CACNA1A Foundation @cacna1a
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. cacna1a.org Joined April 2020-
Tweets577
-
Followers2K
-
Following2K
-
Likes3K
Patient groups are rarely invited to speak at scientific meetings so we are honored to be included on this incredible agenda for the SRCA meeting happening next month. Thank you @Shaikh_Lab for integrating the patient perspective and increasing the visibility of our work.
Patient groups are rarely invited to speak at scientific meetings so we are honored to be included on this incredible agenda for the SRCA meeting happening next month. Thank you @Shaikh_Lab for integrating the patient perspective and increasing the visibility of our work.
Thank you @RFK_IDDRC @EinsteinMed for highlighting #CACNA1A in your recent paper on Operation IDD Gene Team and showing the impact you can have on research and clinical care when families are empowered to become partners with physicians and scientists after a rare diagnosis.
Thank you @RFK_IDDRC @EinsteinMed for highlighting #CACNA1A in your recent paper on Operation IDD Gene Team and showing the impact you can have on research and clinical care when families are empowered to become partners with physicians and scientists after a rare diagnosis.
🧬 TODAY is #CACNA1A Awareness Day! Share our posts & support our work. 💜 Every March 19th, we come together as a global community to shine a light on CACNA1A disorders. 💙 All donations today will have TRIPLE the impact thanks to matching donors! cacna1a.networkforgood.com/projects/16854…
#CACNA1A board member Dr. Ondrasik on her takeaway from @TheACMG mtg: a lot of discussion regarding “utility” of a genetic diagnosis when there is not a specific treatment….as parents we need to voice how important it is to receive a diagnosis and end our #DiagnosticOdyssey.
Congratulations @SamYoungLab on being awarded Team #CACNA1A @MDBRide4Rare grant for “Development of a Novel Viral Vector Gene Therapy Approach to Treat CACNA1A Cerebellar Disorders”! Thank you to everyone who contributed to this effort and @ODC_UPenn for your partnership
Congratulations @SamYoungLab on being awarded Team #CACNA1A @MDBRide4Rare grant for “Development of a Novel Viral Vector Gene Therapy Approach to Treat CACNA1A Cerebellar Disorders”! Thank you to everyone who contributed to this effort and @ODC_UPenn for your partnership
Register for our July 19-20, 2024 conference. The agenda will include a mix of research, clinical and support topics. Families, caregivers, clinicians, researchers and industry professionals are welcome to attend in person in Bethesda, MD or virtually. cacna1a.org/cacna1a-confer…
EARLY BIRD REGISTRATION IS OPEN for our 2024 Creating Connections #CACNA1A Conference in Bethesda, MD. From July 19-20, 2024 join us in-person or virtually. You will hear from leading clinicians and researchers as well other families on this journey. cacna1a.org/cacna1a-confer…
We’re heading home from #AES2023. It was a productive few days of promising research updates, meeting new friends, reunions with collaborators and networking to further our mission to #CureCACNA1A. Thank you @AmEpilepsySoc! @lbhmana @PangkongFox
Exciting (and historic) day at #AES2023: our first co-authored poster with members of our CACNA1A Research Network. This represents the largest dataset on #CACNA1A. #CollaboratingForACure @Laina_GC @PangkongFox @IngoHelbig @BCH_PoduriLab @LalDennis @nupharm1 @lbhmana
Grateful to have @LalDennis and his team as part of the #CACNA1A Research Network, building our variant database and leading our variant classification working group…among all his other projects. Do you ever sleep?!
Grateful to have @LalDennis and his team as part of the #CACNA1A Research Network, building our variant database and leading our variant classification working group…among all his other projects. Do you ever sleep?!
Stop by our @AmEpilepsySoc booth to learn more about CACNA1A-related epilepsy and the research we are funding #AES2023 #CureCACNA1A
Our team is in Orlando for @AmEpilepsySoc mtg. Today, we went to the Channelopathy-Associated Epilepsy Research Center Without Walls investigator mtg, a model approach to collaborative research. Thank you @nupharm1 for inviting us. If you're at #AES2023, stop by our booth 639!
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.
Ingo Helbig @IngoHelbig
3K Followers 349 Following Child Neurologist, epilepsy genetics researcher, blogger
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
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 🦓
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. Heather Mefford @hcmefford
3K Followers 948 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
Ana Mingorance @CNSdrughunter
3K Followers 1K Following 🧠 🧬 Neuroscientist. Looking for new medicines for CDKL5, SCN1A, SHANK3, DHPS and a few others.
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
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
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.
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
BarabanLab @BarabanLab
3K Followers 3K Following Translational epilepsy research in an academic setting | neuroscience, drug discovery, zebrafish, electrophysiology, cell therapy, precision medicine and more
Allan Bayat, postdoc .. @AllanBayat
1K Followers 643 Following Pediatrician/translational researcher #epilepsy #genetics #precisionMedicine #raredisorders #neurotwitter #EpilepsyAwarenessMonth @UCPH_BRIDGE @UCPH_research
Leah @LeahEDSCN2A
947 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.
AGE Program - Adult G.. @DrDaniAndrade
2K Followers 713 Following Professor of Neurology @UofT. Director, #AdultGeneticEpilepsy Program @UHN. Chair of @IlaeWeb #TransitionTaskForce #EpilepsyGenetics #neurotwitter
DEE-P Connections @DEE_Pconnection
757 Followers 412 Following Connecting families with severe developmental & epileptic encephalopathies to information, resources and each other
n-Lorem Foundation @n_lorem
1K Followers 572 Following Discovering, developing, and providing personalized experimental ASO medicines to treat nano-rare patients — for free, for life
International SCN8A A.. @SCN8AAlliance
764 Followers 467 Following The International SCN8A Alliance is working collaboratively with families, clinicians and researchers to advance the understanding of and treatments for SCN8A.
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.
Karina Bravo @k_bravo1
7K Followers 6K Following Bioquímica Usach/Dra. en Neurociencia/PhD in Neuroscience/woO59. Latina postdoc Neurology U Iowa. Opiniones personales.
Luca de Palma @LucadePalma8
208 Followers 218 Following MD Neurologist, Bambino Gesù Children Hospital
Maya-rose Doyon @DoyonRo
35 Followers 5K Following
Jehee Suh @JeheeSuh
9 Followers 126 Following
Deon Raterman @rater_deo
72 Followers 5K Following
Ddumba Gerald @DdumbaG
141 Followers 618 Following Humility is by people for People, and People changes the Earth. #Nature #conservationist #ClimateChange #Farmer #Organic_Agriculture
Gracie-mae Murphree @MurphreeMa75391
85 Followers 5K Following
Nick Frost @Nickfrostneuro
431 Followers 580 Following Cognitive Neurologist / Systems Neuroscientist / Dad
. @Anonymouseowl
260 Followers 2K Following Not interested in labels or titles, only character. Fan of evidence-based reasoning. Views are mine and many others, but not my employers.
Aisha Defino @AishaD24336
41 Followers 5K Following
Navneet Matharu @navneetkmatharu
350 Followers 674 Following
Lena Nembhard @l_nembh
86 Followers 5K Following
Aya Steinau @AyaSteinau44768
87 Followers 5K Following
zoffla @zoffla1
40 Followers 168 Following
Mrs. Bond @MrsBond111
117 Followers 177 Following Denial is part of the grieving process and the world is grieving the old normal. -- GB
Laura Martin @lmponderings
112 Followers 1K Following OT and Health Coach but more importantly lover of coffee, good conversations and adventures!
MRD @MRD85367605
189 Followers 986 Following
Simone @SimonePands1111
1K Followers 4K Following Alberta Public Health RN, BScN, IBCLC, 🇨🇦who likes reading quality scientific studies and sharing informed Covid-19 global health impacts. Politics too
AllyAlly @AllyKeyLime
2K Followers 3K Following FAR UVC 222nm, masks for doctor/dentist/hospitals/public transpo/pharmacies/grocery. Organs matter. CFS. MCS. Protect Animals. Ⓥ XRP🪙
Theia Bashinelli @TBashinell24657
90 Followers 5K Following
Maya Chopra @Maya__Chopra
103 Followers 123 Following Clinical Geneticist. Researcher. Uniquely global experience and perspective🇦🇺 🇨🇳 🇫🇷 🇺🇸
Natalie Moore @NatalieMoo83161
9 Followers 762 Following
Colleen Okoren @ColleenOkor
67 Followers 5K Following
Maj Mel Mann, Ret., M.. @MelDMann
502K Followers 260K Following WORLD’S LONGEST LIVING GLEEVEC & Tyrosine Kinase Inhibitor TKI Survivor, 29 Yr #CML Survivor, CONNECT IF YOU’RE CONNECTED TO CANCER OR CLINICAL TRIALS, ΩΨΦ
Leigh Lencioni @leig_lenci
90 Followers 5K Following
BCM Child Neurology &.. @BCMChildNeuro
960 Followers 434 Following The Child Neurology and NDD Programs at @BCMHouston are fully accredited programs that provides opportunities to study neurological diseases of children.
Dean Cacciatore @DeanLulu1024
5 Followers 19 Following
Archan Ganguly @ganguly_archan
126 Followers 235 Following Neuroscientist. Cell Biologist. Big Year dreamer. Assistant Professor @URNeuroscience.
Daniela Robles @danie.. @daniela_oaks
8K Followers 7K Following Studying cancer genomics in Latin America. PI @LIIGH_UNAM /Int'l Fellow @SangerInstitute /PhD @Cambridge_Uni /BSc @lcgunam. Views are my own. She/her/hers
Louanne Montie @mon_louan
30 Followers 5K Following
Marcus Ng @spikewhisperer
1K Followers 761 Following Epileptologist, Dreamspike research lab director, Associate Prof of Neurology, Associate Editor @JClinNeurophys. RT≠endorsements. Views are my own.
Juan Pablo Appendino @appendinojp
266 Followers 341 Following I am a paediatric neurologist, an epileptologist and a proud father/husband... :)
Chiara Ferrazzoli @Chiaferraz
46 Followers 132 Following
Jayda Kahuhu @kahu_jayd
93 Followers 5K Following
Belle Nemani @BelleNeman
27 Followers 5K Following
Silvia Desario @DSil19583
0 Followers 11 Following
Fiorella Postal @FiorelPost
31 Followers 5K 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
American Nystagmus Ne.. @nystagmusorg
363 Followers 10 Following Improve the quality of life for all persons and families affected by #Nystagmus, through organized community support, education, and public awareness.
Soiza-Reilly Lab🇦�.. @MSoizaReilly
833 Followers 696 Following Serotonin, Synapses and Circuits in Neurodevelopmental Psychiatric Disorders @IFIBYNE @CONICETDialoga @Exactas_UBA @UBAonline
Domonique Rattner @DomoniqueR78801
86 Followers 5K Following
Aisha W @nanamedico
58 Followers 180 Following Medical doctor 'Na only book you know' 🤓 Paediatrics 🧒 Genetics 🧬 Research 🔍
Haley Naillon @hale_nail
45 Followers 5K Following
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.
Ingo Helbig @IngoHelbig
3K Followers 349 Following Child Neurologist, epilepsy genetics researcher, blogger
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
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 🦓
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.
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
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. Heather Mefford @hcmefford
3K Followers 948 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
Ana Mingorance @CNSdrughunter
3K Followers 1K Following 🧠 🧬 Neuroscientist. Looking for new medicines for CDKL5, SCN1A, SHANK3, DHPS and a few others.
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
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
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.
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
BarabanLab @BarabanLab
3K Followers 3K Following Translational epilepsy research in an academic setting | neuroscience, drug discovery, zebrafish, electrophysiology, cell therapy, precision medicine and more
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
Ardem Patapoutian @ardemp
51K Followers 297 Following @scrippsresearch Professor. @HHMINEWS Investigator. @NobelPrize Physiology or Medicine 2021. Research: touch & other forms of pressure sensing
Allan Bayat, postdoc .. @AllanBayat
1K Followers 643 Following Pediatrician/translational researcher #epilepsy #genetics #precisionMedicine #raredisorders #neurotwitter #EpilepsyAwarenessMonth @UCPH_BRIDGE @UCPH_research
Leah @LeahEDSCN2A
947 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.
AGE Program - Adult G.. @DrDaniAndrade
2K Followers 713 Following Professor of Neurology @UofT. Director, #AdultGeneticEpilepsy Program @UHN. Chair of @IlaeWeb #TransitionTaskForce #EpilepsyGenetics #neurotwitter
Carol Ann Remme @CarolRemme
1K Followers 404 Following Assoc Prof Translational Cardiac EP @amsterdamUMC | @escardio Communications Comm, Council on Basic CV Science | Dep Editor @physiolrev | Dep Editor #Europace
Luca de Palma @LucadePalma8
208 Followers 218 Following MD Neurologist, Bambino Gesù Children Hospital
Prachi Parikh @PrachiParikhMD
325 Followers 207 Following Neurologist/Epileptologist at Duke University, Alum of Cleveland Clinic Foundation. All opinions are my own and do not represent my institution.
Nick Frost @Nickfrostneuro
431 Followers 580 Following Cognitive Neurologist / Systems Neuroscientist / Dad
Navneet Matharu @navneetkmatharu
350 Followers 674 Following
Sage Clinical Med @SageClinMed
3K Followers 1K Following Follow us for the latest info on Sage clinical medicine journals, as well as general news items of interest.
Therapeutic Advances .. @TARareDisease
633 Followers 1K Following A SAGE gold open access journal | Publishing high-quality articles in the field of rare disease | Launched in 2020 | Editor @Urvalind | #TARareDisease
TSA @TimothySyndrome
109 Followers 74 Following Timothy Syndrome Alliance is dedicated to research, education and supporting families affected by #LongQT 8 and #TimothySyndrome
Michelle Fay Cortez @FayCortez
17K Followers 1K Following Senior medical reporter and health editor for Bloomberg News, now coming to you from Asia! Tips & tricks: [email protected].
Alina Trofimova @lineurart_1
7 Followers 13 Following #neurobiology #electrophysiology #epilepsy https://t.co/sAOpKWS1Iv
MedGen_WashU @MedgenW
401 Followers 216 Following We take pride in providing comprehensive & compassionate clinical care, conducting top-level research,& teaching trainees the art of genetics & genomic medicine
The Lilly and Blair F.. @LillyandBlair
33 Followers 56 Following The Lilly and Blair Foundation is dedicated to creating a better future for our girls and others afflicted with de novo Hereditary Spastic Paraplegia SPG4.
Nicole Teaney @nicole_teaney
185 Followers 74 Following Neuroscientist | Brain and behavior enthusiast 🧠
Elizabeth Barkoudah @ElizabethBarko1
339 Followers 110 Following PD #NDD Residency @Bostonchildrens. Co-director of the #CerebralPalsy & Spasticity Program. #Sewing is my superpower. #MedEd, #PedsNeuro, #CP, #PhysicianMom
Maya Chopra @Maya__Chopra
103 Followers 123 Following Clinical Geneticist. Researcher. Uniquely global experience and perspective🇦🇺 🇨🇳 🇫🇷 🇺🇸
WU IDDRC @WU_IDDRC
122 Followers 179 Following Intellectual and Developmental Disabilities Research Center at Washington University in St. Louis
Society for Behaviora.. @SBCNeuro
66 Followers 81 Following Serves clinicians interested in brain-behavior relationships & disorders with neurocognitive & neuropsychiatric difficulties. RTs ≠ endorsements or advice.
Coco (Chengliang) Don.. @DongCoco90417
58 Followers 109 Following Genetic data scientist at Deerfield Management
Matt Nelson @mnelsonxy
164 Followers 120 Following Husband. Father. Triathlete. Scientist devoted to improving drug discovery and development through human genetics.
Joao Pereira @jdpereira
6K Followers 5K Following Interested in neurodegeneration, deep learning, organoids and iPSCs! Also mentoring and science careers! Scientific Director iPSC NeuroCore Yale University
Altitude Lab @AltitudeLab
461 Followers 71 Following We connect diverse #bio/health tech #entrepreneurs to resources they need to make a healthier future possible. A @RecursionPharma incubator
Chandana Batchu Haque @Chandanananana
237 Followers 142 Following Kinase cascades make me giggle. Executive Dir. @AltitudeLab @recursionpharma Science lover, cofounder, & mama
Irene Gallego Romero .. @ee_reh_neh
2K Followers 709 Following I don't always tweet about science, but when I do, it's frequently sarcastic. Human evolution, genomics & diversity in STEM. Occasional polyglot, figureskater.
Daniela Robles @danie.. @daniela_oaks
8K Followers 7K Following Studying cancer genomics in Latin America. PI @LIIGH_UNAM /Int'l Fellow @SangerInstitute /PhD @Cambridge_Uni /BSc @lcgunam. Views are my own. She/her/hers
Sharon Plon @splon
3K Followers 299 Following Medical Geneticist, ClinGen investigator, researcher and Asst Dean at Baylor College of Medicine. Opinions my own.
Alan Rubin @rubin_af
843 Followers 877 Following Trying to figure out what genomic variants do. Computational biologist at @WEHI_research. Previously @uwgenome. Mastodon: https://t.co/6EtfEJxhLP
Lara Muffley @LaraMuffley
453 Followers 1K Following Research Scientist with the Fowler Lab @uwgenome and Program Manager for CMAP, CAVA and the Atlas of Variant Effects Alliance | she/her 🏳️🌈
Shawn Fayer @ShawnFayerGC
385 Followers 548 Following Genetic counselor and PhD candidate at @uwgenome. Using deep mutagenesis to reduce uncertainty in genetic testing.
Mike Pazin @MikePazin
242 Followers 242 Following Opinions are mine. I like science, music, photography, and learning how things work.
Atlas of Variant Effe.. @varianteffects
1K Followers 106 Following Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation. https://t.co/rn6DbRZNU8
BCM Child Neurology &.. @BCMChildNeuro
960 Followers 434 Following The Child Neurology and NDD Programs at @BCMHouston are fully accredited programs that provides opportunities to study neurological diseases of children.
Shannon DiCarlo @callmedrdicarlo
48 Followers 59 Following
Julian Halmai @julianhalmai
286 Followers 219 Following #Postdoc @Finklab @ucdavisstemcell working on epigenetic editing in rare genetic epilepsies | #CDKL5 #MECP2 #Rettsyndrome
Lauren Treat @DrTreatTweets
93 Followers 71 Following pediatric neurologist, palliative medicine doc, mother/wife/daughter/sister, and advocate for meaning and courage in challenging times
IAPRD @PRDAssociation
1K Followers 750 Following Promoting research and advancing knowledge of Parkinson's disease and other movement disorders
Ai-Huey Tan @AihueyTan
77 Followers 50 Following Associate Professor & Consultant Neurologist, Universiti Malaya
Movement Disorders In.. @mdsieditor
1K Followers 105 Following Movement Disorders Society of India, is a professional medical society of people working / interested in Movement Disorders in India.
RaviYadav NIMHANS @docravi20
514 Followers 167 Following Neurology, Movement Disorders and Sleep Medicine
Macy Foundation @macyfoundation
3K Followers 1K Following The Josiah Macy Jr. Foundation is dedicated to improving the health of the public by advancing the education and training of health professionals.
Subhojit Roy, MD, PhD @Roy_Lab_Thinks
4K Followers 2K Following Science. Music. Sometimes funny. https://t.co/S6hf1G42O1
Archan Ganguly @ganguly_archan
126 Followers 235 Following Neuroscientist. Cell Biologist. Big Year dreamer. Assistant Professor @URNeuroscience.
Mark Fitzgerald @mpfitzgerald
13 Followers 18 Following Pediatric neurologist and epileptologist and Medical Director of the Epilepsy Neurogenetics Initiative at Children’s Hospital of Philadelphia
Cold Spring Harbor La.. @CSHL
38K Followers 1K Following Non-profit research and educational institution at the forefront of molecular biology, cancer, neuroscience, plant biology, and genetics.
Dr. Sonika Agarwal, M.. @AgSonika
859 Followers 491 Following Fetal-Neonatal Neurologist, Maternal Fetal Medicine, Physician/Educator/Mentor/Coach. Director Resident Fellow Board @JChildNeurol. BOD @Child_neurology.
Mikael Guzman Karlsso.. @GuzmanKarlsson
200 Followers 356 Following Neurodevelopmental Disabilities resident physician at Texas Children’s Hospital | Baylor College of Medicine. Interested in neurogenetics, DEI, cycling & music.
Breakthrough @brkthroughprize
16K Followers 4K Following https://t.co/9GYO8CWEZn https://t.co/Kr8KjZmhqO https://t.co/Br7xTUAH4N
Chia-Chun Chiang, MD @ChiaChunChiang
921 Followers 516 Following Headache Specialist, Stroke Specialist, Neurologist, Assistant Professor of Neurology at @MayoClinic
Vega Shah @dr_alphalyrae
12K Followers 3K Following life sciences software 🧬 product strategy 👩🏻💻 writer & futurist 🚀 previously scientist at @JGI, @UW & @UCBerkeley 👩🏻🔬 views are all mine ✨@cacna1a @TARareDisease @PangkongFox Tremendous work! Well done.
Kicking off @GlobalGenes Rare Drug Development Symposium with an Opening Keynote by @ChanZuckerberg focusing on how advocates and patient communities can dramatically alter the landscape of rare research. #RDDS #CareAboutRare #Philadelphia #LillyandBlair #SPG4
In our @Nature paper published last week, we identified a potential therapeutic for Timothy Syndrome (TS) using human neural #organoids, #assembloids and neurons from TS patients transplanted into rats. Here’s a more detailed description of what we found 👇
Honored to be a part of the work being done at the @cacna1a foundation.
Excited to announce our first published journal article now online in @TARareDisease as part of its special issue for #rare #epilepsy research. It highlights the clinical trial readiness work spearheaded by the Foundation that support research for all #CACNA1A disorders.
All rare diseases deserve a chance st treatment no matter how rare! Thank you @RareRevolutionM for sharing my story. #rarebone @MGHBoneResearch shout out to Dr. Jueppner and Dr. Gardella for leading the way for ultra rare disease like Jansen's!
@NeenaNizar would be the first to admit she had no experience of the world of rare disease drug development. However, in just under a decade she has helped advance research towards a viable treatment for her ultra-rare bone disease. bit.ly/WomeninRare-Ne… #WomenInRare
The study of rare diseases benefits everyone!
Such a thrill to see our work on developing genetic theraputics for Timothy Syndrome on the cover of @Nature today. One of the most gratifying projects i've ever worked on, alongside @XiaoyuChenxy with @Sergiu_P_Pasca at the helm. Excited for what lies ahead for dev. theraputics!
Today, I’m thrilled have our lab’s work featured on the cover of @Nature In this article, we have developed a therapeutic approach for a severe condition called Timothy syndrome. This has been a long journey. It started with making hiPS cell-derived neurons in 2D cultures 15…
We developed a potential therapy for Timothy Syndrome. We hope one day we can reach bedside! Immensely grateful for my exceptional mentor @Sergiu_P_Pasca and co-first author @fikribirey, and contributing authors @Minyin_Li @RevahLab @RebeccaJLevyMD @TheteMayuri and everyone!
Today, I’m thrilled have our lab’s work featured on the cover of @Nature In this article, we have developed a therapeutic approach for a severe condition called Timothy syndrome. This has been a long journey. It started with making hiPS cell-derived neurons in 2D cultures 15…
Antisense oligonucleotide therapeutic approach for Timothy syndrome dlvr.it/T5zTxX
Excited to have contributed to this work by Dr Chen, @fikribirey @Sergiu_P_Pasca and so many others to try to discover a way to help #timothysyndrome and thankful always to @tsa_charity @TimothySyndrome and the TS Foundation
Today, I’m thrilled have our lab’s work featured on the cover of @Nature In this article, we have developed a therapeutic approach for a severe condition called Timothy syndrome. This has been a long journey. It started with making hiPS cell-derived neurons in 2D cultures 15…
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
Targeting RNA opens therapeutic avenues for Timothy syndrome dlvr.it/T608QX
The #SCN2A Clinical Trials Readiness Study was one of the Foundations most strategic investments. Designed by KOLs and led by Anne Berg this groundbreaking work dives deep into how to measure meaningful change in our patient community. academic.oup.com/brain/advance-…
Congrats @Sergiu_P_Pasca's lab - elegantly demonstrating a route to a potential cure for TS1. It is groundbreaking, and through in vivo experiments including cells from TS1 individuals shows that antisense oligonucleotides (ASO) could provide a therapy for our community. 1/6
Today, I’m thrilled have our lab’s work featured on the cover of @Nature In this article, we have developed a therapeutic approach for a severe condition called Timothy syndrome. This has been a long journey. It started with making hiPS cell-derived neurons in 2D cultures 15…
Today, I’m thrilled have our lab’s work featured on the cover of @Nature In this article, we have developed a therapeutic approach for a severe condition called Timothy syndrome. This has been a long journey. It started with making hiPS cell-derived neurons in 2D cultures 15…
New lab photos just dropped on snelllab.org and 🥰🥰🥰. Thank you @KavliAtYale For the great photos!!
If only there were frequent flyer miles for the medically complex #RareDiseaseTruth
Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders. doi.org/10.1093/brain/… This paper was the result of an extensive collaboration between investigators at @NUFeinbergMed and @FamilieSCN2A. #SCN2A #ionchannels #epilepsy #Autism
One voice can create change. Please know your rare voice matters. "The Butterfly Effect" to help describe the complex idea of chaos theory. It describes how a very small change in the initial state can result in large differences in a later state. One person can set a chain of…
Thank you to @SBCNeuro for this great honor. I am humbled and grateful. I shared three thoughts in my remarks.
While only getting started....congratulations to Prof. Jeremy Schmahmann for his receipt of the Society for Behavioral & Cognitive Neurology (@SBCNeuro) Lifetime Achievement Award. Transformative work at the intersection of the cerebellum & cognition. @SchmahmannLab @MGHNeurology
Trends for United States
You might like
