Sophia Cacciatore @secacciatore
Advocate for rare disease families, asker of many questions, and just happy to be here. Joined March 2012-
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Sophia Cacciatore retweeted
📤New call on the Collaborative Genetic webpage! DECADE-Deciphering the CACNA1E developmental and epileptic encephalopathy, from Dpt. of Neurology and Epileptology, University Hospital Tübingen, Germany (Prof. Holger Lerche). epi-care.eu/collaborative-… Do not miss it!
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Sophia Cacciatore retweeted
Thanks to our friends at TSC for sharing this opportunity open across the epilepsies. REN members check this out and share with prospects.
The Al Marshall “Commitment to the Future” Fellows Scholarship is now open! One eligible Fellow will receive full travel and registration coverage for the 2024 @AmEpilepsySoc Annual Meeting. Learn more: ow.ly/HbK350Tfnwo Apply here: ow.ly/gpc250Tfnwq
Sophia Cacciatore retweeted
It's an opportunity to connect with fellow advocates & friends, to learn from the top experts and revel in meaningful connections. You'll find friends that will feel like family and leave feeling inspired, empowered and ready to take on the world. There's something for everyone!
Sophia Cacciatore retweeted
In the past two months I attended six rare #epilepsy and #neurodevelopmentaldisorder conferences and rearch round tables. Attached what I learned.
Sophia Cacciatore retweeted
If you are newly diagnosed or finally coming up for some air, this episode is for you. Please send this episode to a family whose child was recently diagnosed with a #RareDisease effieparks.com/podcast/episod…
Sophia Cacciatore retweeted
Did you know there are phases of a seizure? Dr. Kristen Park, Pediatric Neurologist at Children’s Hospital of Colorado, explains the basics of seizures in Epilepsy Explained. Watch the full episode: bit.ly/3YKT8eS #epilepsyexplained #seizure #epilepsy
Sophia Cacciatore retweeted
Interesting opportunity with REN's collaborator @LalDennis. Something to share with your medical and scientific networks.
🚀 Join our study & please retweet Refine semi-automated tools for genetic variant classification. 👩⚕️ Who? Medical pros & researchers 🧬 What? Classify variants using novel interfaces 💡 Why? Shape the future of decision support in genetics Link: go.uth.edu/geneportalstudy
Sophia Cacciatore retweeted
neuron trying to connect to other neurons
Sophia Cacciatore retweeted
📢📢📢:This is big news for the DEEs!!! ir.longboardpharma.com/news-releases/…
Sophia Cacciatore retweeted
June is #CDKL5Awareness month and @cdkl5_ifcr is taking over this channel to shout out about #CDKL5 Deficiency Disorder all day long! Want to learn more about this rare disease? Check out the information available at CDKL5.com.
Sophia Cacciatore retweeted
Our 6th #CDKL5 Family Education & Awareness Conference is happening now! Thank you to our event sponsors!
Sophia Cacciatore retweeted
Facts ✅ tune in to this 10 min episode and please let me know if I missed anything. #GeneticTesting #CTNNB1
Sophia Cacciatore retweeted
This mom needs your help. In order for my daughter to get life changing treatment. I need Protect Rare HR 6094. If you have time, please tag your Congress and Senate member in this post. Email them on their website with this one liner “I support Protect Rare HR 6094” or call their office and just say that same thing “I support Protect Rare HR 6094.” #raredisease #insurance #healthcare #medicaid #medicare
Sophia Cacciatore retweeted
@curechd2 @KdVSFoundation @cureSYNGAP1 @curedravet @LGS_Foundation @SCN8AAlliance @FamilieSCN2A And thx to @helenc327 for sharing our strategies to tackle @Ring14USA and #UBA5 disease (among others!) - a Mefford Lab team effort! @edith_almanza_ @ebonkowski @esmatfa @sohamsg90 @cwlaflamme @nitchouras and X-less Aidan and Athena #MeffLabDreamTeam
Sophia Cacciatore retweeted
This was such a great meeting! 🗽 It was a privilege to attend the INSYNC-AS meeting representing the Loulou Foundation (#CDKL5) and to meet @cureangelman and @curestxbp1 and @RSRT and @FamilieSCN2A and so many experts from academia, industry and the regulatory world. Thank you @cureangelman and @SFARIorg for hosting us! I have 19 pages of notes and a brain full of ideas 💚💙💜
It’s happening right now! The 4th Annual INSYNC-AS meeting. We love when this brain trust of experts gets together to do meaningful work for AS and other NeuroDevelopmental Disorders (NDDs). Learn more: buff.ly/4aPviko
Sophia Cacciatore retweeted
Headed to @MDBRide4Rare and Riding for @Ring14USA. Want to know what it’s all about? Watch this short video. This was the first event I did after losing Marie - I was raw. But this was important! Link to donate in the comments. youtu.be/tN-ziuZW22k?si…
Sophia Cacciatore retweeted
“Mommy can I tell you something? I’m scared.” I always tell her it’s ok to be scared. It’s ok to cry. We flew into Atlanta to go to her drug trial clinic, hopefully for the last time if FDA approves govorestat. What we thought we be six months turned into years. It’s way too much for a little one. It started at 3yo she’s almost 7. Pediatric drug trials are cruel but without it she would have no treatment. This is rare disease. #raredisease #galactosemia
Sophia Cacciatore retweeted
So sorry I was slow responding to your email, I was tied up watching this over and over again
Sophia Cacciatore retweeted
Courageous Parents Network had the pleasure of presenting Dr. Zeena Audi-Saba from Hassenfeld Children's Hospital @NYULangone with the Margaret S. Lindsay Courageous Provider Award. Congratulations Dr. Audi-Saba and thank you for your leadership in pediatric palliative care.
Sophia Cacciatore retweeted
During the SCN2A Family & Professional Conference, we will recognize 4 professionals for their extraordinary efforts that align our Core Values. The deadline for nominations is June 21st. For more info & to nominate today: docs.google.com/forms/d/e/1FAI…
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 🦓
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.
DEE-P Connections @DEE_Pconnection
721 Followers 388 Following Connecting families with severe developmental & epileptic encephalopathies to information, resources and each other
FamilieSCN2A @FamilieSCN2A
2K Followers 1K Following Our vision is to find effective treatments and a cure for SCN2A disorders.
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
Heidi Grabenstatter @PatientIntv
2K Followers 2K Following RDCA-DAP Scientific Director @CPathInstitute, patient advocate, neuroscientist, and proud mom. Opinions are my own.
John Oldenhof, PhD @john_oldenhof
266 Followers 285 Following Neuroscientist, parent advocate for son with #STXBP1 related disorder @curestxbp1 and early phase drug developer.
International SCN8A A... @SCN8AAlliance
835 Followers 445 Following The International SCN8A Alliance is working collaboratively with families, clinicians and researchers to advance the understanding of and treatments for SCN8A.
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
Ana Mingorance @CNSdrughunter
3K Followers 1K Following 🧠 🧬 Neuroscientist. Looking for new medicines for CDKL5, SCN1A, SHANK3, DHPS and a few others. @cnsdrughunter.bsky.social
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.
Abby Turnwald (she/he... @PedsGCAbby
977 Followers 992 Following Pediatric genetic counselor, neurogenetics, advocate for the rare disease community, let’s talk about sibling health
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.
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
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.
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
Peter Halliburton @phalliburton
2K Followers 2K Following Raising $ for SYNGAP1 🧬 gene therapy // @cureSYNGAP1 501(c)(3) Board // Carter & P’s Dad // @cyberark Channel Sales // Building a small compound in TX 🇨🇱
Bain Brain Lab @BainBrainLab
637 Followers 638 Following 🔬 Neurogenetics at Columbia | HNRNPH2 & brain development research | Dr. Bain | https://t.co/gC8EAdEbTX
Stephanie Fischer @RarePOV
7K Followers 5K Following #Raredisease patient advocate & #stroke survivor.🦓 Member of @PARareDisease. Opinions are my own.
Yssa DeWoody @YssaDeWoody
278 Followers 472 Following christian, wife, parent, ring14 advocate, mathematician, runner, cook, adventurer. Cofounder of Ring14 USA and Ring14 International, but these views are my own.
John Sowe @JohnSowe183809
72 Followers 2K Following
Courageous Parents Ne... @CourageousCPN
715 Followers 474 Following Courageous Parents Network is a non-profit organization that orients and empowers parents and others caring for children with serious illness. #Pedpc
Dup15q Alliance @dup15q
747 Followers 342 Following
KEANU Reeves @KEANUReeve1835
13 Followers 822 Following
Kristin Davis @Kristind07avis
54 Followers 1K Following
Coalition to Cure CHD... @curechd2
608 Followers 384 Following Fighting for our kiddos, and others, with CHD2-related neurodevelopmental disorders. Contact us: info@curechd2org
Rare Epilepsy Network @RareEpilepsy
2K Followers 604 Following Rare Epilepsy Network (REN) is working with urgency to collaboratively improve outcomes of rare epilepsy patients & families via research and advocacy.
Gillian Sapia RN @GillianHSapia
2K Followers 4K Following Ultra Rare Expert. Opinions expressed are MY OWN and do not reflect the views of any organization, employer, or other entity.
Greysen Cacciatore @greysen_c
184 Followers 102 Following
Grace Vinton @HITeaWithGrace
8K Followers 2K Following Healthcare Pulse + Patient Advocate + Big Data Geek + Serial Connector + New Englandah + Own Opinions 👌
angus oborn @angusoborn
48 Followers 137 Following
Rare Disease Advisor @RareDisease_Adv
5K Followers 1K Following Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease.
Ganna Balagura, MD Ph... @GannaBalagura
82 Followers 135 Following Neuroscience | Epilepsy | Developing brain | Synapse | Genetics Passionate about bridging borders in science and in life.
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.
Michelle Smith @mich_smith17
627 Followers 982 Following Senior Social Media Account Director Supreme Communications | #SocialMediaMarketing #DigitalMarketing #PR #Healthcare #HealthIT #ElectionDay
Vivian Neilley @VNeilley
2K Followers 1K Following Healthcare interoperability product @google - Master of Data @TuftsMedSchool - Clemson Tiger - views are my own - she/her - girlonFHIR @ https://t.co/RPGXG3ra2V
The Scn2a Foundation @scn2agene
292 Followers 222 Following Our mission is to drive & accelerate targeted therapies for SCN2A. Please consider donating to our cause: https://t.co/eWEK31PWSa
Karen Ho now on BlueS... @picturewing
440 Followers 593 Following Working toward safe, effective treatments for neurological diseases. Tweets are my own. #BlackLivesMatter #lovealwayswins
Michelle Lewis @CureSCN2A
138 Followers 398 Following Eliana’s Mom, SCN2A Advocate for @familiescn2a , Special Education Teacher, Sports Lover
Raising Rare @Raising_Rare
164 Followers 144 Following Raising Rare focuses on two families’ stories as they navigate a largely uncharted path: the search for treatment, help, and strength raising a rare child.
N-of-1 Hub @nof1hub
78 Followers 499 Following N-of-1 Hub is the market leader in consultancy, collaboration and training in personalised clinical studies (N-of-1 trials and Single-Case Designs.
Kris Pierce @krispmelb
910 Followers 2K Following Rare disease/disability advocate. Founder SCN2A Asia Pacific /Co-Founder of GETA Health Sector Patient/Consumer Engagement Victorian Women Honour Roll 2022
Izabella Pruska-Olden... @IPruskaOldenhof
234 Followers 962 Following Toronto-based independent filmmaker and media artist, university professor, and disabilities advocate.
Catherine Stratton, M... @cathsmstratton
2K Followers 2K Following Epidemiology PhD(c) @UofT; @CIHR_IRSC CGS-D & @fdnPETF Scholar; MPH @Yale; VP & Research Chair @moyamoyafdn #KnowledgeTranslation #RareDisease #Pain #Disability
SCN2A Asia Pacific @SCN2AAustralia
583 Followers 2K Following Working towards a cure for SCN2A, Raising Awareness and SCN2A Organisation for SCN2A families in Australia & across South East Asia.
Clement Chow @ClementYChow
15K Followers 5K Following henfluencer - geriatric millennial - #stopasianhate - don’t call me Clem - emotional eater™️- he/him- @chowlab
Patti M Hall @PattiMHall
2K Followers 3K Following Master Story Alchemist. Book and writing coach. Creator of The Story House STUDIO https://t.co/oGQv3Sxyr2 and FOUNDATION masterclass
Megan Slattery @RareDiseaseMAE
366 Followers 529 Following Rare Disease (#MAE) #Epilepsy Mom-vocate. Former IT Consultant. Health & Wellness Enthusiast.
CTNNB1 Connect & Cure @ctnnb1cc
239 Followers 425 Following Connecting families, raising awareness, finding treatments and a cure for CTNNB1 Syndrome 🧬💛💙 https://t.co/dZAf1GmhAJ
Abby Bartlett @AbbyBartlett_
384 Followers 609 Following Tweeting about mitochondrial biology, #RareDisease awareness, and life in grad school!
Who's going to carry ... @BenFranksAltEgo
2K Followers 776 Following Prior USMC, GWOTx2, Investor/Swing Trader, I change my mind often. Value or Growth investor depending on the cycle. Father of a child with Angelman Syndrome.
PK Fox @pkmfox
137 Followers 210 Following
Shawn Egan @ShawnEgan14
77 Followers 122 Following Chief Scientific Officer of The FamilieSCN2A Foundation. Dad of a special needs SCN2A kiddo, working everyday to make her and the lives of those like her better
The KCNC1 Foundation @KCNC1foundation
396 Followers 1K Following Supporting research to find a cure for all those impacted by KCNC1-related disorders. 501(c)(3) Operating under The Rare Village as our fiscal sponsor.
Laura Palmer @LauraPalmer712
605 Followers 752 Following Language Arts teacher, parent of 3, lover of reading and running, epilepsy and rare disease mom.
Vanessa Vogel-Farley @vvf_vanessa
146 Followers 346 Following
Lisa Manaster @lbhmana
158 Followers 252 Following Mama to my amazing kids - one of whom has a CACNA1A genetic variant. Co-founder of https://t.co/awKpdQ5juE, a foundation working to find a cure for CACNA1A-related diseases
GETA @geneticepilepsy
1K Followers 1K Following GETA: GET A Team, GET A Target, GET A Cure for genetic epilepsy
Danny's Dose @dannys_dose
502 Followers 2K Following Campaign to change Emergency Treatment Protocols in every state for over 32 million Americans requiring specialized care. (501C3)
RUN @rareundiagnosed
2K Followers 4K Following RUN for those affected with rare/undiagnosed conditions: Raise awareness. Urge insurance companies to reimburse WGS. Network to find answers. #RareUndiagnosed
Ann Geffen @annngo
1K Followers 838 Following J.D., M.A. Strategic Public Relations. Executive Director of @TANGO2research #family #fashion #food #fundraising #philanthropy
YellowBrickRoadProjec... @YBRP4hnrnph2
208 Followers 76 Following YBRP is a non-profit organization whose mission is to positively impact the lives of individuals with HNRNPH2 genetic variations.@
0 Followers 0 Following
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
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.
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.
Ingo Helbig @IngoHelbig
3K Followers 381 Following Child Neurologist, epilepsy genetics researcher, blogger
DEE-P Connections @DEE_Pconnection
721 Followers 388 Following Connecting families with severe developmental & epileptic encephalopathies to information, resources and each other
FamilieSCN2A @FamilieSCN2A
2K Followers 1K Following Our vision is to find effective treatments and a cure for SCN2A disorders.
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 🎙
Dr. Heather Mefford @... @hcmefford
3K Followers 879 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
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.
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
Heidi Grabenstatter @PatientIntv
2K Followers 2K Following RDCA-DAP Scientific Director @CPathInstitute, patient advocate, neuroscientist, and proud mom. Opinions are my own.
John Oldenhof, PhD @john_oldenhof
266 Followers 285 Following Neuroscientist, parent advocate for son with #STXBP1 related disorder @curestxbp1 and early phase drug developer.
International SCN8A A... @SCN8AAlliance
835 Followers 445 Following The International SCN8A Alliance is working collaboratively with families, clinicians and researchers to advance the understanding of and treatments for SCN8A.
Madeleine Oudin @MadeleineOudin
4K Followers 1K Following Associate Professor at Tufts University, cancer and epilepsy researcher, fierce advocate for diversity and inclusion, mom of a daughter with SCN8A epilepsy
Ethan Perlstein 1-to-... @eperlste
19K Followers 2K Following ceo @1000cures, ceo @PerlaraPBC (w16 @ycombinator), founder @epalrestat, founder @endrarediseases, founder @smer28rapa
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
Ana Mingorance @CNSdrughunter
3K Followers 1K Following 🧠 🧬 Neuroscientist. Looking for new medicines for CDKL5, SCN1A, SHANK3, DHPS and a few others. @cnsdrughunter.bsky.social
Ovid Therapeutics @OvidRx
2K Followers 286 Following Conquering brain conditions with courageous science. Our guidelines: https://t.co/gD8IS1laCV
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.
Justin West @JustinWestMd
6 Followers 0 Following Justin West Md specializes in a variety of dermatology & cosmetic services in Orange, California.
Ricerca Pcdh19 @pcdh19_ricerca
39 Followers 151 Following Associazione che sostiene la ricerca di una cura per le mutazioni del gene PCDH19 che causano #epilessia farmacoresistente e, spesso, ritardi cognitivi, autismo
#Every1EndingEpilepsy @Every1Epilepsy
280 Followers 577 Following A national epilepsy research collaborative, funded and led by the Epilepsy Research Institute @EpilepsyInst.
Epilepsy Research Ins... @EpilepsyInst
15K Followers 2K Following Radically advancing epilepsy research. Join the #Onein100 campaign today to help raise the profile of epilepsy and drive research forward. @ResearchNetERI
Galia Wilson @galia47
96 Followers 124 Following
Natasha N. Ludwig, Ph... @natashanludwig
262 Followers 363 Following Neuropsychologist 🧠 @kennedykrieger Assistant Professor @hopkinsmedicine | Rare neurogenetic conditions, epilepsy, ID, ASD, outcome measures
Vicky Arteaga @VickyAArteaga
4K Followers 4K Following Directora para America Latina Fondo Syngap / Co-founder SHER (Sociedad Hispana Enfermedades Raras) / @cureSYNGAP1 Board #SYNGAP1 #RareDiseases
FasterCures @fastercures
8K Followers 2K Following FasterCures, of @MilkenInstitute, is working to build a system that is effective, efficient, & driven by a clear vision: patient needs above all else.
Asociación Síndrome... @PhelanMcDermid
2K Followers 2K Following Nuestra misión es mejorar la calidad de vida de las personas afectadas por el síndrome de Phelan-McDermid. 📲 Dona por Bizum: 02019
CureSHANK @CureSHANK
323 Followers 712 Following Relentlessly focused on turning science into life-transforming therapies for #phelanmcdermidsyndrome.
Curedlg4 @curedlg4
65 Followers 121 Following We are a small non-profit whose central goal is to support the research and development of treatments, therapies, and support systems for individuals with DLG4
SHER @sherusaoficial
9 Followers 8 Following La Sociedad Hispana de Enfermedades Raras (SHER) nace en diciembre de 2021 con el objetivo de promover y dar visibilidad, apoyo y entrenamiento a las familias.
Kris Pierce @krispmelb
910 Followers 2K Following Rare disease/disability advocate. Founder SCN2A Asia Pacific /Co-Founder of GETA Health Sector Patient/Consumer Engagement Victorian Women Honour Roll 2022
SCN2A Europe @scn2aeurope
229 Followers 86 Following Fighting for a SCN2A cure - acting locally in Europe, networking globally around the world
SCN2A Families UK @Scn2aU
146 Followers 122 Following Here to support families affected by SCN2A related conditions in the UK
Rare Disease Innovati... @rdii_org
456 Followers 205 Following RDII is a non-profit organization focused on education, engagement and to equip the rare disease community
SCN1B @b_scn1
931 Followers 5K Following Sodium channel 🧬 Epilepsy 🧬 Scn1b news & awareness 🧬 Sharing and re-tweeting SCN1B info 🧬
Endure_Rare 💙💚�... @Endure_Rare
799 Followers 806 Following SYNGAP Dad, Clinical Lab Professional & Triathlete 140.6 living life with grace and peace knowing "someone's worst day is someone's best" #Syngap1 @cureSynGAP1
Michelle Lewis @CureSCN2A
138 Followers 398 Following Eliana’s Mom, SCN2A Advocate for @familiescn2a , Special Education Teacher, Sports Lover
Hope for PDCD Foundat... @hopeforpdcd
46 Followers 59 Following Fundraising for a cure for Pyruvate Dehydrogenase Complex Deficiency (PDCD) & advancing research for rare diseases.
The Scn2a Foundation @scn2agene
292 Followers 222 Following Our mission is to drive & accelerate targeted therapies for SCN2A. Please consider donating to our cause: https://t.co/eWEK31PWSa
PK Fox @pkmfox
137 Followers 210 Following
Katherine Howell @drkbhowell
357 Followers 379 Following Neurologist/epileptologist, clinician-scientist.
Greysen Cacciatore @greysen_c
184 Followers 102 Following
Cure GABA A Variants @CureGABAa
81 Followers 35 Following Our non-profit organization, Cure GABA-A Variants, has been focusing on groundbreaking research.
Monica Dudley-Weldon @mlweldon5
3K Followers 3K Following VA Governor Youngkin Appointee | Biotech | Applied Legal Pro | Strategist | Life Sciences | DOD | Complex Problem Solver | Author | KOL | 🎤 | SME | VAMO
GABA A Alliance @GABA_Alliance
45 Followers 133 Following Our mission is to improve the lives of individuals affected by GABA-A disorders across the globe.
Minds Of Epilepsy @mindsofepilepsy
1K Followers 2K Following New Twitter page focusing on the topic of Epilepsy & Mental Health. #mindsofepilepsy Extension of @epilepsyposi
Stacy Hurt (she/her)�... @stacy_hurt
10K Followers 2K Following Chief Patient Officer @Parexel 🫶 Cancer survivor, Rare disease mom/caregiver, Advocate for the unseen/unheard in healthcare 📣 Opinions are my own
Ganna Balagura, MD Ph... @GannaBalagura
82 Followers 135 Following Neuroscience | Epilepsy | Developing brain | Synapse | Genetics Passionate about bridging borders in science and in life.
Charlene Son Rigby @charleneson
385 Followers 289 Following Data Geek. Rare Disease Advocate. Marketer. Mom. Not necessarily in that order. Committed to curing #STXBP1 At @RARE_X_ and @curestxbp1. Opinions are my own.
TheLAMFoundation @LAMFoundation
1K Followers 448 Following Delivering facts about #LAM #RareDisease and The LAM Foundation. We're dedicated to funding research, advocacy and awareness to improve the QoL for all LAM pts.
Columbia Stem Cell In... @CSCIColumbia
1K Followers 1K Following
Cavernoma Society @TheCavernomaSoc
279 Followers 185 Following ⭕ UK charity offering support to those affected by #cavernoma so you never feel alone. Fighting for a cure. ► Help us raise awareness #RaspberryDay 20 Sept 2024
Rosalind Picard @RosalindPicard
15K Followers 1K Following Inventor, scientist, engineer, prof @MIT @medialab: AI, emotion & wearable data for health, epilepsy, autism; Co-founder @Empatica, @Affectiva; Views are own
NYU Neurology Residen... @NYUneurologyres
4K Followers 229 Following Official twitter account of the @nyulangone Dept of Neurology Residency Program.
Abby Turnwald (she/he... @PedsGCAbby
977 Followers 992 Following Pediatric genetic counselor, neurogenetics, advocate for the rare disease community, let’s talk about sibling health
Dr. Jocelynn Pearl @JocelynnPearl
10K Followers 4K Following Cell Therapy | Epigenetics | Writing | Podcasting | Previously: SGMO, UW, Lyell, Tune Tx & @LadyScientistP1
Betsy Pilon @BetsyPilon
853 Followers 1K Following You can find me less often here, and most often 🦋🦋🦋 under the same name.
TalkAboutIt.org @TalkAboutItorg
8K Followers 6K Following STIGMA BUSTING for epilepsy & MANY other conditions! Co-founder: @GregGrunberg. https://t.co/VlYrkdNHa5 PODCAST: https://t.co/vL91AKrO7L…
Probably Genetic @ProbGenetic
597 Followers 751 Following Rare genetic conditions can take years for doctors to diagnose. #ProbablyGenetic is a personalized healthcare company working to help you find answers.
Ataxia Global Initiat... @ataxia_global
633 Followers 138 Following Ataxia Global Initiative is a worldwide platform for clinical research in ataxias.
SanfordCoRDS @SanfordCoRDS
4K Followers 2K Following CoRDS is the world's only cost-free, international #RareDisease #PatientRegistry - Enroll today and share your #data! https://t.co/DOIhiNxbbF
Cavernöst Angiom Sve... @cavernost
102 Followers 300 Following Non-profit #PatientOrganisation for #CavernousAngioma, also known as #CavernousMalformation, #CCM and #Cavernoma. Sweden.
Creatine Info @CreatineInfo
376 Followers 125 Following A NonProfit dedicated to the three major Creatine Deficiency Syndromes- AGAT, GAMT, and CTD
Gillian Sapia RN @GillianHSapia
2K Followers 4K Following Ultra Rare Expert. Opinions expressed are MY OWN and do not reflect the views of any organization, employer, or other entity.
Karen Utley @cdkl5mom
44 Followers 50 FollowingYou might like
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