Heidi Grabenstatter @PatientIntv
RDCA-DAP Scientific Director @CPathInstitute, patient advocate, neuroscientist, and proud mom. Opinions are my own. Colorado Joined March 2017-
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@currentClamp Congratulations, Brennan!
This tragedy is exactly why law enforcement agencies and all first responders must have mandatory seizure response training. As a first responder myself, and seeing the body cam footage, it’s clear that this police response was irresponsible and criminal. My heart breaks for this family.
Epilepsy Foundation of America Statement on the Death of Rhyker Earl
In a pre-competitive, neutral environment, the Task Force members are dedicated to advancing drug development tools through collaboration and data sharing to inform future clinical trials.
Today is the 10th anniversary of #LimbGirdleAwarenessDay, and it's my pleasure to announce @CPathInstitute's launch of a new Task Force uniting the trailblazing researchers, patient advocates, and industry partners determined to work together to overcome unmet needs of LGMDs.
C-Path to lead Task Force on #limbgirdle #musculardystrophy. Details: bit.ly/4eoDuuO
One week ago today, I had the opportunity to get "dressed up" in my tuxedo and received the Arthur Ashe ESPY Award for courage. It remains a sublime honor, given that Arthur Ashe exemplified courage as living with an open heart of humility, kindness, and generosity that united humanity. With that in mind, do we have the courage to unconditionally love our neighbors, our so-called enemies, and love ourselves? “The more you are motivated by love, the more fearless and free your action will be.” Dalai Lama
I'm the mom of a child with an incurable, catastrophic epileptic syndrome. If you are a researcher, doctor, or advocate, and someone on the internet is making you feel unwelcome in the disease area you are currently in, you are MOST WELCOME to come work on epilepsy. 1/
Here’s a real, raw #RareDiseaseTruth: the total mess and heartbreak of life with these diseases. It’s not all cute pictures and victories. During a scary 30 minutes sitting in the ambulance with our daughter, as the rig started driving us to the hospital, I looked out the window and saw my son helpless and crying on the street watching the ambulance drive away with his sister inside. That was devastating. And tough. But so is he.
Failures may be the greatest teacher we neglect to study. Going further, perhaps we should share failed clinical trials with centralized and standardized methods to inform future studies.
Addressing the problems of treatment failure in epilepsy: You cannot fix what you do not understand doi.org/10.1111/epi.18… #epilepsy #ILAE #drugresistance #mechanisms #therapydiscovery #treatment @IlaeWeb @epilepsiajourn @WileyNeuro
@mary_overfield Mary, I am so sorry to learn of this devastating loss. Sending you and your family my love and deepest condolences.
Some are blessed with unmistakable talent in their fields, others' best skill is the ability to pick themselves up, dig in, and take on unfamiliar territory after failing. Give me the less talented, unstoppable force as a teammate. They know how to win.
Confidence doesn't always come from believing in yourself today. It often stems from recalling the obstacles you overcame yesterday. A history of resilience can silence self-doubt. Challenges conquered are clues to hidden strengths. Past progress is proof of future potential.
Today, I am pleased to share more good news from the Biden Harris Administration for people with #disabilities - holding airlines accountable to people using wheelchairs! #disabilityinclusion
Congratulations Dr. Maurizio Giustetto, 2023 Million Dollar Bike Ride Awardee - cdkl5.com/blog/congratul… 🩷🩷🩷🩷🩷🩷
@Phelan_McDermid released 2024 funding opportunities today. RFAs include: Innovator Award for young investigators, Translational Research Award, and the Shannon O’Boyle Memorial Grant to explore neuropsychiatric illness. LOIs due 3/1. Find more info here: pmsf.org/for-researcher…
Congratulations @MaurizioGiuste1 lab! @CDKL5_IFCR and the #CDKL5 community look forward to the team's continued progress exploring extracellular vessicle-mediated cell-to-cell communication in CDD.
Congrats to the 2023 #MDBR grant awardees! Thirty-eight projects were funded with $2.4M raised for 31 #rarediseases. Thank you to our MDBR community for their fundraising & commitment to the cause. See the complete list of projects here: orphandiseasecenter.squarespace.com/mdbr-2023-gran…
Researchers at @TheCrick , @ucl & Merck have identified a potential treatment target for a genetic type of epilepsy incl CDKL5 deficiency disorder (CDD). They identified a calcium channel, Cav2.3, as a target. Merck & The Loulou Foundation funded crick.ac.uk/news-and-repor… the research
I am so excited about this new partnership between @LGS_Foundation @RareDiseases and @CPathInstitute. Thank you @US_FDA for funding this vital work to advance #LennoxGastautSyndrome research!
The @LGS_Foundation is one of two groups selected to start an IAMRARE registry and submit data to RDCA-DAP, a big step forward for #LennoxGastautSyndrome research! RDCA-DAP is a collaboration between NORD, @CPathInstitute and @US_FDA Learn about IAMRARE: bit.ly/46Nkykz
💻Free webinar opportunity: “Rare aware: What you need to know about Infantile Spasms.” Join the Epilepsy Foundation in partnership with the Rare Epilepsy Network for a webinar on Monday, December 11th at 1pm ET. 1/2
New online! Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes go.nature.com/3sNkqnh
My husband, @ProfRyanRussell has been battling cancer for 17 months Today, we officially had to start hospice Our hearts are broken. Yet on his 41st birthday last week, I got to tell Ryan his dream came true- he officially is a published author ❤️ a.co/d/fodmKrd
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 🦓
The Notorious EEG (M.... @TheNotoriousEEG
10K Followers 2K Following Epileptologist/Head of Neurosciences @cookchildrens, I 💜 #HailState, buffalo wings, art, music & foremost Becky & my daughters. Views are mine, not my employer
Torie Robinson 🇺�... @TorieRobinson10
6K Followers 2K Following @EpilepsySparks Insights Podcast Host & YouTuber 🧠🧬 | International Speaker | #Epilepsy & #MentalHealth Research fiend | @MaudsleyNHS Gvnr | All views my own
Tracy Dixon-Salazar @TracyDixonSalaz
3K Followers 917 Following Neuroscientist who found the drug that gave her daughter years. Now writing the book nobody gave her. CEO @lgsfoundation
Luke Rosen @lukebrosen
2K Followers 422 Following Founder of https://t.co/GkrwXhfkoy and https://t.co/eWtcezWeJc. Firefighter. Works with families affected by neurological diseases and cancer. Baseball and hockey. Proud dad.
Mike Graglia 🌻 @JMGraglia
7K Followers 2K Following CEO @cureSYNGAP1 🧬 Pod https://t.co/9jkDkMg5R8 🎧 Alum @GonzagaU @peacecorps @pdosoros @SAISHopkins @Columbia_Biz @IFC_org @bcg @gatesfoundation @newamerica
Ethan Perlstein 1-to-... @eperlste
19K Followers 2K Following ceo @1000cures, ceo @PerlaraPBC (w16 @ycombinator), founder @epalrestat, founder @endrarediseases, founder @smer28rapa
FamilieSCN2A @FamilieSCN2A
2K Followers 1K Following Our vision is to find effective treatments and a cure for SCN2A disorders.
Neena Nizar @NeenaNizar
2K Followers 2K Following Founder & Executive Director of The Jansen's Foundation. KOL,TEDx Speaker, Educator, Change Leader, https://t.co/Ty1g3WHftT Opinions are my own
Brian Wallach @bsw5020
142K Followers 3K Following Dad, husband, activist, entrepreneur, unlikely movie star, living with ALS, a currently fatal disease. #ALSisHere #SoAreWe
American Epilepsy Soc... @AmEpilepsySoc
15K Followers 772 Following We support research and education for professionals working towards a world without epilepsy. RTs ≠ endorsements. Also @amepilepsysoc.bsky.social.
Prof Ingrid Scheffer @ingridscheffer
3K Followers 625 Following Laureate Professor of Paediatric Neurology at @unimelb, @theflorey, @austin_health, @RCHMelbourne. Research epilepsy, classn, genetics, speech & mentorship
Dr. Heather Mefford @... @hcmefford
3K Followers 879 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
CDKL5 - IFCR @CDKL5_IFCR
1K Followers 601 Following 501(c)(3) dedicated to advocacy, research & cures for #CDKL5 Deficiency Disorder - a Developmental & Epileptic Encephalopathy (DEE). Formerly used @CDKL5_USA
CACNA1A Foundation @cacna1a
2K Followers 2K Following Nonprofit dedicated to a brighter future for those with CACNA1A variants. On a mission to fund life changing research while supporting families along the way.
AGE Program - Adult G... @DrDaniAndrade
2K Followers 660 Following Professor of Neurology @UofT. Director, #AdultGeneticEpilepsy Program @UHN. Chair of @IlaeWeb #TransitionTaskForce #EpilepsyGenetics #neurotwitter
Becky Sansbury @AftrTheShock
3K Followers 2K Following Emotional Support Specialist | Rare Disease | Palliative Care | Author of "After the Shock" | former hospice chaplain | always a mom
KIF1A.ORG @KIF1A
1K Followers 579 Following We connect families affected by KIF1A and relentlessly work to accelerate research. We need to find treatment for this rare neurodegenerative disease. Fast.
Global Genes @GlobalGenes
29K Followers 6K Following Empowering the Next Generation Rare Disease Advocate. Merged with RARE-X Dec. 2022. #CareAboutRare
Leah @LeahEDSCN2A
946 Followers 1K Following Founder, Executive Director and Former President of the FamilieSCN2A Foundation. Mom and rare disease advocate of epilepsy and autism, SCN2A-related disorders.
Nadine Lipworth 🪼�... @Saving_Sasha
679 Followers 250 Following On a mission to save my daughter | From One To Many | Pioneering an N-of-1 ASO | Precision medicine pipeline is the ultimate goal | No child left behind
SunshineEvelynHernand... @Wq9iZoI4d6vxJd
12 Followers 1K Following Bossing up every day. #CareerGoals
Jake Gyllenhaal @JakeGyllen41213
377 Followers 3K Following American Actor Los Angeles California Upcoming movie: The Bride, Remain Height: 1.82 m
Wesley Martinez @WesleyMart12375
950 Followers 5K Following He who is willing to humble himself the hour of success await him..???
Carlin @Carlin202010
109 Followers 618 Following
MysticCharlotteTaylor @Isoukerc54637
10 Followers 2K Following Confidence is key Creating my own path
ウォール街の侍 @Hawbear82453
37 Followers 2K Following 【完全無料】 25年の株式投資プロチーム（運用資産500億円以上）が提供：毎日の市場分析レポート ＋ 優良成長株のピックアップ。プロの情報を無料で。まずはお気軽にお問い合わせください。
Ayomide princes @woosun808
93 Followers 843 Following
Brerlar @Brerlar9098
29 Followers 955 Following
FLY88 @fly88llc
41 Followers 1K Following Fly88, based in Greater Phoenix, offers expert flight training from experienced instructors dedicated to helping students achieve their aviation goals
LAMIN BOJANG @lbojang613
312 Followers 7K Following
FOXG1 Research Center @FOXG1center
19 Followers 44 Following
JAYDEN BRADSHAE @Jaydenbradsh
171 Followers 6K Following SUAGR BABY NEEDED..DM ME +16813617012…. 🥰 WEEKLY ALLOWANCE, JUST SOMEONE TO TALK TO ON MY FREE TIME SOMEONE I CAN TRUST
guilherme scheibel @difulinonly
494 Followers 3K Following Like to meet people to make friends Care for true love Like traveling Let follow each other to get to know each other’s as friends🇧🇷🇺🇸🇧🇬🇦🇱🇽🇰🇸🇮🇧🇬
MamaLewis @anice00
3K Followers 8K Following Loving, loud-mouthed, sarcastic, Gen-X supporting, stage 3 surviving, common sense having, SN advocate! 🇺🇸
James Williams @JamesWilli27887
80 Followers 244 Following I'm single looking for long term relationships on here
Scott William @ScottWilli6432
325 Followers 7K Following
Pletairs @PletairsYhJ_8c
40 Followers 5K Following
Hanouf 🇰🇼 هن�... @Hanouf_Juhail
348 Followers 5K Following باحثة أكاديمية ثانيا، أم لداليا و يوسف أولا 🌄💆♀️🪂🚵♀️ #autismMom #طيف_التوحد @TeachersCollege @Columbia @CUBoulder @UCLAPEERS Alumna 🎓🐿️
Christy @SusanBa53774289
834 Followers 3K Following Jesus Follower,Prophetic Watcher,Mom of 4 Warriors,Yaya of 2,Patio Gardener,Coffee Drinker,Caretaker of Adult Children w/UCD (Citrullinemia1),Southern Aged Lady
Rareatives @rareatives
114 Followers 492 Following Share Your Rare | Amplifying Rare Disease Voices 🎙️ 📖 Sharing stories from the 1 in 10 🧬 New patient-led publication #RareDisease #PatientVoicesMatter
Adrien Agoston @adrien_ago88978
198 Followers 3K Following I am a sincere person, faithful, loving, caring, reliable, respectful, sociable, I hate lies and infidelity
Chris Mathes @MathesChris
2K Followers 3K Following Ion Channel & Drug Discovery professional who develops business
Plootoa @PlootoajVitra
33 Followers 4K Following
Vicky @hidenoikum71155
76 Followers 7K Following
MoBro.co/WLyell+#PFAS... @wlyell
1K Followers 8K Following #RadicalCentrist⚖️ with #chromosome(s‽)🧬 #afire🔥, #enduring🥶 to #nurture💗 “#choice-less🤔#awareness🎗” through #coherent🔔 #dialog🗣️. Likes💞= resonance📳…
Swabhiman Pradhan🇮... @Swabhiman20
382 Followers 4K Following Man of Self Respect, TWINS, Blessed by Teachers and Parents🙏🏻, Learner and Educator in Botany 💙👨🎓🌾🍀🏏⚽
Brent inno @Brent_inno43
50 Followers 676 Following it is better to fall in originality than to succeed in imitating ❤️ I'm proud to serve 🙏❤️
Keaton Cloud @healthsolvernow
151 Followers 3K Following I'm into health, sport, and nutrition. Later on started with herbalism and supplements. Read about my experiences on my blog.
Kushol Gupta @GuptaPenn
2K Followers 5K Following Research Assistant Professor of Biochemistry and Biophysics | Univ of PA | he/him Find me at @guptapenn.bsky.social
Jarshore @JarshorezWz
77 Followers 7K Following
Book of Award @Kajal_0211
1K Followers 7K Following The "International Research Excellence Awards-Book of Award" celebrates and documents outstanding achievements in the field of research on a global scale.
McToulee @McTouleehuLx1
5 Followers 140 Following
My Genetic Meds @MyGeneticMeds
502 Followers 505 Following Pharmacogenomic DNA Testing: Utilizing next generation sequencing to optimize medication based on YOUR genetics because Access Starts With YOU! KB Companies LLC
Samuel Mackenzie MD P... @NotoriousEMG
854 Followers 786 Following Pediatric #neuromuscular doc, amateur scientist @URneuroscience, runner, chess enthusiast, dad. #Meliora
Jayanta @IngleJayanta
21 Followers 585 Following
Runairshir @RunairshirSsJ
98 Followers 3K Following
Kevin Costner @costn79454
6 Followers 241 Following
Rare Disease Research... @the_rdrn
37 Followers 272 Following A new, inclusive, online hub facilitating patient-initiated #raredisease research. #NIHR funded, co-created by the rare disease community, #CamRARE & #PLRH.
Marc Dos Santos, phd @MarcDosSantos3
112 Followers 243 Following Neuroscientist, Postdoc @ Penzes lab , Chicago. multiomics- live microscopy-brain circuits development
Kevin Costner @KevinCostn20426
14 Followers 212 Following
Barbara Drake @barbara_drake
88 Followers 878 Following Rare Disease Research Advocate & Medical Momma. 17q21.31. KDVS. Athlete, Yoga, & Outdoor Enthusiast!
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 🦓
The Notorious EEG (M.... @TheNotoriousEEG
10K Followers 2K Following Epileptologist/Head of Neurosciences @cookchildrens, I 💜 #HailState, buffalo wings, art, music & foremost Becky & my daughters. Views are mine, not my employer
Ana Mingorance @CNSdrughunter
3K Followers 1K Following 🧠 🧬 Neuroscientist. Looking for new medicines for CDKL5, SCN1A, SHANK3, DHPS and a few others. @cnsdrughunter.bsky.social
Dennis Lal @LalDennis
3K Followers 319 Following Director of the Center for Neurogenetics; Associate Professor at UTH - Neurogenetics & Informatics - My opinions are my own & do not reflect my employer.
Torie Robinson 🇺�... @TorieRobinson10
6K Followers 2K Following @EpilepsySparks Insights Podcast Host & YouTuber 🧠🧬 | International Speaker | #Epilepsy & #MentalHealth Research fiend | @MaudsleyNHS Gvnr | All views my own
Tracy Dixon-Salazar @TracyDixonSalaz
3K Followers 917 Following Neuroscientist who found the drug that gave her daughter years. Now writing the book nobody gave her. CEO @lgsfoundation
Ingo Helbig @IngoHelbig
3K Followers 381 Following Child Neurologist, epilepsy genetics researcher, blogger
Luke Rosen @lukebrosen
2K Followers 422 Following Founder of https://t.co/GkrwXhfkoy and https://t.co/eWtcezWeJc. Firefighter. Works with families affected by neurological diseases and cancer. Baseball and hockey. Proud dad.
Mike Graglia 🌻 @JMGraglia
7K Followers 2K Following CEO @cureSYNGAP1 🧬 Pod https://t.co/9jkDkMg5R8 🎧 Alum @GonzagaU @peacecorps @pdosoros @SAISHopkins @Columbia_Biz @IFC_org @bcg @gatesfoundation @newamerica
Ethan Perlstein 1-to-... @eperlste
19K Followers 2K Following ceo @1000cures, ceo @PerlaraPBC (w16 @ycombinator), founder @epalrestat, founder @endrarediseases, founder @smer28rapa
CURE SYNGAP1 aka SynG... @cureSYNGAP1
11K Followers 1K Following #SYNGAP1 🧬 = 🧠NDD DEE causing #Epilepsy #Autism #ID #Sleep #GI. Incidence = 6️⃣.1️⃣/💯k ICD10 https://t.co/4UJNF5bKTl https://t.co/pjCrzqlbV7 🎙
FamilieSCN2A @FamilieSCN2A
2K Followers 1K Following Our vision is to find effective treatments and a cure for SCN2A disorders.
Neena Nizar @NeenaNizar
2K Followers 2K Following Founder & Executive Director of The Jansen's Foundation. KOL,TEDx Speaker, Educator, Change Leader, https://t.co/Ty1g3WHftT Opinions are my own
International League ... @IlaeWeb
12K Followers 614 Following A preeminent association of healthcare professionals & scientists working toward a world where no person's life is limited by epilepsy. RTs are not endorsements
Brian Wallach @bsw5020
142K Followers 3K Following Dad, husband, activist, entrepreneur, unlikely movie star, living with ALS, a currently fatal disease. #ALSisHere #SoAreWe
American Epilepsy Soc... @AmEpilepsySoc
15K Followers 772 Following We support research and education for professionals working towards a world without epilepsy. RTs ≠ endorsements. Also @amepilepsysoc.bsky.social.
Prof Ingrid Scheffer @ingridscheffer
3K Followers 625 Following Laureate Professor of Paediatric Neurology at @unimelb, @theflorey, @austin_health, @RCHMelbourne. Research epilepsy, classn, genetics, speech & mentorship
Dr. Heather Mefford @... @hcmefford
3K Followers 879 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
Stéphane Auvin @stephane_auvin
2K Followers 817 Following Child Neurologist & Epileptologist. Professor at @univ_paris_cite. Dept Chair at @HopRobertDebre. Senior member 2021 @InstUnivFr. Deputy Editor @EpilepsiaJourn
CDKL5 - IFCR @CDKL5_IFCR
1K Followers 601 Following 501(c)(3) dedicated to advocacy, research & cures for #CDKL5 Deficiency Disorder - a Developmental & Epileptic Encephalopathy (DEE). Formerly used @CDKL5_USA
City of Glendale, CA @MyGlendale
20K Followers 767 Following The official X profile for the City of Glendale. #MyGlendale
FEDER | Enfermedades ... @FEDER_ONG
39K Followers 8K Following 👉🏻 Somos la esperanza de 3 millones de personas con #enfermedadesraras 🍀 Representamos a 469 organizaciones de pacientes y a 1.546 patologías poco frecuentes
Rareatives @rareatives
114 Followers 492 Following Share Your Rare | Amplifying Rare Disease Voices 🎙️ 📖 Sharing stories from the 1 in 10 🧬 New patient-led publication #RareDisease #PatientVoicesMatter
Laura Becker🐦�... @LauraBeckerReal
59K Followers 2K Following Based Coach ❤️🔥 Ex-Trans, Pro-Reality Help for Families 💪 Surviving the Trans Myth📘Sex, Psych, Culture 🇺🇸 Funky Artist & Libertarian Hippie ☯️ DM for 1:1
Chris Mathes @MathesChris
2K Followers 3K Following Ion Channel & Drug Discovery professional who develops business
Kushol Gupta @GuptaPenn
2K Followers 5K Following Research Assistant Professor of Biochemistry and Biophysics | Univ of PA | he/him Find me at @guptapenn.bsky.social
Samuel Mackenzie MD P... @NotoriousEMG
854 Followers 786 Following Pediatric #neuromuscular doc, amateur scientist @URneuroscience, runner, chess enthusiast, dad. #Meliora
Marc Dos Santos, phd @MarcDosSantos3
112 Followers 243 Following Neuroscientist, Postdoc @ Penzes lab , Chicago. multiomics- live microscopy-brain circuits development
Gabriela Repetto 🧬 @gmrepetto
2K Followers 3K Following Clinical geneticist, working on rare and Undiagnosed diseases. Fac de Medicina, Clinica Alemana U del Desarrollo. Miembro de la Academia Chilena de Medicina
Teri Miessner @nelipotgypsy_46
109 Followers 179 Following Creative and analytical, Type A, advocating for #RARE, #MPN, #MGUS , #HEDS, CYP2D6 Poor Metabilizer, PI, Menieres, Neurosarcoidosis. Hubby Gary & Scooby mom.
Ben Forred @ZebraSites
50 Followers 263 Following I make and manage awesome websites for #raredisease advocacy organizations. Husband, father, rare disease patient/researcher, web designer 🤓
LGMD2E @LGMD2E
218 Followers 128 Following no profit organization GFB FOUNDATIONpromote scientific research about LGMD2E (beta-sarcoglycanopathy). Its headquarters is in Italy,involves families worldwide
Emma Matthews 💙 @EmmaM_Channels
508 Followers 442 Following Neurologist and Neuromuscular Specialist @StGeorgesTrust, Reader @StGeorgesUni, Director Genomics CAG, Rare Disease Lead @SEgenomics #neuromuscular #channels
Lieven Lagae @LievenLagae
164 Followers 343 Following
Laura Hattersley @LauraHatte4273
15 Followers 60 Following
Sadie Zawisza @sadieannzawisza
1 Followers 9 Following Embracing every moment Author of E Man Behavior Analyst in Training for Boston Behavior Learning Center Personal Caregiver #phelanmcdermidsyndrome
Sarah E, RN,CHPN 🇺... @SarahS6901
114 Followers 2K Following JESUS✝, 2001💍, DTR w/HPE👩🏻🦰♿, Rare Disease Advocate🦓🎗, Hospice RN➡BSN in the works!🩺, Miss You Major Dad🪖🫡1.4.51-4.22.22♥️ ✨opinions are ALL MINE✨
chrisR @christinaraj13
243 Followers 3K Following Director- Ichthyosis support group- CIRM- Center for Ichthyosis Related Members- https://t.co/O2JUvd34wG
Melinda Hughie Blaloc... @Mmhblalock
230 Followers 2K Following mom • wife • medical mom {epilepsy⚡️ASD} advocate 🧠epilepsy parent support navigator🫀#TAAD aneurysm & #THYCA🦋 survivor 🏥St. Jude fundraiser
Oxford-Harrington Rar... @OHRareDisease
1K Followers 890 Following Rare Disease Centre @UniofOxford in partnership with @HarringtonDI_UH @UHhospitals, accelerating cures for rare diseases
CASK Research UK @CASKResearch
150 Followers 324 Following We are a charitable foundation promoting research into CASK gene mutations and associated neurological conditions in hope of finding therapies and treatments
RNS @RyanNichol49561
8 Followers 65 Following Step… no, DAD to the greatest 8 year old boy on the planet! Angelman Syndrome parent 🪽. A little bit to the left. https://t.co/3gRhht9hQr. Weather & Space
The Med13L Foundation @Med13L_Fdn
72 Followers 606 Following Supporting MED13L families through awareness, research, and community. Connecting hearts and minds to overcome challenges. #NDD #Epilepsy #Autism #ID 🧬💙🧠
Tammy Wozinski @BirdieWozinski
46 Followers 240 Following Cajun, Southern Belle, Phelan-McDermid Momma 🤟 BELIEVER
Liz Butler @lizbutler777
128 Followers 338 Following Genetic Counselor @GeneDx with a clinical interest in epilepsy genetics, rapid genomic testing, and rare disorders / Mom of crazy sports-loving boys (she/her)
Nisha K. Cooch PhD @NishaKCooch
8K Followers 1K Following Biotech and clinical data | Clarifying what the data actually shows. Views my own.
CYSHCNet - Pediatric ... @CyshcNetwork
272 Followers 1K Following Our researchers & lived experience partners work to improve the health care system for children & youth with special health care needs and their families.
Hélène Le Borgne @HeleneLBorgne
1K Followers 5K Following European, bretonne. Public health & research at EU level, rare diseases, transplantation. Youth & Sports (RTs/follows ≠ endorsements, own views).
Tracey Tracey @TraceyTLC333
1K Followers 5K Following Mum who fights for her kids. ASD, Leukaemia, MYBPC3, BRCA2 Cardiomyopathy, Epileptic Encephalopathy, ESES, Graves’ disease +. Loves all Animals, especially Dogs
Matt Pelo @mattpelo
418 Followers 721 Following Founder & CEO @foregenomics, https://t.co/nBGeNlaZSJ. Genetic health screening designed for children. Exited founder and experienced builder.
Brent Warner 🇺🇸... @iambrentwarner
348 Followers 1K Following Top 20 Under 40 in Biotech. CEO @ Protego Bio. Passion for drug development and patients. Views are my own.
COA Katja (Outcomes S... @CoaKatja
126 Followers 648 Following Board Director @ ISPOR, Kielo Research VP, Dr for Psychology, Master of Business Administration (Open)
Helmets4Helmets @Helmets4Helmets
1K Followers 1K Following An idea by 2 brothers (9,6) to raise money for kids in need of protective medical equipment so kids can be kids, just like Bryson! #fightlikebryson
Óscar David Peñuela... @osdavid29
253 Followers 3K Following Padre de Dharma y Salomé, esposo, hijo. Neurólogo pediatra en un país que debe priorizar futuras generaciones. Barista de hobby ☕️
Lena Biosciences @LenaBiosciences
437 Followers 421 Following 3D cell culture products and microphysiological systems for drug development and biomedical research
CDKL5 Brasil @CDKL5Brasil
21 Followers 55 Following Organização não governamental sem fins lucrativos fundada em 2023, composta por pais e familiares de pacientes afetados por #CDKL5 #cureCDKL5
Skinny Genes Foundati... @smardiac
451 Followers 4K Following Raising awareness 4 genetic disorders causing aortic dissections. Turning tragedy into purpose after losing my dad to the #genetic disorder I was diagnosed with
ALS Advocacy @alsadvocacy
12K Followers 2K Following ALS = Lou Gehrig's Disease Thought it had been cured by now? Still no known cause. Still no cure. Still no treatment. Still quickly fatal. Still outrageous.
Danielle Boyce @DataSciDanielle
547 Followers 977 Following Data scientist/Drug Repurposing, Neurodegen + Epilepsy + ID + Oncology//art lover//patient advocate//mom of 4 / Views strictly my own.
Dr. Jason Vassy @jasonvassy
7K Followers 2K Following Primary care physician and genomic medicine researcher @VABostonHC | Assoc Prof @HarvardMed | @BrighamWomens | @Genomes2People
CUL3 Support & Awaren... @SupportCUL3
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