Elli Brimble
@idreamofgenes
Neurogenetics Counselor now @ciitizen @invitae @foxg1research
ID: 1111437895766691840
29-03-2019 01:20:18
207 Tweet
254 Followers
428 Following
Clement Chow
@clementychow
henfluencer - geriatric millennial - #stopasianhate - don’t call me Clem - emotional eater™️- he/him- @chowlab
W. Michael Korn
@marindoc
Precision oncologist passionate about curing cancer. Chief Medical Officer at @INVITAE. Professor (volunteer) and GI Oncologist @UCSF All opinions are my own.
Prof Ingrid Scheffer
@ingridscheffer
Laureate Professor of Paediatric Neurology at @unimelb, @theflorey, @austin_health, @RCHMelbourne. Research epilepsy, classn, genetics, speech & mentorship
Jason Curry
@jsncurry
Co-founder at The SCN2A Foundation. Previously 4X agency builder (@wearecovalent, @centricdigital, @mutualmobile, @vaimo).
Peter Halliburton
@phalliburton
Raising $$ for #SYNGAP1 🧬 gene therapy // @cureSYNGAP1 501(c)(3) Board // Carter & Presley’s Dad // @cyberark Channel Sales // TX 🇨🇱
Hello
@she33435
Abc
hans p schlecht
@hanspschlecht
#SynGAP1 Papa, Husband, ID and drug dev doc, Science fanboy, #RareDisease Advocate alongside @cureSYNGAP1, Music fan... here to help so just ask *views=my own*
Helen Willsey
@goodfrognosis
Using frogs to dissect psychiatric disorders (she/her)
Becky Sansbury
@aftrtheshock
Emotional Support Specialist | Rare Disease | Palliative Care | Author of "After the Shock" | former hospice chaplain | always a mom
Beacon for Rare Diseases
@rarebeacon
Beacon is a UK-based charity that is building a united rare disease community with patient groups at its heart. Previously known as Findacure.
Stephanie Fischer
@rarepov
#Raredisease patient advocate & #stroke survivor.🦓 Member of @PARareDisease. Opinions are my own.
DNA Today: A Genetics Podcast
@dnatodaypodcast
Best Science & Medicine #Podcast Award Winner 🧬 • #GeneticCounselor @KiraDineen Interviews #Genetic Experts • #DNA #Scicomm #GeneChat
Sebastian Jacoby
@derquizgottt
Mensch - Quizzer - Curler | #gefragtgejagt @gefragtgejagt @dqvquiz @fragenfactory #curling
Tracy Dixon-Salazar
@tracydixonsalaz
Mom. Rare Disease & LGS Advocate. Neuroscientist. The largest most neglected healthcare resource, worldwide, is the patient. Executive Director @LGS_Foundation
Pat Rullo
@speakupradioh
Healthcare Author, Radio Host, rescued by 13 cats. Home to the Firebird Book Awards & Positive Change Podcast Awards. Creative services with a charitable twist.
Natasha N. Ludwig, PhD
@natashanludwig
Neuropsychologist 🧠 @kennedykrieger Assistant Professor @hopkinsmedicine | Rare neurogenetic conditions, epilepsy, ID, ASD, outcome measures
Dena DNA
@denatalksdna
Genetic Counselor 🧬 & Content Creator 🤳🏽 spreading genetic awareness and making it more accessible to all 📲 -Dena Goldberg, MS, CGC #GeneChat #scicomm
mahmut şahin
@sahin_mahmut42
My Gene Counsel
@mygenecounsel
Digital genetic counseling reports for patients and providers that keep you up-to-date.
Manisha Patel
@manisha44510419
Simons Searchlight
@s_searchlight
Accelerating research by collecting data/biosamples from ppl w/rare #genetic causes of #autism & other neurodev dis. Researchers can get data: bit.ly/SFARI_BASE
RASopathies Network
@rasopathiesnet
A 501c3 organization; Our mission is to advance research of the #RASopathies by bringing stakeholders together. #rarediseases @rasnet.bsky.social
FamilieSCN2A
@familiescn2a
Our vision is to find effective treatments and a cure for SCN2A disorders.
Amanda Monty
@amonty74
Boy mom, rare disease mom. Novel variant of YWHAZ/14-3-3ζ presenting as RASopathy-like; #2 pathologic variant of SCN8A LOF
Laura Palmer
@laurapalmer712
Language Arts teacher, parent of 3, lover of reading and running, epilepsy and rare disease mom.
Effie Parks
@onceuponagene
Rare Disease Advocate | Award Winning Podcaster | Speaker | Captain Connection | RareMama to my sweet, Ford, who lives with #CTNNB1 🦓
The Notorious EEG (M. Scott Perry MD)
@thenotoriouseeg
Epileptologist/Head of Neurosciences @cookchildrens, I 💜 #HailState, buffalo wings, art, music & foremost Becky & my daughters. Views are mine, not my employer
Dr. Heather Mefford @hcmefford.bsky.social
@hcmefford
Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
Naomi Wagner
@naomi_cgc
Ocular & rare disease genetic counselor 👁🧬 | @ShileyEye @UCSDHealth 🏥 | @BUMedicine & @pomonacollege 📚 | Opinions my own | she/her
AGE Program - Adult Genetic Epilespy
@drdaniandrade
Professor of Neurology @UofT. Director, #AdultGeneticEpilepsy Program @UHN. Chair of @IlaeWeb #TransitionTaskForce #EpilepsyGenetics #neurotwitter
Juliet Knowles
@julietkknowles
Neuroscientist, pediatric neurologist/epilepsy specialist at Stanford. Mom of 2.
Praxis Medicines
@praxismedicines
Praxis is translating genetic insights into the development of therapies for central nervous system disorders characterized by neuronal imbalance.
Abby Turnwald (she/her)
@pedsgcabby
Pediatric genetic counselor, neurogenetics, advocate for the rare disease community, let’s talk about sibling health
Leah
@leahedscn2a
Founder, Executive Director and Former President of the FamilieSCN2A Foundation. Mom and rare disease advocate of epilepsy and autism, SCN2A-related disorders.
Corey Baysden
@coreybaysden
#RareDisease mom to Saylor w/ #Syngap1 🧬 Director of Community Activation @cureSYNGAP1 🧠Working 2 find a cure for #epilepsy #autism #hypotonia #nonverbal #ID
Heidi Grabenstatter
@patientintv
RDCA-DAP Scientific Director @CPathInstitute, patient advocate, neuroscientist, and proud mom. Opinions are my own.
Uiqoorvee
@uiqoorvee40399
Krystal Stark-Weimann
@starkkryst95548
Mark
@mila94386967
Divorce Father Cryptocurrency Investor America First The Great Trump
Smoysoobl
@smoysoobl50094
Stoty
@stotyivqmh1m
Smeaul
@smeaulvrl4
history
@history658904
Olivier SIBOMANA
@oliviercurie
Founder | Published researcher| #digital and #smart health enthusiast #AI #ML #DL #healthtechnology
Millie
@vasquezmillie13
Neteshi
@neteshi157875
#35
Lethyez
@lethyez83806
#35
The Med13L Foundation
@med13l_fdn
Supporting MED13L families through awareness, research, and community. Connecting hearts and minds to overcome challenges. #NDD #Epilepsy #Autism #ID 🧬💙🧠
Carissa
@wofford44cariss
Serefen
@serefen150843
“Working from the heart with passion is an art!”
みやさとゆきこ
@miyasatoyu28632
John Krisco
@kriscojohn12
orthopedic surgeon doctor
Tania Simoncelli
@taniasimoncelli
Yvonne Kölsch
@yvonne_koelsch
Neuroscientist | Medical Science Liaison in #epilepsy
Lightning and Love Foundation
@mariahgillaspie
Founder of Lightning and Love foundation and mom to two ultra-rare THAP12 genetic epilepsy disease daughters searching for a cure! lightningandlove.org
CureMITO
@cure_mito
Our mission is to unite the global Leigh syndrome community to accelerate patient-centered research, treatments, and cures. #leighsyndrome #mitochondrialdisease
The Scn2a Foundation
@scn2agene
Our mission is to drive & accelerate targeted therapies for SCN2A. Please consider donating to our cause: scn2afoundation.org/donate
The Amal Lab for Precision Medicine
@samalnortheast1
Multidisciplinary lab Led by Research Professor Saeed Amal aims to improve disease diagnosis, treatment and patient care using Artificial Intelligence
CTNNB1 Connect & Cure
@ctnnb1cc
Connecting families, raising awareness, finding treatments and a cure for CTNNB1 Syndrome 🧬💛💙 linktr.ee/ctnnb1
Nolan Boulter
@nolanbelieve
KCNQ2 Warrior
COL6A2
@col6a2
Let's find each other, support those who are looking for a cure for this disease. #col6a2 #col6cmd #colágenovi #musculardystrophy #collagenvi #colvi #col6
Ace Flyer
@sunfirepon5
In the epilepsy battle /Wisdom is power
Jillian McKee
@jillianlmckee
child neurologist | epilepsy neurogenetics | digital health | machine learning/AI enthusiast | physician mom | @ChildrensPhila 🇨🇦🇺🇸
It Happened To Me Podcast
@ihtmpodcast
A #raredisease and #medical challenges #podcast.
Hunt Willard
@hwillardx
Human Genetics, Genomics, Precision Health; scientist/educator/leader in academia, healthcare, and now health tech; ardent fan of all things New England
PK Fox
@pkmfox
Caitlin Nichols, PhD
@caitlinanichols
Science Program Manager @ 23andMe Lung Cancer Genetics Study | @Harvard Biomedical Sciences PhD | #lungcancer #scicomm #raredisease | Views my own
Curedlg4
@curedlg4
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
Lanh Flores
@lanh_flores