MyGene2 @MyGene2
https://t.co/ZmrBISa3Kc - Uniting families, clinicians, and researchers for rare disease discovery mygene2.org Seattle, WA Joined August 2015-
Tweets313
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Followers543
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Following100
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Likes149
How has @helenwsantoro lived a normal life while missing a major part of her brain? This is a fascinating story.
Calling #RareDisease patients and families — here's a chance to share your insurance denial stories with investigative journalists and hopefully generate some change 👇 @NeenaNizar @lukebrosen @kat_atchley @SLC6A1_Mom @OnceUponAGene @RarePOV @jerryw1976 @LostTexanInGA @Manuel94
The good people at @propublica are putting together a project about health insurance denials. They are collecting stories. They came to the right corner of twitter for stories. You can tell yours at the link below. propublica.org/getinvolved/in…
SCOOP: Top antiabortion leaders and GOP lawmakers have been meeting behind the scenes to strategize for a national abortion ban, mobilizing around a proposal that would outlaw the procedure at 6 weeks. Here’s what I’ve learned about their plans 🧵washingtonpost.com/nation/2022/05…
@platzer_k @GeneMatcher @MatchMExchange @Solve_RD @decipher_wtsi @PhenomeCentral @PhenomCentral MyGene2 does not allow gene-only submissions for this reason.
@platzer_k @GeneMatcher @MatchMExchange @Solve_RD @decipher_wtsi @PhenomeCentral The @MatchMExchange protocol already supports gene name + inheritance + phenotype and almost all nodes of MME incl @MyGene2 @GeneMatcher @decipher_wtsi @PhenomCentral @Solve_RD support those… but most users don’t bother/don’t want to submit
Check out the new issue of AJMG part C, a special issue entitled "Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme" (guest editors: Drs. Angela Lin, Giovanni Neri, @chayasays. onlinelibrary.wiley.com/journal/155248… 1/2
Awesome work on the practices, benefits, and challenges of social media use among parents of children with undiagnosed diseases.
The good people at @propublica are putting together a project about health insurance denials. They are collecting stories. They came to the right corner of twitter for stories. You can tell yours at the link below. propublica.org/getinvolved/in…
Our paper on global public attitudes towards genomics and data sharing. We need to take urgent steps to authentically communicate why genomic research is necessary and how data sharing is integral to this. Outside of the genomics world, no one knows this! cell.com/ajhg/fulltext/…
Next week marks Maggie’s 6th month on epalrestat. The drug is well tolerated and improving her quality of life! Maggie’s coordination, stability, speech and mobility have all improved, as shown in the before vs after videos below. Here she is sitting and reading sight words:
How is #COVID19 impacting the #RareDisease community? To find out, the @NIH-funded @rarediseasesnet developed a survey. See the responses so far with our interim results dashboard: rarediseasesnetwork.org/survey-results…
@younghe57 We encourage her to create a MyGene2 profile with her genetic information and link to her Facebook page from it. FB pages are not great for families and researchers who need to search and compile info across multiple patients
Family with de novo frameshift in QRICH1 looking to connect with others sharing candidate gene! mygene2.org/MyGene2/family…
Please don't hesitate to contact us! [email protected]
The @UW @Dohertylab is looking to collect info about anyone with JS who has tested positive for coronavirus so they can learn more about how it affects people with JS/give us better recommendations. If that's you or your child, you can help! To learn more, email joubert@UW.edu.
My hope is that #COVID shifts our culture and mindset about data sharing once and for all. Data belongs to the patient. Data should not be hoarded for commercial gain. Data should be governed by policies that protect the patient. Data should be used for the benefit of all.
Its finally out: Tackling the big gap of knowledge for most rare disorders -> Our incidence estimate for hundreds (to thousands) of de novo variant associated disorders. Open access of course: academic.oup.com/brain/advance-… @CCLRI @ClevelandClinic
Tomorrow, we celebrate everything that makes our community special. Show the world how you celebrate #WRDD2020, be sure to tag us in your posts. globalgenes.org/world-rare-dis…
You can help researchers and other families with #RareDisease by sharing your genetic variants and symptoms so others can learn from them. Our site helps you know what to share and helps you connect: mygene2.org
The @UW @Dohertylab is looking to collect info about anyone with JS who has tested positive for coronavirus so they can learn more about how it affects people with JS/give us better recommendations. If that's you or your child, you can help! To learn more, email joubert@UW.edu.
A big week ahead in the #RareDisease community... #RareDiseaseDay2020 🦓🧬
@NIH MyGene2.org for openly sharing variant/gene and phenotype data so everyone can benefit!
Check out the results of our X-Linked Carrier Survey. This is the largest and most comprehensive carrier study to date, with 433 respondents from over 18 different x-linked disease groups! #retweet
1/ This is our daughter Tess. She just turned 10. For her whole life, she's been almost entirely nonverbal. This thread is about her issues and how we're helping her communicate. Please SHARE / RT. #nonverbal #autism #USP7
Effie Parks @OnceUponAGene
7K Followers 4K Following Rare Disease Advocate | Award Winning Podcaster | Speaker | Captain Connection | RareMama to my sweet, Ford, who lives with #CTNNB1 🦓
Jessica Chong @jxchong
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
Clement Chow @ClementYChow
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Dr. Heather Mefford @... @hcmefford
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Gemma Carvill, PhD @CarvillLab
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RARE Revolution Magaz... @RareRevolutionM
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Sam Alexandra Rose @writersamr
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NCBRS Worldwide Found... @ncbrsfoundation
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SoniyaFit @SoniyaFit
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Mary Overfield @mary_overfield
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Javi Botella @javi_iup
1K Followers 2K Following Postdoctoral Researcher @Unil - Research interests in Mitochondria, Innate Immunity, Metabolism & Exercise
lou b kirk @leg.it.lo... @lou74015006
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F Bruder Stapleton @BruderStapleton
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🧬Ian Simpson🏴�... @tisimpson
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Caitlin Nichols, PhD @caitlinanichols
790 Followers 1K Following Science Program Manager @ 23andMe Lung Cancer Genetics Study | @Harvard Biomedical Sciences PhD | #lungcancer #scicomm #raredisease | Views my own
Cancer Genomics Conso... @CG_Consortium
2K Followers 3K Following The CGC represents clinical cytogeneticists, molecular geneticists, and molecular pathologists to promote best practices & education in clinical cancer genomics
Morteza Seifi @MortezaSeifi01
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ana @anasajoo
1K Followers 5K Following Genetic counsellor & Londoner. Interested in science, ethics, philosophy, kindness & humour. Opinions my own. CDN, eh (she/her)
Roberto C. Ramirez @Robejuanpa
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9 años sin diagnóst... @SGarCastellanos
96 Followers 351 Following Mamá diversa y aprendiz de la vida gracias a mi maravillosa familia!!
David Greenberg @greenbergster
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James Fasham @JamesFasham
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Jeffrey “poisedleft... @jeffreytran
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PubCaseFinder @PubCaseFinder
407 Followers 616 Following https://t.co/4Dvwe508Pf is a web-based clinical decision support system for rare diseases, operated by a public institution. #RareDiseases #DiagnosticOdyssey
Peter Goodhand @peter_pcg
154 Followers 45 Following
Stewie Griffin @SSSupervillain
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WSRGN @WSGSC
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SYNGAP1 Foundation @Syngap1Fnd
3K Followers 3K Following SYNGAP1 Foundation is a legacy page dedicated to preserving the work and mission of our 100% charitable nonprofit in the USA, focused on #SYNGAP1
Scarlett's GABRA1 Vil... @GABRA1Village
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retro mummy @retromummy
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DNAstack @DNAstack
1K Followers 2K Following Our mission is to save and improve lives by unlocking the power of the world’s genomics and health data through a software suite called https://t.co/UN8y6pnogY.
Trisha Kuchta, CGC @GC_Trisha
242 Followers 354 Following Licensed genetic counselor specializing in neurodevelopmental genetic conditions seeing patients in Developmental Medicine. Views are my own.
Rarity Life @raritylifemag
231 Followers 812 Following A new online publication that offers those affected by rare disease, disability & cancer the opportunity to unify & share our collective experience.
Ichilov Genetics @IchilovG
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Solve-RD @Solve_RD
2K Followers 357 Following Solve-RD is a H2020 funded flagship EU project. We will solve large numbers of rare diseases, for which a molecular cause is not known yet.
Timothy Syndrome Alli... @tsa_charity
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Jessica Chong @jxchong
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
Genetic Counselors @GeneticCouns
15K Followers 583 Following National Society of Genetic Counselors (NSGC) is the leading voice, authority and advocate for the genetic counseling profession. RT does not equal endorsement.
Illumina @illumina
96K Followers 8K Following Dedicated to advancing human health by unlocking the power of the #genome. 🧬
STAT @statnews
164K Followers 5K Following Reporting from the frontiers of health & medicine. Sign up for any of our newsletters here: https://t.co/CBx3GZBv31
RARE Revolution Magaz... @RareRevolutionM
12K Followers 7K Following Digital magazine giving a voice to those affected by rare conditions and the charities that support them. Contact us: [email protected]
Beyond the Diagnosis @BeyondtheDx
8K Followers 5K Following Beyond the Diagnosis unites art and science to raise awareness for children living with life-altering diseases.
CenterforChronicIllne... @CciSeattle
627 Followers 2K Following This account is no longer active. For the latest updates and to stay connected, follow the Center for Chronic Illness on Instagram or LinkedIn!
Ben Hutton @relequestual
2K Followers 3K Following Follower of Jesus, Dad and Husband, Open-Sourcer, Gamer, Board Games, Drummer, Music Lover, Cats - {@jsonschema} - @[email protected]
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1K Followers 2K Following Founder RARE-X and Founder/Former CEO of Global Genes #CareAboutRARE #raredisease. Opinions are my own.
denovo-db @denovodb
40 Followers 40 Following Current denovo-db now on Zenodo https://t.co/V6DnZcajxa Historical Site: https://t.co/KBXLJmaLrF
Erika Check Hayden @Erika_Check
8K Followers 750 Following My dream: to help you achieve yours. Director @UCSC_SciCom Science Communication Program: https://t.co/fWwnOCfAbt. she/her/hers
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Médicos Sin Marca @MedicosSinMarca
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SPARC @SPARC_NA
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National Human Genome... @genome_gov
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Stephanie M. Lee @stephaniemlee
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Seth Mnookin @sethmnookin
27K Followers 2K Following I write books and articles and am the director of @MIT_SciWrite. website: https://t.co/esRd57bkQV. Refusing to pay for checkmarks since April 2023.
NPR @NPR
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ADSG @AusDystoniaSG
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Denis Costello @rarecare
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