncertainty and confusion will become a much greater part of IMD work as genomic screening expands to an undifferentiated population.
How do we manage these ‘Very Unclear Situations”?
VUS verification and trying to manage uncertainty and confusion will become a much greater part of IMD work as genomic screening expands to an undifferentiated population.
How do we manage these ‘Very Unclear Situations”?
Calling all future human geneticists 🔬
The 2023 DNA Day Essay Contest submission site is live! Share what you think makes our genomes unique for a chance to win up to $1,000: ashg.org/dna-day/
So you are 96% likely to walk/sit by/ breathe the air of someone infected while flying. You can choose to rely only on air filtration (which helps on a running plane- NOT in TSA, boarding, etc), but this ends debate on utility of N95 use during air travel. audacy.com/wwjnewsradio/n…
Did you mail your ballot back? Check to make sure we received it. If it hasn't been accepted, you can still vote today. mnvotes.sos.state.mn.us/AbsenteeBallot…
Myriad Genetics to Submit Hereditary Cancer Risk Variants to ClinVar in 2023. The company, infamous and long derided in the genetic testing community for refusing to share BRCA1/2 variants, has decided to change its stance as part of a "strategic... ow.ly/qUcs104b1zl
Audience Q: if patient has a choice in the matter of if/types of VUS to report, what does this look like from an operational standpoint in alignment?
.
This was top of mind for me, too. 🤯
#ASHG22
1K Followers 2K FollowingImproving Healthcare Through Genomics - working together to embed Genomics into standard care for patients and families across the South West.
536 Followers 548 FollowingMedical & Biochemical Geneticist. Invested in delivering high-value care to patients and families with rare disease. Momma bear and lover of 🍦🍷🧀
613 Followers 528 FollowingAssistant Professor of Biostatistics @CPHIceland @uni_iceland. statistics/genetics/epidemiology. Likes/retweets not necessarily endorsements. Views my own.
459 Followers 818 FollowingDoctor, wife, professor, scientist. Research in the genetic disorder, mucopolysaccharidosis (MPS). Mastodon @[email protected]. Views are my own.
3K Followers 2K FollowingThe British Society for Genetic Medicine provides a forum for professionals involved in #genetics and #genomics as a clinical service and research.
39K Followers 2K FollowingGenomics, big data, open science. Director, Centre for Population Genomics at @GarvanInstitute + @MCRI_for_kids. Opinions my own.
15 Followers 86 FollowingMom, wife, genetic counselor, runner. Lover of kindness, living room dance party enthusiast, Michigan fan transplanted to Minnesota. Thoughtfully honest.
2K Followers 1K FollowingProf Emma Baple Prof Andrew Crosby & team @ExeterMed defining the genomic & molecular basis of rare diseases.
https://t.co/tOiyuM6pYT
3K Followers 3K FollowingNeuropathologist @DukePathDept #neuropath | Duke Neuropathology Fellowship Program Director | @neuropathology fan girl | Tweets/RT for education only
648 Followers 762 FollowingGeneticist & product manager #humangenetics #moleculardx #womenshealth #socialmedia Opinions stated are my own & do not reflect those of Sequins.
1K Followers 537 FollowingU of MN Associate Professor, Director of Genetic Counseling, NSGC Past President, w/ a love for travel, espresso, martinis & modern art. Views are my own.
185 Followers 363 FollowingBiochemical genetic counselor, mom to two, partner to one. Lifelong Wisconsinite. Fan of helping others and of unlimited hugs. All opinions & tweets are my own.
2K Followers 2K Followinghttps://t.co/iHQrerJwmK is home to genetic counselors worldwide. Our Twitter account has over 1,000 GC's and 400 geneticists following.
634 Followers 1K FollowingWiley Advanced Biology publishes innovative research at the intersection of the life sciences, where integrative & emerging fields of investigation form
2K Followers 3K FollowingCertified #GeneticCounselor and President & #CEO of @MyGeneCounsel. Contributor @Forbes. #digitalhealth #femalefounders #genechat #genetics #precision medicine
652 Followers 4K FollowingSaving Jewish lives is a nonprofit organization that raises awareness to all humankind on the deadly hereditary BRCA gene mutation.
476 Followers 1K Followingnée Kate Donohue. Genetic Counselor @IcahnMountSinai @SinaiGenHealth. Genetic Counseling and Bioethics Training @NUFeinbergMed. Opinions my own.
701 Followers 840 FollowingOfficial account of Columbia’s Genetic Counseling Graduate Program. We promote genetics & genomics for social justice and healthcare. #alwayslearning #HR3235
3K Followers 2K FollowingGenetic Counselor🧬 in CHI via PITT. MSL at GRAIL, Past @GeneticCouns Board Member & past @CWRUalumni Board Prez #H2P Gryffindor⚡ #BurghProud Tweets are my own
87K Followers 6K FollowingScientist who loves to read, cook, and garden. Research on airborne disease transmission, aerosol impacts on climate, air quality.
now: https://t.co/BYhxA9l7g7
1K Followers 1K FollowingDeactivated, plusgreg everywhere else. Trans rights forever, BLM.
Jokes, trivia, poems, snacks. Views are my own and do not represent my employers or pets. .
7K Followers 410 FollowingPh.D. in social psychology. Former researcher in pandemic behavioral risk reduction (non-pharma intervention). Only here to keep up. @[email protected]
2K Followers 1K FollowingProf Emma Baple Prof Andrew Crosby & team @ExeterMed defining the genomic & molecular basis of rare diseases.
https://t.co/tOiyuM6pYT
536 Followers 548 FollowingMedical & Biochemical Geneticist. Invested in delivering high-value care to patients and families with rare disease. Momma bear and lover of 🍦🍷🧀
31K Followers 218 FollowingScientist. Infectious disease modeler. Tweets and spelling mistakes are my own
Models and analysis seen on @Newsweek @Fortunemagazine @FaceTheNation @TIME
312 Followers 167 FollowingThe Department of Neurology in the @umnmedschool is dedicated to outstanding education & training, opportunities for research, and world-class patient care
89K Followers 662 FollowingFather, physician, author of Crisis and Chaos, Purdue University Distinguished Professor, Former IN Health Commissioner and 20th US Surgeon General
416 Followers 142 FollowingMolecular and GI pathologist. Assoc director, BWH Center for Advanced Molecular Diagnostics. @BrighamWomens @BWHPath @DanaFarber @harvardmed Views are my own.
268 Followers 249 FollowingAs an MD-PhD student at @GeiselMed @Dartmouth, I am pursuing a career as a physician-scientist in the field of Medical Genetics.
459 Followers 818 FollowingDoctor, wife, professor, scientist. Research in the genetic disorder, mucopolysaccharidosis (MPS). Mastodon @[email protected]. Views are my own.
405K Followers 8K FollowingTexas Medical Center (TMC) Professor-Vaccine Scientist-Author; Member, Philosophical Society of Texas and TAMEST; Dallas Morning News Texan of the Year 2022
12K Followers 6 FollowingFrom @mrmikewozniak @henrypaker & @benpartridge. Each week the three beans tackle a different theme, suggested by the listeners. [email protected]
242K Followers 289 FollowingChair, UCSF Dept of Medicine. Career: What happens when a poli sci major becomes an academic physician. Author: "A Giant Leap" (2026). Hubby/Dad/Grandpa/Golfer.
17K Followers 414 FollowingBringing people, science, and compassion together to solve world problems and protect health. Let's #EndThisPandemic together.
2K Followers 1K Following@[email protected],https://t.co/VQyyqpMf93. Assoc Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics
862 Followers 278 FollowingLead Bioinformatics Research Scientist @StJudeResearch | Pediatric Cancer Predisposition | Alumnus: @BCMHouston | Views are my own | Also cricket!
3K Followers 2K FollowingThe British Society for Genetic Medicine provides a forum for professionals involved in #genetics and #genomics as a clinical service and research.
24K Followers 8K FollowingChemistry. ChemEng. Advocate for shared air mitigations. FFP3/N95 masks, ventilation, Far UV. An extremist (apparently) as I want Public Health back #Spaceshost
2K Followers 152 FollowingA casual event for puzzle lovers on the second Tuesday of every month. Will solve for beer! (Puzzle authors & new city hosts always welcome; e-mail us for info)
9K Followers 628 FollowingOlympian & lover of the outdoors. 3rd for @teamshuster + @TeamUSAMXD #MiraclesHappen #ProjectJoy 📸IG - chrisplys -inquiries:[email protected] - most fun wins
483 Followers 563 FollowingFood + features boy about town @PioneerPress. Sometimes I tell jokes to mics. Newsletters @FoodTank. Before, cheesemonger + kids’ food @GastronomyatBU + @Mizzou
57K Followers 3K Following| Associate Professor of Physiology @BondUniversity Medical School | 🌐 Director of Dr Matt & Dr Mike’s Medical Education | YouTuber 📺 | Podcaster 🎙️
No recent Favorites. New Favorites will appear here.