M-CM Network
@mcmdotnet
Improving the lives of individuals with macrocephaly-capillary malformation syndrome. M-CM is caused by mosaic PIK3CA mutations. Tweets by @_chrisco
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http://m-cm.net 06-03-2011 04:17:54
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Clement Chow
@clementychow
henfluencer - geriatric millennial - #stopasianhate - don’t call me Clem - emotional eater™️- he/him- @chowlab
L. A. Liggett
@la_liggett
Postdoctoral Fellow studying somatic mutation, CHIP, and leukemogenesis at @BostonChildrens, @broadinstitute, and @harvardmed in the lab of @bloodgenes.
Rare Disease Day
@rarediseaseday
29 February 2024 is Rare Disease Day. Raising awareness for patients, families and carers around the world that are affected by rare diseases. #RareDiseaseDay
Simanshu Dhirendra
@simanshu
Group lead (Structural Biology) at NCI RAS Initiative @FredNatLab; RAS/RAF/PI3K structural biology and drug discovery
christina 🇰🇪
@cmutena
Here to leave the world better than I found it .. 🌻🍷
National Organization for Rare Disorders (NORD)
@rarediseases
National Organization for Rare Disorders (#NORD) is the voice of the U.S. #RareDisease community for 40+ years strong. Official U.S. sponsor of #RareDiseaseDay.
Wilma
@wilmawestenberg
30. Dutch. Traveling around the 🌎 to meet others with the same ultra rare condition (#PIK3CA #PROS). Board member @hevas_nl. Fulltime crochet designer.
Rafid Mustafa
@rafidmustafa
Neurologist @MayoClinic with interests in #HospitalNeurology, #MedEd, #QI | @AANmember @Neurohosp | @IUMedSchool and @MayoNeuroRes alum | Tweets are my own.
Peter Halliburton
@phalliburton
Raising $$ for #SYNGAP1 🧬 gene therapy // @cureSYNGAP1 501(c)(3) Board // Carter & Presley’s Dad // @cyberark Channel Sales // TX 🇨🇱
Nagarajaprakash
@shanam82
Chemist: Supramolecular chemistry, Metal organic cages, Transition metals, Lanthanides, Luminescence.
JMG
@jmg_bmj
Journal of Medical Genetics - a leading international peer-reviewed journal ➡ Original research in human #Genetics #Research #Genomics #RareDisease #Cancer
Lauren Giannetti Sferrazza MS, LGC
@lgthecgc
(she/her/hers) | GC | Oncology MSL Manager @myriadgenetics | opinions are my own |#lgbtqiaally #blm #gcswithdisabilities #genechat
Sara Luterman
@slooterman
Disability and aging reporter @19thnews. Opinions are my own. Send tips to: [email protected]
Joseph G. Gleeson
@jogleeson_ucsd
#UCSD Neurogeneticist studying origins and treatments of pediatric brain disease. CMO of #NLorem, and Neuroscience Director at #RCIGM
Mike Graglia 🌻
@jmgraglia
CEO @cureSYNGAP1 🧬 Pod SynGAP.Fund/10 🎧 Alum @GonzagaU @peacecorps @pdosoros @SAISHopkins @Columbia_Biz @IFC_org @bcg @gatesfoundation @newamerica
American Epilepsy Society
@amepilepsysoc
We support research and education for professionals working towards a world without epilepsy. RTs ≠ endorsements. Also @amepilepsysoc.bsky.social.
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.
Matt Hurles
@mehurles
Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica Ltd. Dad, husband, cyclist, gardener.
Kurtis Kim
@krkurtiskim_kim
Founder, International Foundation of Abdominal Compression Syndromes |Vascular & Endovascular Surgeon | Less than talented composer | Tweets are my own
RarasNoInvisibles
@noinvisibles
Hablamos de salud, enfermedades raras, inclusion social y biomedicina. Escribe @Sombradoble Mas Información: [email protected]
Patient Innovation
@patientinnov
Non-profit, open and global platform aimed at facilitating the sharing of innovative solutions created by patients/caregivers to help them cope with any disease
RASopathies Network
@rasopathiesnet
A 501c3 organization; Our mission is to advance research of the #RASopathies by bringing stakeholders together. #rarediseases @rasnet.bsky.social
Patient Worthy
@patientworthy
We're a resource for engaging, informative content and rare patient news, well done.
M-CM España
@amcmesp
Asociación Macrocefalia Malformación Capilar España
KBG Foundation
@kbgfdn
The KBG Foundation is a 501(c)(3) nonprofit, dedicated to providing support, assisting in research and advocating to raise awareness about KBG Syndrome.
James Fasham
@jamesfasham
🧬👨⚕️Academic Consultant in Clinical Genetics 💬 Social media chair: @ESHGsociety. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
Guillaume Canaud (MD, PhD)
@canaudlab
Translational medicine. Hôpital Necker Enfants Malades/Université Paris Cité.
GoPI3Ks (Genetic Overgrowth PI3K Support)
@gopi3ks
A UK registered charity (1176289) for those living with PROS (PIK3CA Related Overgrowth Spectrum)
Miikka. Vikkula
@miikkavikkula
DiseaseGenes
@diseasegenes
I tweet new human disease-gene associations. Let me know if I miss one! (tweet #MorbidGene) Creator: @JamesFasham #Genomics #RareDisease #Genetics
Cantley Lab
@cantleylab
The Cantley Lab @harvardmed @DanaFarber PI3K | Cancer Metabolism | Cell Signaling | The @KinaseLibrary
VASCERN
@vascern
Gathering the best expertise in Europe to provide accessible cross-border healthcare to patients with rare vascular diseases #ERNeu #RareDiseases
CellSig_Lab
@cellsigl
CellSig is led by Bart Vanhaesebroeck. We aim to improve understanding & drug targeting of the PI3K/PTEN pathway in cancer & beyond. #PI3Kδ #PI3Kactivators
PIK3CA Path Breakers
@pik3capathbreak
We are a group of patient advocates dedicated to improving outcomes for people living with PIK3CA altered breast cancer.
Shahida Moosa #StopTheGenocide
@shahida_moosa
Professor & Head of Medical Genetics @ TBH-passions= #genomics & caring for my patients with #RareDiseases in Africa 🇿🇦🇵🇸 @RareGenomicsRSA
Rosa De Fata
@fata1_rosa
SMART IRB
@smartirb
A national platform to support single IRB review & advance collaborative research, funded by @ncats_nih_gov. Open source & freely available. #CTSAProgram
GroupLaakkonen
@grouplaakkonen
Researching the fascinating world of vascular biology. #DiseaseMechanisms #NewTherapies Check out our group's webpage! Tweets by Johanna Laakkonen and group.
Curtis Coughlin II
@coughlinii
Scientist | Bioethicist | Genetic Counselor
H. Etchevers (she/her/hers) 🐦🐳🦣
@etche_homo
@[email protected] The "Etchevers Lab" now MoPED (Mechanisms of Paracrine & Endocrine Disorders). Not my birthday.
Caroline
@carolinebcu
Lecturer at BCU for Trainee Nursing Associates. Previous School Nurse for CYP who have LD.
Julie Ziobro, MD/PhD
@julieziobro
Physician scientist and pediatric epileptologist trying to figure out pediatric epilepsies. Views are my own.
The Brain Prize
@brainprize
The Brain Prize is the world's largest brain research prize - awarded to researchers with ground-breaking impact on neuroscience. DKK 10 million.
Patrick F. Bloniasz (he/him)
@patrickbloniasz
PhD candidate in Computational Neuroscience at @BU_Tweets; Board President @simplyneurosci. @NSF GRFP Fellow. Anesthesia + Neural Field Potentials
Disability in Genetic Counseling
@disabilitygc
Raising awareness of and support for genetic counselors with disabilities. Email [email protected] to join our group!
Dhananjay Huilgol
@dhananjayhuilg1
Incoming Associate Professor (Scientist IV) @DBT_NBRC. Alumnus: Postdoc @DukeNeuro @CSHL @BBRFoundation YI @HFSP fellow; PhD @TIFRScience; UG @ANDCollege_DU
Suzanne Jones
@suzannevjones
Mother and #Syngap1 advocate working with SRF (Syngap Research Fund) to @cureSyngap1
Ashley Del Dosso
@dossoashley
Ph.D. Candidate in the Quadrato lab at the University of Southern California; Department of Development, Stem Cell and Regenerative Medicine
Tracy Milne
@tracymilne50
PeDRAResearch
@pedraresearch
Pediatric Dermatology Research Alliance: Changing lives of children with skin disease through collaboration and discovery #dermatology #pedsderm #dermtwitter
Kelly Barry, MD, MS
@kellybarry_
MD @TuftsMedSchool | PGY-2 @MedicalCollege dermatology | Former D1 athlete @BCwtennis
CheckRare
@checkrare
Leading publisher and learning platform focused on rare diseases. Rare Diseases Are Our Focus, Expertise, and Passion.
Laura Torella
@laura_torella
Open-minded science lover 🧬 Optimistic and proactive #PhDLife Fan of education, mentoring, communication, and event organization
RHU-COSY
@rhucosy
🧬 RHU-COSY (Cure Overgrowth SYndromes), a scientific consortium to transform the outcome and the medical care of patients with overgrowth syndroms, follow us!
Julia Udaquiola
@julia_udaquiola
Cirujana Pediátrica. Especialista en Anomalías Vasculares. Pediatric surgeon, vascular anomalies. Hospital Italiano de Buenos Aires
Catherine Cottrell
@drmadcatter
Champion of mosaicism, laboratory genetics, and pawed creatures.
Leducq Vascular Malformations Network
@leducq_revamp
ReVAMP Vascular Malformations. Lead by @ArispeLab @MiikkaVikkula @cleaverlab @penningerlab @LabSeyfried, & Tournier-Lasserve Lab. Funded by @FondationLeducq
Sarcoid Awareness Film
@sarcoidfilm
We are producing what will be the first full-length film to focus solely on sarcoidosis awareness!💜 Project Purple 🎥 #sarcoidosis #documentary #filmmaker
Vanessa Coelho-Santos
@vcoelhosantos
Neuroscientist w/a crush on vessels! Junior Leader VCSLab @CIBIT_UC supported by @FundLacaixa |Alumni Postdoc @andyshih_lab |Scientific Consultant @lab_abstract
Alex Bentley
@alexben79752420
I’m moving to Orlando Florida
Bonev Lab
@bonev_lab
Twitter account of the Bonev Lab @PioneerCampus. Tweets by all lab members! @bonevlab.bsky.social
ERA Net Neuron
@eraneuron
ERA-NET NEURON is funded under #H2020 and supports multi-national basic, clinical and translational research in the fields of disease-related neuroscience
Gabriel Morin
@morin_gbrl
Nephrologist, MD, PhD. Translational medicine for mosaic disorders. Studying molecular mechanisms to find cures for rare diseases.
n-Lorem Foundation
@n_lorem
Discovering, developing, and providing personalized experimental ASO medicines to treat nano-rare patients — for free, for life
Haystack Project
@haystackproject
We are committed to the Ultra Rare Disease Community. Bringing together all stakeholders to educate & advocate for reimbursement policies.