Ana Mingorance @CNSdrughunter
🧠 🧬 Neuroscientist. Looking for new medicines for CDKL5, SCN1A, SHANK3, DHPS and a few others. draccon.com Joined August 2011-
Tweets3K
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¿Científicos o esclavos sin derechos? Está claro: fuimos esclavos, sin derechos😝 E @inclusiongob @SaizElma no ha hecho caso a alegaciones de @AfectadosBSS @ANIH_1 @ASEICAnews @SEBBM_es @COSCEorg Investigadores obligados a #trabajarconbecassincotizar🤬 elindependiente.com/opinion/2024/0…
🗓️ ✅ Los días 25 y 26 de abril, viajamos a Boston (EE.UU.) para asistir al 𝑷𝒉𝒆𝒍𝒂𝒏-𝑴𝒄𝑫𝒆𝒓𝒎𝒊𝒅 𝑺𝒚𝒏𝒅𝒓𝒐𝒎𝒆 𝑫𝒓𝒖𝒈 𝑫𝒆𝒗𝒆𝒍𝒐𝒑𝒆𝒎𝒆𝒏𝒕 𝑺𝒚𝒎𝒑𝒐𝒔𝒊𝒖𝒎 , organizado por @CureSHANK. Lee la noticia 👇 22q13.org.es/simposio-desar… #pmsdds2024
Por qué tener una especialidad de Genética Clínica es tan importante 🧬👩⚕️
Por qué tener una especialidad de Genética Clínica es tan importante 🧬👩⚕️
Please watch this video about Jaxon, and see Jaxon clapping during the intro 🥰🥰 A difficult birth, then "developmental delays" to"autism" to epilepsy and the journey to a gene. It is the story of a big boy with #SYNGAP1, but could be the story of many with a #RareDisease 🦓
Please watch this video about Jaxon, and see Jaxon clapping during the intro 🥰🥰 A difficult birth, then "developmental delays" to"autism" to epilepsy and the journey to a gene. It is the story of a big boy with #SYNGAP1, but could be the story of many with a #RareDisease 🦓
Having Jaxon's #SYNGAP1 diagnosis "was a sense of relief, we were finally able to put our finger on it!" - Monica Harding, Jaxon's mom Trailer - youtu.be/jjiGzDAxUh0 Details - Syngap.Fund/Jaxon Donate - givebutter.com/TZjVIv #ConnectionIsEverything
Hanging out with the pediatric oncologist
El Instituto de Neurociencias Vithas Madrid ha nacido con la vocación de brindar una asistencia integral y de excelencia a pacientes de todas las edades desde la #Neurología, #Neuropediatría, #Neurocirugía y #SaludMental 🧠
So excited for our Dravet community! Stoke Therapeutics (NASDAQ:STOK) reported positive results from studies for its drug STK-001 in the treatment of children and adolescents with Dravet syndrome, a genetic form of epilepsy. #curedravet #dravet sec.gov/Archives/edgar…
Spinraza - the most impactful genetic medicine in history - works by upregulating translation of an mRNA. Could this be scene 1, take 2?… What a majestic hope to harbor - a data-based one! investor.stoketherapeutics.com/news-releases/…
💜@StokeTx announces fantastic results from full Phase 1/2 trial in #Dravet syndrome: - 80% seizure reduction (and on top of fenfluramine!) - Documented improvements in cognition and behavior - No new safety findings - FDA clearance of target Ph3 doses investor.stoketherapeutics.com/news-releases/…
✨Taysha announced great data with first 2 ADULT #Rett patients, now moving to higher gene therapy dose. Some great quotes! 🟢"gained ability to sit unassisted for the first time in over a decade" 🟢"reduced hand stereotypies for the first time since regression at age three"
✨Taysha announced great data with first 2 ADULT #Rett patients, now moving to higher gene therapy dose. Some great quotes! 🟢"gained ability to sit unassisted for the first time in over a decade" 🟢"reduced hand stereotypies for the first time since regression at age three"
🧠 Neuroscientist in the Boston area? 🦓 or attending the #WODC orphan meeting in April? Then check out the #SHANK3 Phelan-McDermid symposium that @CureSHANK is hosting at @MassBio Hub on April 26 right after the WODC. Details, program and registration: esg.swoogo.com/CureSHANK4_25_…
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
Dennis Lal @LalDennis
3K Followers 329 Following Director of the Center for Neurogenetics; Associate Professor at UTH - Neurogenetics & Informatics - My opinions are my own & do not reflect my employer.
American Epilepsy Soc.. @AmEpilepsySoc
14K Followers 721 Following Official account for American Epilepsy Society. We support research + education for professionals working towards a world without epilepsy. RTs ≠ endorsements.
Effie Parks @OnceUponAGene
5K Followers 3K Following Nuclear Advocate | Award Winning Podcaster | Speaker | Captain Connection | #RareDisease #RareMama to my sweet, Ford, who lives with #CTNNB1 🦓
Ángel Aledo-Serrano @AledoNeuro
7K Followers 1K Following Neurologist🧠 Epileptologist, director of @Vithas @SynaptiaMadrid Institute & Epilepsy Center - Neurogenetics🧬 @SENeurologia - #FND - [email protected]
Ethan Perlstein @eperlste
17K Followers 2K Following ceo @PerlaraPBC (@ycombinator W16), ceo @epalrestat, solo vc @AngelList, evo pharmacologist, mTOR worshipper, HODLer since '14, cofounder of Kai & Luca, bio/acc
Prof Ingrid Scheffer @ingridscheffer
3K Followers 656 Following Laureate Professor of Paediatric Neurology at @unimelb, @theflorey, @austin_health, @RCHMelbourne. Research epilepsy, classn, genetics, speech & mentorship
Ingo Helbig @IngoHelbig
3K Followers 349 Following Child Neurologist, epilepsy genetics researcher, blogger
Dr. Heather Mefford @hcmefford
3K Followers 948 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
Stoke Therapeutics @StokeTx
1K Followers 175 Following Stoke Therapeutics is addressing the underlying cause of severe diseases by upregulating protein expression with RNA-based medicines.
Stéphane Auvin @stephane_auvin
2K Followers 864 Following Child Neurologist & Epileptologist. Professor at @univ_paris_cite. Dept Chair at @HopRobertDebre. Senior member 2021 @InstUnivFr. Deputy Editor @EpilepsiaJourn
Mike Graglia 🌻 @JMGraglia
7K Followers 3K Following CEO @cureSYNGAP1 🧬 Pod https://t.co/9jkDkMg5R8 🎧 Alum @GonzagaU @peacecorps @pdosoros @SAISHopkins @Columbia_Biz @IFC_org @bcg @gatesfoundation @newamerica
Luke Rosen @lukebrosen
2K Followers 432 Following Dad of 2 amazing kids. Founder of https://t.co/M8dxuYqmgL. Works with families affected by rare neurological diseases and cancer. Baseball and hockey. Firefighter.
Torie Robinson 🇺�.. @TorieRobinson10
6K Followers 2K Following @EpilepsySparks Insights Podcast Host & YouTuber 🧠🧬 | International Speaker | #Epilepsy & #MentalHealth Research fiend | @MaudsleyNHS Gvnr | All views my own
AGE Program - Adult G.. @DrDaniAndrade
2K Followers 713 Following Professor of Neurology @UofT. Director, #AdultGeneticEpilepsy Program @UHN. Chair of @IlaeWeb #TransitionTaskForce #EpilepsyGenetics #neurotwitter
SynGAP Research Fund .. @cureSYNGAP1
10K Followers 6K 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.
Dr. Tracy Dixon-Salaz.. @TracyDixonSalaz
3K Followers 974 Following Mom. Rare Disease & LGS Advocate. Neuroscientist. The largest most neglected healthcare resource, worldwide, is the patient. Executive Director @LGS_Foundation
CDKL5 - IFCR @CDKL5_IFCR
1K Followers 646 Following 501(c)(3) dedicated to advocacy, research & cures for #CDKL5 Deficiency Disorder - a Developmental & Epileptic Encephalopathy (DEE). Formerly used @CDKL5_USA
Rikke S. Møller @FiladelfiaGene1
2K Followers 745 Following Professor of Epilepsy Genetics; Head of Department of Epilepsy Genetics and Personalized Medicine at @Filadelfia_dk & SDU. Tweets are my own.
Borja Cabal-Paz 🧠 @BorjaCabal
900 Followers 576 Following Neurologist | MD @UniversidadeUSC | @Vithas @SynaptiaMadrid | @NeurologiaHUPH | #Neurogenetics 🧬 & #Neuromuscular 💪
Elaine @ElaineOL24
8 Followers 91 Following Neuroscientist | Neuroimmunology | Epilepsy Research | Irish Mammy | Sea Swim and Tea | Views are my own
Nick Frost @Nickfrostneuro
431 Followers 580 Following Cognitive Neurologist / Systems Neuroscientist / Dad
Alycia Halladay @AHalladay212
1K Followers 521 Following
Sara Sierra @ssierra55
56 Followers 164 Following
Zohaib Hassan, PhD @drzohaibh
889 Followers 6K Following Postdoctoral Researcher at @ZhejiangLab Hangzhou
Melody_bch @MelodyBch
5 Followers 164 Following
Steven Roberds @StevenRoberds
519 Followers 247 Following Chief Scientific Officer at the TSC Alliance @tscalliance. Personal tweets @steveroberds. Views my own.
WildMann @freispieler
15 Followers 285 Following #schwierigerVater von drei Kindern, davon eines schwerstmehrfachbehindert, FCKAFD
Gabriel Belmar - El �.. @elareadebroca
6K Followers 6K Following Soy psicopedagogo y comunico las ciencias cognitivas y las ciencias del aprendizaje. Cuenta personal: @Gabobelm_
Rare Disease Advisor @RareDisease_Adv
5K Followers 1K Following Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease.
Gene & Protein in Dis.. @GPD_ASP
273 Followers 2K Following Gene & Protein in Disease (GPD) ( ISSN: 2811-003X) is an international journal for #molecular and #translational #medicine.
Dr Abayomi O Ojetayo .. @DrOjetayo
544 Followers 4K Following I am a Medical Doctor with several years of clinical experience, MSc Degree in International Public Health,and M.S. Degree in Clinical Research Administration.
Jeff Rubin @jeffabunny
347 Followers 473 Following Gene therapy / biotech guy. Previously @stanford, @mayoclinic, @ucsc. Tweets are only affiliated w/ me
Steven L @StevenLaine1977
126 Followers 441 Following Father of two boys on the autism spectrum, runner and blogger.
Just Me @StormyVNV
38K Followers 38K Following #OpGOP #OpMAGA #OpTrump #Epilepsy #VeteransForCannabis #OpStopSuicide #AgentOrange #OpStopHate #NoHate #Atheist https://t.co/PYbqLoxtFO
Narinder Singh @Narinde204
29 Followers 772 Following
Ramiro Maldonado @RamMaldonado32
1K Followers 2K Following @Dukeeyecenter Retina specialist. Ophthalmic Geneticist. Clinician-Scientist. #ophthalmicgenetics #genetherapy #electrophysiology #translationalresearch
Deborah Costa @deborahhcostamm
15 Followers 250 Following mãe do Davi, autista com alteração genética rara #CACNA1C
SMA-Europe @SMAEurope
2K Followers 1K Following SMA Europe is a non-profit umbrella organisation of spinal muscular atrophy (SMA) patient organisations from across Europe. All together. One goal.
Yu Zhang @w841y3
0 Followers 21 Following
hellothere @123nothingnew
105 Followers 5K Following DYOR. HODL. Not financial advice. Here to learn and share. Invest in yourself. Be kind.
BowTiedBiotech 🧪�.. @BowTiedBiotech
12K Followers 7K Following Tri-Weekly Biotech Updates: Public & Private Market Updates, Company Building, Financing, Exit Strategies, and Emerging Science Trends | Current: Biotech VC
Laura DC @laudika12
17 Followers 75 Following
Sonja Cumberbatch @SonjaCumbe22558
1 Followers 23 Following
Raquel FD @feliu_raquel
4 Followers 107 Following
CureCHM @curechm
3K Followers 4K Following The Choroideremia Research Foundation supports research, education, and advocacy regarding CHM, a hereditary retinal-degenerative disease that causes blindness.
Novak @IvanovaIri
80 Followers 126 Following
. @wglind1
58 Followers 2K Following
bough @firebutworking
328 Followers 360 Following
Marissa @marvolpe74
63 Followers 564 Following
Saiz @ohmyrug
3 Followers 40 Following
John Wang @JohnWang1021109
27 Followers 97 Following
Cullen Marshall @cullenmarsbar
425 Followers 480 Following
Shanon Bramblette @Shanon0920
711 Followers 5K Following ?She/Her Bisexual & Bi-romantic TBI, DV, & GSW survivor in recovery. Single mom of 3 kids & 2 fur babies. Spoonie ♿️☮️☯️♋️ BLM Keto Low-carb Pro-Love Pro-Equal
smitha @smitha45929675
23 Followers 78 Following
AROGUNDADE MUIDEEN TU.. @DMuideen
693 Followers 5K Following Biochemist, Drosophilist, Neuroscientist, Nanoscientist, Bioinformatics, oncologist
Deepak @Deepak_poison
6 Followers 134 Following
Sapio Life España @sapiolifeespana
338 Followers 1K Following Sapio Life S.A.U. es una empresa del Gruppo Sapio que opera en el ámbito nacional y que se dedica principalmente a las terapias respiratorias domiciliarias
Lau Herve @LauHerve
141 Followers 3K Following
Lisa Johnson @LisaJoxaccount
42 Followers 151 Following Creator and Designer | Angelman Syndrome Advocate Kdrama & Coffee Queen ☕️🍫 BTS Army 💜
Jenny P. Garzon @JennyGarzn4
342 Followers 495 Following •MD | •PostDoc | •Latina | •Enjoying the ride ⛰️🌎
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
Dennis Lal @LalDennis
3K Followers 329 Following Director of the Center for Neurogenetics; Associate Professor at UTH - Neurogenetics & Informatics - My opinions are my own & do not reflect my employer.
American Epilepsy Soc.. @AmEpilepsySoc
14K Followers 721 Following Official account for American Epilepsy Society. We support research + education for professionals working towards a world without epilepsy. RTs ≠ endorsements.
Effie Parks @OnceUponAGene
5K Followers 3K Following Nuclear Advocate | Award Winning Podcaster | Speaker | Captain Connection | #RareDisease #RareMama to my sweet, Ford, who lives with #CTNNB1 🦓
Ángel Aledo-Serrano @AledoNeuro
7K Followers 1K Following Neurologist🧠 Epileptologist, director of @Vithas @SynaptiaMadrid Institute & Epilepsy Center - Neurogenetics🧬 @SENeurologia - #FND - [email protected]
Ethan Perlstein @eperlste
17K Followers 2K Following ceo @PerlaraPBC (@ycombinator W16), ceo @epalrestat, solo vc @AngelList, evo pharmacologist, mTOR worshipper, HODLer since '14, cofounder of Kai & Luca, bio/acc
Prof Ingrid Scheffer @ingridscheffer
3K Followers 656 Following Laureate Professor of Paediatric Neurology at @unimelb, @theflorey, @austin_health, @RCHMelbourne. Research epilepsy, classn, genetics, speech & mentorship
Ingo Helbig @IngoHelbig
3K Followers 349 Following Child Neurologist, epilepsy genetics researcher, blogger
Dr. Heather Mefford @hcmefford
3K Followers 948 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
Stoke Therapeutics @StokeTx
1K Followers 175 Following Stoke Therapeutics is addressing the underlying cause of severe diseases by upregulating protein expression with RNA-based medicines.
Stéphane Auvin @stephane_auvin
2K Followers 864 Following Child Neurologist & Epileptologist. Professor at @univ_paris_cite. Dept Chair at @HopRobertDebre. Senior member 2021 @InstUnivFr. Deputy Editor @EpilepsiaJourn
Mike Graglia 🌻 @JMGraglia
7K Followers 3K Following CEO @cureSYNGAP1 🧬 Pod https://t.co/9jkDkMg5R8 🎧 Alum @GonzagaU @peacecorps @pdosoros @SAISHopkins @Columbia_Biz @IFC_org @bcg @gatesfoundation @newamerica
ILAE @IlaeWeb
11K Followers 628 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
Luke Rosen @lukebrosen
2K Followers 432 Following Dad of 2 amazing kids. Founder of https://t.co/M8dxuYqmgL. Works with families affected by rare neurological diseases and cancer. Baseball and hockey. Firefighter.
Torie Robinson 🇺�.. @TorieRobinson10
6K Followers 2K Following @EpilepsySparks Insights Podcast Host & YouTuber 🧠🧬 | International Speaker | #Epilepsy & #MentalHealth Research fiend | @MaudsleyNHS Gvnr | All views my own
AGE Program - Adult G.. @DrDaniAndrade
2K Followers 713 Following Professor of Neurology @UofT. Director, #AdultGeneticEpilepsy Program @UHN. Chair of @IlaeWeb #TransitionTaskForce #EpilepsyGenetics #neurotwitter
SynGAP Research Fund .. @cureSYNGAP1
10K Followers 6K 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.
Dr. Tracy Dixon-Salaz.. @TracyDixonSalaz
3K Followers 974 Following Mom. Rare Disease & LGS Advocate. Neuroscientist. The largest most neglected healthcare resource, worldwide, is the patient. Executive Director @LGS_Foundation
Brad Loncar @bradloncar
69K Followers 365 Following #Biotech, Founder of @BiotechTVHQ, KC native, @univmiami hurricane.🧬🙌
Nick Frost @Nickfrostneuro
431 Followers 580 Following Cognitive Neurologist / Systems Neuroscientist / Dad
Amit Etkin @AmitEtkin
1K Followers 155 Following Founder & CEO of @AltoNeuro (NYSE: $ANRO). Pioneering #PrecisionPsychiatry. MD neuroscientist + PhD psychiatrist, Stanford professor.
Metro de Madrid @metro_madrid
726K Followers 613 Following Metro de Madrid es la empresa pública que gestiona la red de metro de la Comunidad de Madrid. https://t.co/OAsuU9g2lQ
Fyodor Urnov @UrnovFyodor
15K Followers 533 Following Gene editor + Professor of Molecular Therapeutics @berkeleyMCB + Director of @igisci @danahercorp Beacon for CRISPR Cures.
Alok Tayi @aloktayi
3K Followers 705 Following Building a community to find & fund treatments for rare diseases w/ @VibeBio Also: @biotech2050pod
Amaal Starling, M.D. .. @AmaalStarlingMD
5K Followers 333 Following Neurologist specializing in Migraine, Posttraumatic Headache, Medical Education, Patient & Physician Advocacy. Tweets are my own. #IAmAMigraineWarrior
SOLVE FSHD @SOLVEFSHD
263 Followers 2 Following We are catalyzing the pace of innovation to accelerate a cure for FSHD.
Dra. Alba Tristán-No.. @AlbaAlbot
241 Followers 368 Following Senior neuroscience scientist specialized in the study of rare genetic and neurodevelopmental disorders: Biomarkers and new therapies to improve patients' life
Przemyslaw Grudnik @GrudnikPgrudnik
211 Followers 1K Following Core Facility Leader at @MCB_UJ, Beamline supervisor @SOLARIS_science Hypusination Team Leader Structural Biology and beyond:)
Molecule @Molecule_dao
12K Followers 2K Following Funding & tokenization platform for biopharma IP. Fund research & participate in translation science from the earliest stages. https://t.co/zUPd1EUQ13
Brennan Schlagbaum, C.. @Budgetdog_
143K Followers 299 Following CPA helping you become the next MILLIONAIRE💰| 1,200+ Budgetdog Academy students 👉🏼| Listen to my podcast below👇🏼
Geraldine Bliss @GYBliss
60 Followers 338 Following
Giulia Massaro @DrGiuliaMassaro
504 Followers 523 Following Lecturer and Group Lead working on Gene Therapy Viral Vector Technologies @School_Pharmacy | Manager @UCL GTx Viral Synthesis Facility | @_BSGCT | @aisuk_info
Michael Hughes @DrMichaelHughes
87 Followers 130 Following Developing gene therapies for debilating genetic disorders.
Javier García-Planel.. @javiergplanells
444 Followers 480 Following Apasionado por la Genética y por dar valor a lo que nos dicen nuestros genes. Cualquier opinión o comentario en esta cuenta es, obviamente, personal
PepManzano @pepmanzano
42 Followers 41 Following
Ignasi Andreu @IgnasiAndreu
156 Followers 457 Following basket lover. Phelan McDermid power. Madness. Zucaina. Rajoles hidràuliques
Apertura Gene Therapy @Apertura_GTX
70 Followers 43 Following A biotechnology company opening opportunities for treating debilitating diseases with limited options for patients
Eduardo G-Junceda @EduardoGJR
2K Followers 3K Following Biólogo haciendo química en @IQOG_CSIC. Miembro de @BioGlycoChem Group. Aficionado al cine, fotografía, arte, política y cocina. En otro tiempo, gran lector.
Alex Colville @AlexJColville
3K Followers 433 Following General Partner at @age1vc extending healthy lifespan. PhD alum of @Thomas_Rando @stanfordmed
Abby Turnwald (she/he.. @PedsGCAbby
927 Followers 1K Following Pediatric genetic counselor, neurogenetics, advocate for the rare disease community, let’s talk about sibling health
age1 @age1vc
1K Followers 8 Following Backing contrarian founders building breakthrough longevity companies to increase healthy human lifespan.
PYC Therapeutics @PycTherapeutics
192 Followers 146 Following Pioneering a new generation of #RNA therapeutics to change the lives of patients with severe inherited diseases
AEMICE DolorDeCabeza @AEMICE_
3K Followers 224 Following Asociación Española de #Migraña y #Cefalea (AEMICE), Pacientes de #migraña y otros dolores de cabeza. https://t.co/IRKMpiT33v
Jorge Soto Ph.D @educativo95
2K Followers 1K Following Profesor e investigador universitario. Me gustan las Ciencias de la Educación y mil cosas más. Desaprendiendo día a día.
C618X🕊️ @C618X
133 Followers 2K Following Especialista en Geriatría y Salud mental. Apuesto por nuevos modelos de Optimización,Cronicidad &Seguridad💊Envejecimiento sostenible. Emigrante Retornada 🇪🇺
Virusemergentes @Virusemergentes
19K Followers 1K Following Miguel Ángel Jiménez Clavero. Investigo sobre virus emergentes en el CISA ( @CISA_INIA_CSIC ) @INIA_es, @CSIC https://t.co/7d7cD4BHWC…
SOL @SoledadA2023
38 Followers 146 Following
Elena Suárez Bonnet @esuabon
444 Followers 1K Following Dra. en Biología. Coordinadora TIC. Docente de FP con gusto por el inglés, ciencia, tenis y música.
Ester Lázaro @EsterLzaro1
6K Followers 1K Following Investigadora científica de los OPIs. Escribo, divulgo y pongo pasión en casi todo lo que hago, incluidos los retos de la vida. Ah!! y muchas veces me equivoco.
Helen Willsey @goodfrognosis
943 Followers 1K Following Using frogs to dissect psychiatric disorders (she/her)
Madeleine Oudin @MadeleineOudin
5K Followers 2K Following Associate Professor at Tufts University, cancer and epilepsy researcher, fierce advocate for diversity and inclusion, mom of a daughter with SCN8A epilepsy
Latanya Agurs (she, h.. @NeuronsAndSport
398 Followers 192 Following Pediatric Epileptologist 🧠 || CHLA Neuron & Epilepsy PD || Literacy Supporter || Animal Lover || Humanist || Sports Nut || These are my random musings
Alex S. Aguirre, MD @asaguirremd
2K Followers 4K Following Lecturer/Researcher @USFQ_Ecuador 🇪🇨| Incoming PGY-1 Child Neuro via (@BostonChildrens/@The_BMC)| Passionate about Health Equity & Advocacy |🎾🗻🧠🧸🧬
FLUBIN LAB @FLUBINLAB
1K Followers 515 Following Dr. Farah Lubin's lab is interested in the epigenetic basis of learning and memory and preclinical and clinical study of a variety of memory disorders.
CHASERR lncRNA Dad @chaserrdad
146 Followers 350 Following Co-President @curechd2. Dad of first 🧒 in the 🌎 with a neurological disease caused by a lncRNA = Chd2 overexpression. Hunting for a cure. 📝coming soon.
Alfredo Gonzalez-Suls.. @SulserGonzalez
755 Followers 809 Following Neuroscientist researching epilepsy
Melissa Fasol @melissafasol
159 Followers 535 Following Neuroscience PhD student 🧠 monogenic neurodevelopmental disorders & machine learning 🤖 @EdinburghUni @sidb_edinburgh, doodler https://t.co/JIlkfFJzJE
Ricardo Morcos @richmrc4
420 Followers 833 Following Neurology - Epilepsy ⚡️🧠 @Vithas @SynaptiaMadrid 🧬👨🏻⚕️🌎 Geopolitics. Economy. Social Justice
BowTiedBiotech 🧪�.. @BowTiedBiotech
12K Followers 7K Following Tri-Weekly Biotech Updates: Public & Private Market Updates, Company Building, Financing, Exit Strategies, and Emerging Science Trends | Current: Biotech VC
Maria I. Tapia @mariaitapia
27K Followers 2K Following Todo el mundo sabe algo que tú no sabes. Por eso estoy aquí. Escribo libros sobre salud y nutrición. Puedes verlos aquí: https://t.co/m9KNsgDQSD
María Jesús Díaz �.. @Perbess
8K Followers 3K Following #Radiología y poco más A #Coruña, #Galicia #España @Vilavaite es mi alter ego en inglés #VaccinesPlus #CHUAC #SERME
Daniel Viñé @danielvgphoto
6K Followers 379 Following Fotógrafo de Paisaje | Impresiones de mis fotografías disponibles | Milky Way Photographer of the Year 2022 | Drone pilot | https://t.co/TVFi3uqXeI
Andreas Borg @_andreasborg
540 Followers 746 Following Adjunct Professor @NYUTandon, Coder, Musician @ Perfect Society, Founder CURE5 #cureCDKL5 #CRISPR
Ana Mourelo @ana_mourelo
7K Followers 2K Following Promotora #1rParcInclusiuBcn, Presidenta @AsocMecp2, 🏅de honor de Bcn 2023 y Madre de #UnSuperhéroeSinCapa convertido en 💫 #Discapacidad 💚#Activismo💜
CASK Research UK @CASKResearch
165 Followers 353 Following We are a charitable foundation promoting research into CASK gene mutations and associated neurological conditions in hope of finding therapies and treatments
Michael Higley 🧠�.. @mjhigley
2K Followers 811 Following Assoc. Prof, Yale Neuroscience|BME|Psychiatry, Cellular electrophysiologist and imager of cortical circuits, Dada of two boys.
El periodista @Perestupinya y el investigador @LluisMontoliu, galardonados en la III edición de los Premios #CSIC-@FundacionBBVA de #ComunicaciónCientífica por el rigor, la calidad y el amplio impacto de su trabajo divulgativo. 👉 tiny.cc/cvfwxz
🗓️ ✅ Los días 25 y 26 de abril, viajamos a Boston (EE.UU.) para asistir al 𝑷𝒉𝒆𝒍𝒂𝒏-𝑴𝒄𝑫𝒆𝒓𝒎𝒊𝒅 𝑺𝒚𝒏𝒅𝒓𝒐𝒎𝒆 𝑫𝒓𝒖𝒈 𝑫𝒆𝒗𝒆𝒍𝒐𝒑𝒆𝒎𝒆𝒏𝒕 𝑺𝒚𝒎𝒑𝒐𝒔𝒊𝒖𝒎 , organizado por @CureSHANK. Lee la noticia 👇 22q13.org.es/simposio-desar… #pmsdds2024
Por la época del año y el clima recibo muchas consultas de niños con crisis febriles. Me sorprende que los padres me digan que no habían oído hablar nunca de las #convulsiones por fiebre. Así que va un hilo de #neuropediatria para ayudar.
Ayer en #NaukasGuardo vimos este precioso mural. @Suescudero y yo no quisimos dejar de guardar un recuerdo. Está en Guardo (Palencia), es obra de David Esteban (Da2.0), muestra a Alex, un chaval con acidemia metilmalónica, y visibiliza la investigación en enfermedades raras.👏👏
Qué detalle @Plaza_Bickle Muchas gracias por contribuir en toda ocasión a visibilizar la investigación sobre #EnfermedadesRaras, tan necesaria. Enhorabuena a David Esteban (Da2.0) por esa instantánea tan significativa, al implicar a pacientes en investigación @FEDER_ONG 👏🏼👏🏼👏🏼
Ayer en #NaukasGuardo vimos este precioso mural. @Suescudero y yo no quisimos dejar de guardar un recuerdo. Está en Guardo (Palencia), es obra de David Esteban (Da2.0), muestra a Alex, un chaval con acidemia metilmalónica, y visibiliza la investigación en enfermedades raras.👏👏
Key point: "The European Reference Networks (ERNs) & the national authorities should continue to collaborate toward standardization and optimal care of persons with #epilepsy of genetic etiology." @EpilepsiaOpen: doi.org/10.1002/epi4.1… @EpiCARE_ERN @WileyNeuro #epilepsyresearch
Hace 5 años compré un «tronco del Brasil». Una planta que me trae buenos recuerdos. La coloqué en un sitio de paso que decidí decorar con plantas. Pues ha florecido. Por la tarde sus flores se abren, un perfume intenso y dulce. Me dicen que pasa pocas veces, me siento afortunada.
@cbamadrid @SaizElma @inclusiongob @merck_es @FBSabadell @PadulaPartners Yo, como mis compañeros de @AfectadosBSS, no me he jubilado todavía y, encima, cobraré menos de lo que me corresponde ya que trabajé en investigación pre y postdoctoral durante 7 años y el gobierno de turno no cotizó por mi. NO QUIERO PROLONGAR. QUIERO JUBILARME. CONVENIO YA!!!
Hoy en el #DíaADN y con motivo de las concentraciones para que haya #EspecialidadGenéticaClínica me gustaría visibilizar la importancia del diagnóstico para las familias con #EnfermedadesRaras. El periplo que la mayoría debe pasar hasta tenerlo. 👇
Drug repurposing works. Going from an avg of 5 seizures a day to no seizures bc of a drug we found in flies is AMAZING. The power of our partnerships with foundations AND families.
Drug Repurposing is coming for #SYNGAP1! In our very first Drug Repurpose update, we look at N-acetyl-L-leucine (NALL). Syngap.Fund/NALL24 @ClementYChow
#WorldOrphanUSA: Emil Kakkis, MD, PhD, founder and CEO of @ultragenyx, discusses the use of #biomarkers to enable successful development of disease-modifying therapies for #RareDisease during a @OrphanConf session. #OrphanDrugUSA #RDAatWODC
Advocacy through art is a wonderful note to end the first day of #WorldOrphanUSA on. Witnessing @BeyondtheDx’s portrait unveiling was an honor. Look forward to sharing more from @OrphanConf tomorrow!
Partnering with @cureSYNGAP1 has been a thrill! Our partnership drug screen has been one of our most exciting! NALL may lead to real therapeutic options for Syngap.
Drug Repurposing is coming for #SYNGAP1! In our very first Drug Repurpose update, we look at N-acetyl-L-leucine (NALL). Syngap.Fund/NALL24 @ClementYChow
@silviacerolini, CEO, Eyes on the Future; Ana Rita Moreira, Founder & President, @vatpasealliance; Emily Ventura, Executive Director, @pficnetwork; @kristendahlgren, Co-Founder, Pink Eraser Project; @AnjeeDavis, President, @FightCRC
Please welcome our newest LeadersLink participants: @JMGraglia, Founder and Managing Director, @cureSYNGAP1; Michelle Stewart, CEO, @PanKind_APCF; @aprosen, CEO, @NAF_Ataxia; Deena Chisholm, Executive Research Engagement Director,@TANGO2Research
We are thrilled to announce the new LeadersLink cohort has been selected! Nine exceptional patient organization leaders will focus on building their organizational capacity to engage diverse patients throughout the R&D spectrum. Meet the new cohort here: milkeninstitute.org/article/leader…
Excited to join this phenomenal program & be mentored by remarkable #patientadvocacy executives. Thank you @fastercures/@MilkenInstitute for this opportunity to learn and become a more effective leader for the @cureSYNGAP1 (SRF) & board member of @combined_brain. #SYNGAP1
We are thrilled to announce the new LeadersLink cohort has been selected! Nine exceptional patient organization leaders will focus on building their organizational capacity to engage diverse patients throughout the R&D spectrum. Meet the new cohort here: milkeninstitute.org/article/leader…
Estamos felices de anunciar que @JMGraglia será parte del programa @fastercures. Desde el principio hemos visto la necesidad de involucrar a las minorías en @cureSYNGAP1 y estamos agradecidos por la oportunidad de compartir nuestras experiencias y aprender de otros en el campo.
Excited to join this phenomenal program & be mentored by remarkable #patientadvocacy executives. Thank you @fastercures/@MilkenInstitute for this opportunity to learn and become a more effective leader for the @cureSYNGAP1 (SRF) & board member of @combined_brain. #SYNGAP1
Ojalá pronto. ¡Es muy importante! Por la salud de los niños y adolescentes. #pediatria y sus #especialidades #neuropediatria
Se renueva el compromiso para el reconocimiento de las 23 especialidades pediátricas, aunando a cerca de 13.000 pediatras. Os dejamos la nota de prensa completa: aeped.es/noticias/aep-c…
Thinking of writing some more blogs, but where to start...? 🤔 1. Yes, you could have done otherwise 2. No, the microbiome doesn't cause autism 3. Yes, sex is real 4. No, your A.I. isn't sentient
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