Grace Talbert @talbertgrace
Mother of a child with Homocystinuria due to severe MTHFR deficiency Joined May 2009-
Tweets55
-
Followers35
-
Following109
-
Likes18
@BornsteinRafael @markkaplan20 Homocystinuria can be caused by other genes as well. Severe MTHFR mentioned in the graphic is caused by true MTHFR mutations, not the two common polymorphisms.
@RameseSanders There’s roughly 40 rare mthfr mutations that cause a rare metabolic condition called homocystinuria. These are true mutations. The two common mthfr variants do not cause homocystinuria.
@honeybadgerleo @RobertKennedyJr Are you saying that mthfr should be added to the newborn screening panel? That is where PKU is screened. What marker would they check for if it was added to newborn screening?
Great poster! No more MTHFR testing - clinical genetics most hated gene (except for in homocystinuria). To understand the problem I give you the “MTHFR challenge” try to do a search in PubMed for any disease and MTHFR that doesn’t return an association.
@hormonedietdoc My daughter (3) has high homocysteine. It’s over 70.
@TheYueLab @NatureComms @nubiosciences @allostericstate @LinneaBlomgren @FroeseLab Exciting news! As the mother of a 3 year old with Homocystinuria due to severe MTHFR deficiency, I’m curious how this knowledge can impact future treatments.
@RMorgayne11 @helt_helt @stopvaccinating My daughter has the rare mutations. We used a genetic test through her geneticist.
@helt_helt @RMorgayne11 @stopvaccinating If you have one or both, they’re still just considered variants.
@iamlisakirk @stkirsch That could be possible.
@iamlisakirk @stkirsch It’s possible to have low b12 and folate without having an mthfr gene variant.
@iamlisakirk @stkirsch “Results suggest a potential association between inherited MTHFR gene mutation and severe form of COVID-19, thromboembolic events, and mortality.” Nothing definitive.
@iamlisakirk @stkirsch Neither of those 4 papers had any mention of MTHFR. I don’t see any evidence backing your claim that “Covid outcomes were most severe in patients with MTHFR mutation.”
@iamlisakirk @stkirsch The paper you linked said there wasn’t enough data to make any firm conclusions…. My daughter has rare mthfr mutations; her homocysteine is 70+. Her symptoms were so minor when she had Covid. She only had a slight runny nose.
@JPSinger22 @SinclairArt @IamSean90 Early treatment is life changing. Untreated severe MTHFR can be life threatening.
@JPSinger22 @SinclairArt @IamSean90 In some states, it is a part of the newborn screening.
@cantab_biker @acweyand I can see molecular testing to confirm a diagnosis. For my daughter, homocysteine and methionine was checked first, and then a genetic test was used to confirm her homocystinuria due to severe mthfr deficiency diagnosis.
@cantab_biker @acweyand Another way to rule out classical HCU is to check methionine. Classical HCU has high homocysteine and high methionine. Cobalamin and severe MTHFR type HCU both have high homocysteine and LOW methionine.
@HemoGirlsRock @acweyand What do you consider as high?
It's Rare Disease Week 2024 - let's shine a 🔦 on severe MTHFR! #RareDiseaseWeek2024 #RareDiseaseWeek #RareDiseaseDay2024 #RareDisease #homocystinuria #HCU #severeMTHFR #metabolicdisorders #HopeConnectsUs
James Hodcroft (The O... @jameshodcroft
19K Followers 21K Following Academic Researcher, Actor, Award-winning screenwriter, Journalist, Exposing blackmail, fraud & stalking.. #MTHFR & #ADHD. Formerly #Homeless. I’m “Relentless”.
MTHFR Support™ @MTHFRSupport
3K Followers 438 Following MTHFR Support™ is to help all of us with genetic mutations, access genetic reports and link with health practitioner's using epigenetics, and nutrigenomics.
Patient Worthy @PatientWorthy
8K Followers 7K Following We're a resource for engaging, informative content and rare patient news, well done.
Curtis Coughlin II @CoughlinIi
265 Followers 367 Following Scientist | Bioethicist | Genetic Counselor
Saima khan @Saimak55
1 Followers 25 Following
HCU Network America @HCUAmerica
720 Followers 948 Following The mission of HCU Network America is to help patients with #Homocystinuria and related disorders manage their disease and to find a cure. #HCUNetworkAmerica
Keiondre @KeiondreP13
68 Followers 261 Following
Shainaskinderworld @KinderWorldNow
105 Followers 116 Following Super-rare kid building a kinder world. #BPAN #NBIA
Beacon for Rare Disea... @RareBeacon
12K Followers 10K Following Beacon is a UK-based charity that is building a united rare disease community with patient groups at its heart. Previously known as Findacure.
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 🦓
ha @Mohamed97466855
60 Followers 1K Following
Bsmooth @Bsmooth4
2 Followers 97 Following
Jess Del @JessWigNessi
28 Followers 672 Following
noMermaid_ @I_am_Aeri_
33 Followers 154 Following SINGLE.. MommyofKholton&Micah Sucker4Love❤️..MSUBulldogs.. #HailState
Adrianne Morgan @adrianne_morgan
14 Followers 19 Following
Up5Nothing @up5_nothing
368 Followers 429 Following Happiness can be found even in the darkest of times. If one only remembers to turn the lights on. -Albus Dumbledore
Brittney Fish @brittneyfish1
238 Followers 358 Following Even on my worst days,, I look better than you
_iim_different_ @Beautiful_Feirr
440 Followers 1K Following #Lovebeingmyselfifudontlikefallbak.,,#TeamPuttingGod1ST#TeamScorpio#TeamSINGLE#TeamCollegeGrad#TeamCollegeStudentFuture RN/SurgicalTech#TeamIDGAF#TeamKeepitreal
Cheyenne Turnage @chey_reno
103 Followers 317 Following
kellee cumpton @kelleecee_7
97 Followers 463 Following 23. Football & Soccer. Just a Southern Girl. NOLA, MS & Fl
Jeremy Cumpton @jeremycumpton
37 Followers 134 Following Hot college guy with WAY too high of a self esteem
nick roberts @WOMnick
56 Followers 260 Following
Garrett Crawford @Porkchop5509
50 Followers 99 Following I'm porkchop. I work at Ingalls Shipbuilding.
Katye D. @SkydiverKamdg
90 Followers 1K Following
Adisti Bramanti @adistibram5677
68 Followers 765 Following
Nephi Walton @geneticks
161 Followers 256 Following Clinical Geneticist, Bioinformaticist, Recovering Programmer, Writer, Science Lover, Anatomical Oddities, Nerd, Dad, @WakeForest, Opinions are my own
vonmeyennlab @vonmeyenn_lab
166 Followers 43 Following Official account of the von Meyenn lab @ ETH Zurich. We aim to understand the molecular relationship & interplay between nutrition, metabolism & the epigenome.
Cryonet @Cryonet
29 Followers 264 Following Cryonet is a new Gaming and Tech community still in it's developmental Stage. There is a place for all so if you wanna get involved let us know
Sean Froese @FroeseLab
53 Followers 47 Following Investigating inherited metabolic disorders to develop better diagnostics and treatments. @KispiZuerich. @UZH_en.
Yue Lab at Newcastle @TheYueLab
992 Followers 638 Following Prof Structural Biology @nubiosciences, @UniofNewcastle; formerly at @cmdoxford; all things metabolic enzymes, complexes, #rarediseases. Views my own.
Ferdinand von Meyenn @vonMeyenn
586 Followers 230 Following Group leader @ETH interest in the interplay between Nutrition, Metabolism and Epigenetics from whole organism to single cells
Ali Conn @Ali_Conn
418 Followers 995 Following Pediatric genetic counselor🧬 | Opinions plentiful and my own 💬 | she/her 👩🏼💻 | I want to show you pictures of my dogs 🐾
Elizabeth Varga @lizvarga
2K Followers 3K Following Dir. Clinical Genomics Research and Development; food allergy mom, advocate, runner, lover of life. Tweets = my own.
Curtis Coughlin II @CoughlinIi
265 Followers 367 Following Scientist | Bioethicist | Genetic Counselor
Susan Berry @BerryS730
940 Followers 1K Following Medical Genetics, especially inherited disorders of metabolism. Tweets are personal. @IBEMC1 @NBSTRN @MNAAP @Region4Genetics #tweetiatrician #NewbornScreening
Jessica Priestley, MD... @MommasaurusJess
522 Followers 542 Following Medical & Biochemical Geneticist. Invested in delivering high-value care to patients and families with rare disease. Momma bear and lover of 🍦🍷🧀
Teo Jerves, MD, FACMG @teojs11
124 Followers 96 Following Clinical and Biochemical Geneticist 🧬🩺🧪 @YaleGenetics / 🇪🇨🇺🇸 / 🏎 F1 enthusiast 🗺 voyager. Views are my own
Emily Wiseman @EmilyMSGC
77 Followers 60 Following Board certified genetic counselor, medical science liaison, hyperactive dog mom, runner, lover of buffalo wings and archaeology. Views are my own
Rebecca Ganetzky @ganetzky1
176 Followers 99 Following Mito physician scientist, clinical geneticist & educator @ChildrensPhila & @CHOP_Research. Parent/Baker/Former Computer Scientist & All-around nerd
Anna C.E. Hurst, MD @acedens
853 Followers 630 Following Diagnosing rare disease with genomes, dysmorphology & coffee. MD Geneticist at Univ. of AL at Bham. Genetics residency PD. Tweets are my own. She/her
Olivia D’Annibale, ... @ODAnnibalePhD
77 Followers 101 Following Clinical Biochemical Genetics Fellow, Human Genetics PhD, trying to help the kiddos with metabolic disorders 🔬🧬🧪
sarah.e.donoghue @sarahedonoghue1
214 Followers 195 Following Paediatrician, Clinical Geneticist, Metabolic Physician. PhD candidate Determined to improve diagnosis and treatment of genetic diseases. Views are my own.
Coriell Institute @Coriell_Science
1K Followers 768 Following Nonprofit research institute and biobank. Recognized as the world’s leading biobank, pioneer in genomic discovery, & expert in the field of stem cell research.
HCU Network America @HCUAmerica
720 Followers 948 Following The mission of HCU Network America is to help patients with #Homocystinuria and related disorders manage their disease and to find a cure. #HCUNetworkAmerica
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]
EURORDIS-Rare Disease... @eurordis
31K Followers 1K Following An alliance of over 1,000 patient organisations working across borders and diseases to improve the lives of all people living with rare diseases.
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.
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 🦓
Global Genes @GlobalGenes
29K Followers 6K Following Empowering the Next Generation Rare Disease Advocate. Merged with RARE-X Dec. 2022. #CareAboutRare
Rare Disease Day @rarediseaseday
42K Followers 3K Following 28 February 2027 is Rare Disease Day. Raising awareness for patients, families and carers around the world that are impacted by rare diseases. #RareDiseaseDay
Patient Worthy @PatientWorthy
8K Followers 7K Following We're a resource for engaging, informative content and rare patient news, well done.
Beacon for Rare Disea... @RareBeacon
12K Followers 10K Following Beacon is a UK-based charity that is building a united rare disease community with patient groups at its heart. Previously known as Findacure.
AllStripes @_allstripes
3K Followers 1K Following Our mission is to unlock new treatments for people affected by rare disease.🚀
National Organization... @RareDiseases
40K Followers 3K Following #NORD has been the voice of the U.S. #RareDisease community for 40+ years strong. Official U.S. sponsor of #RareDiseaseDay. On Bluesky at @ https://t.co/D7PIT4k0Py
Ellen Crushell @ECrushell
1K Followers 362 Following Paediatrician (Metabolic) @CHI_Ireland Deputy CMO @roinnslainte Clinical Prof @UCDmedicine
BIMDG @BIMDG
1K Followers 313 Following Twitter account for British Inherited Metabolic Disease Group. Tweets by Dr James Nurse (@drjnurse) and Dr Rachel Carling (@rachblacklabel).
MTHFR Support™ @MTHFRSupport
3K Followers 438 Following MTHFR Support™ is to help all of us with genetic mutations, access genetic reports and link with health practitioner's using epigenetics, and nutrigenomics.
The Journal of Inheri... @JIMD_Editors
3K Followers 815 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.
Jeff Piotrowski @Jeff_Piotrowski
88K Followers 3K Following Emmy Award-Winning Storm Chaser over 45 years. Tesla-Cybertruck https://t.co/PGwz0k2Ojz Sales-API Weather Data & Radar & TEDx Speaker. and Home Builder.
John Legere @JohnLegere
5.2M Followers 413 Following Lover of all things slow cookers, golf, NFTs, Batman, and magenta! Ex-CEO @TMobile
DEON COLE @deoncole
126K Followers 316 Following “Funny Knowing You” on my YouTube page and for all show tickets click the link
DailySexSupply 📦 @DailySexSupply
1.1M Followers 59 Following Your daily supply of the best adult content on Twitter. Subscribe to our FREE Onlyfans below 👇
Ocean Conservancy @OurOcean
400K Followers 3K Following Celebrating more than 50 years of creating evidence-based solutions for a healthy ocean and the wildlife and communities that depend on it. Founded in 1972. 🐠
Up5Nothing @up5_nothing
368 Followers 429 Following Happiness can be found even in the darkest of times. If one only remembers to turn the lights on. -Albus Dumbledore
MyFWC @MyFWC
52K Followers 2K Following Official page for Florida Fish and Wildlife Conservation Commission. Violations against our https://t.co/EAOVYzS9CS are subject to action.
Fishery USA Jobs @FisheryUSAJobs
21 Followers 0 Following All Fishery USA Jobs from http://t.co/qxsYTNv3iO
NOAA Fisheries @NOAAFisheries
57K Followers 384 Following An office of @NOAA: We conduct world-class science to support sustainable fish & seafood, protect & recover marine life, and conserve habitat.
NOAAFish_WCRO @NOAAFish_WCRO
3K Followers 774 Following NOAA Fisheries West Coast Region works to protect, conserve, and recover living marine resources and their habitats in Washington, Oregon, Idaho, & California
NOAA Research @NOAAResearch
108K Followers 242 Following NOAA Research provides the research foundation for understanding our planet through tech innovation & scientific advances. This is an official @NOAA account.
NOAA Fisheries NWFSC @NOAAFish_NWFSC
9K Followers 999 Following Our science helps protect salmon, marine fish, and orcas off West Coast. Instagram: noaafisherieswestcoast Email: [email protected] RT/follow ≠ endorse
💭 @duaIipastan
22K Followers 30 Following
Morgan Turnage @morganann_cu
85 Followers 123 Following Married. 2 perfect babies. Chopped addiction. Happy&Blessed.
Alyssa @alyssables
190 Followers 525 FollowingYou might like
