Heather Mefford, MD, PhD
Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
@chaserrdad.bsky.social
Co-President of Coalition to Cure CHD2. Father of child with first neurological disease caused by a lncRNA (now published in NEJM). Hunting for a cure. Non-coding disease advocate. Based in Dallas, TX.
@eheinzen.bsky.social
@amoralescgc.bsky.social
Genetic counseling, CV genetics, implementation science. Publication history: https://www.ncbi.nlm.nih.gov/myncbi/ana.morales.5/bibliography/public/
@rdndlab.bsky.social
RDND Lab at King’s College London led by Cristina Dias. Clinical Geneticist and Rare Disease researcher. Rare Conditions, neurodevelopmental disorders of chromatin regulation and chromatin remodeller-TF interactions. https://tinyurl.com/rdndkcl
@oligoclonalband.medsky.social
Pediatric Neurologist/Neuroimmunologist • Editor-in-Chief, Journal of Child Neurology • Chair of AAN History Section • neuron embroiderer • she/her www.neurdgames.com www.Neurdle.com
@oligogirl.bsky.social
Translating science from bench to bedside and from jargon to lay language
@kcnq2.bsky.social
⚡ Supporting breakthroughs for KCNQ2 families 🧬 Research | Advocacy | Hope 🎯 Goal: $100K by 12/31 – Every dollar doubled! ❤️ Join us: https://givebutter.com/2024KCNQ2
@mwheelermd.bsky.social
Physician-scientist @stanford medicine, AHFTC, genomics of rare disease, cardiovascular genetics, exercise multiomics, cardiomyopathy, novel therapeutics and data. #motrpac #UDN #Gregor #CFDE . Husband, kids and cats, mountains and snow. Resist hate.
@stjuderesearch.bsky.social
St. Jude Children's Research Hospital: a leader in research and treatment of pediatric cancer and childhood diseases.
@laurensvdwiel.bsky.social
Postdoc in labs of @mwheelermd.bsky.social and @sbmontgom.bsky.social @Stanford - Exploring the 🧬 basis of rare diseases through multi-omic data integration 👨💻| ❤️ Computer Science best practices in biology | https://www.wiel.science
@geneticssociety.bsky.social
🧬Founded in 1948, the American Society of Human Genetics (ASHG) is the primary professional membership organization for #humangenetics specialists worldwide. www.ashg.org
@gregor-research.bsky.social
The GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) seeks to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders. https://gregorconsortium.org/
@esfa.bsky.social
Postdoctoral Research Associate #StJudeResearch #neurological_disorders #epilepsy #genetics
@agustinafernandez.bsky.social
Rare Mom. IP Lawyer. #GABRA1 #GABRA2 #GABRA3 #GABRA4 #GABRA5 #GABRA6 #GABRB1 #GABRB2 #GABRB3 #GABRG1 #GABRG2 #GABRG3
@aimeedudley.bsky.social
Using the Awesome Power of Yeast Genetics to solve hard problems.
@sohamsg90.bsky.social
Bioinformatics Research Scientist at @stjuderesearch.bsky.social in the @hcmefford.bsky.social lab 🧠
@jmulle.bsky.social
Trained as a geneticist, trying to become a neuroscientist. Also raising two boys and three dogs, dogs are better behaved.
@jamesfasham.bsky.social
🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
@curesyngap1.bsky.social
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
@amepilepsysoc.bsky.social
Official account for American Epilepsy Society. We support research + education for professionals working towards a world without epilepsy. RPs ≠ endorsements.
@jomcinerney.bsky.social
Writing a book about horizontal gene transfer and non treelike evolution. Bioinformatics, Evolutionary Biology. Pangenomes. Chair in Evolutionary Biology. 🇮🇪 http://github.com/mol-evol/panGPT
@akodani.bsky.social
Faculty Investigator HudsonAlpha Institute of Biotechnology #Genetics, #RareDisease, #iPSC, #DrugDiscovery
@geneticscam.bsky.social
The Department of Genetics, @uniofcam.bsky.social : One of the few genetics departments in the UK. https://linktr.ee/camgenetics
@cwlaflamme.bsky.social
she/her/hers | biomed PhD studying 🧬 of 🧠 @stjuderesearch.bsky.social in @hcmefford.bsky.social lab | cat mom 🐱| views are my own
@kidneyomicsamps.bsky.social
Pediatric nephrologist at Boston Children’s Hospital. Obsessed w/genomics to discover causes & cures for pediatric kidney disease #Kidneyomics Sampsonlab.org
@edithalmanzafuerte.bsky.social
Lab Manager for the Mefford Lab | St Jude Research Hospital | 🇲🇽 | 🐻 |
@hc327.bsky.social
#iPSC scientist & #organoids engineer for #RareDisease working on disease modeling & precision medicine. @StJudeResearch, @ubc alumnus🇨🇦
@rmschu.bsky.social
Postdoc in Zoghbi Lab at Baylor College of Medicine | Interested in gene regulation, neurogenetics, variant interpretation, and disease mechanism | Opinions are my own
@maddiegillentine.bsky.social
Geneticist | Research Director @ HNRNP Family Foundation Interested in all things rare disease. BA from Kalamazoo College | PhD from Baylor College of Medicine. Postdoc at UW |Former variant scientist.
@emmagenetics.bsky.social
Working with people living with rare conditions and intellectual disability to build an equitable, respectful and effective model of care. https://research.unsw.edu.au/people/dr-elizabeth-emma-palmer www.geneequal.com www.rarediseasesnsw.org.au
@jaredlittmann.bsky.social
Candidate for Mayor of Annapolis, 2025; by authority of Friends of Jared Littmann, Andre Dillard, Treasurer
@jdbux.bsky.social
Director, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai. Shakuhachi student.
@sthyme.bsky.social
Assistant Professor @ UMass Chan Medical School BMB Department; PhD @ UW Baker Lab; PD @ Schier Lab; Down Syndrome, ID, zebrafish, computation, protein engineering. MomX3!
@nanopharmnc.bsky.social
Neurosci w/ tiny farm. PI of McE lab! AWARD WINNING PEARS! #FriendsWithLyricalGenius #TheEldestMillennial, often found running in the woods, She/Her, views expressed are not as a rep of UNC-CH. www.mcelligottlab.org https://orcid.org/0000-0002-4717-5698
@docbecca.bsky.social
cocktail enthusiast | neuroscientist | SABV influencer | urban gardener | drum learner | she/her Insta: @doc_becca (fun stuff) Signal: @doc_becca.87 (secrets)
@talialerner.bsky.social
Neuroscientist, Associate Professor, Lerner Lab. Dopamine and basal ganglia circuits controlling reinforcement learning and decision-making. Open/inclusive science. Happy working mom of 3. Yale ➡️ UCSF ➡️ Stanford ➡️ Northwestern lernerlab.org
@rarediseasectn.bsky.social
HRB-funded clinical trial network aiming to increase the quantity and quality of rare disease clinical trials in Ireland, keeping the patient voice at our core.
@sciencenlucia.bsky.social
Associate Professor. WSU Elson S. Floyd College of Medicine. Neuroscientist, Computational Biologist #sleep #development #autism #transcription #chromatin #LatinX #academicmama #uruguayan
@tesarlab.bsky.social
GirlDad Professor-CWRU School of Medicine (tesarlab.com) Director-Institute for Glial Sciences (instituteglialsciences.org) co-founder-Convelo Therapeutics (convelotx.com) co-founder-Rise Up Northeast Ohio (riseupnortheastohio.org) glial cell therapies
@madeleineoudin.bsky.social
Tiampo Family Associate Professor at Tufts University, cancer and epilepsy researcher, fierce advocate for diversity and inclusion, mom of a daughter with the SCN8A epilepsy
@htchaolab.bsky.social
Neuroscientist+Child Neurologist. McNair Scholar #RareDisease, #neurogenetics, inhibition/circuits, #autism, #epilepsy, & brain disorders. RT≠endorse.
@elisabethbik.bsky.social
Science integrity consultant and crowdfunded volunteer, PhD. Ex-Stanford University. Maddox Prize/Einstein F Award winner NL/USA/SFO. #ImageForensics @MicrobiomDigest on X. Blog: ScienceIntegrityDigest.com Support me: https://www.patreon.com/elisabethbik