Christy LaFlamme (she/her)
she/her/hers | biomed PhD studying 🧬 of 🧠 @stjuderesearch.bsky.social in @hcmefford.bsky.social lab | cat mom 🐱| views are my own
@eshg.bsky.social
The ESHG is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims.
@umpastormom.bsky.social
I’m an ordained UMC elder, mother of 2, bonus mom of 3, wife of the most fantastic human I know, midcentury modern glass collector, artist, and righteously indignant advocate for the underdog. She/her/hers 🩷❤️🧡💛💚🩵💙💜🖤🩶🤍🤎
@hnrnpfamily.bsky.social
Nonprofit dedicated to improving the lives of those affected by HNRNP-Related Neurodevelopmental Disorders through community and research.
@rikkesmoller.bsky.social
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰 I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
@blackinneuro.bsky.social
A grassroots movement turned non-profit organization with a mission to diversify the neurosciences by building a community that celebrates and empowers Black scholars and professionals in neuroscience-related fields.
@aaronquinlan.bsky.social
Origins and consequences of genome mutation; software for genomic discovery. Prof. and Chair of Human Genetics at U. of Utah. https://www.genetics.utah.edu/ http://quinlanlab.org
@cathyabbott.bsky.social
Professor, eEF1A2/neurological disorders. Mostly talks about research, EDI (tries hard to be a good ally) but sometimes veers off into crafts and photos of Scotland. She/her, views own.
@ksamocha.bsky.social
Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
@anneotation.bsky.social
Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
@drjennylord.bsky.social
Lecturer in Systems Biology at the University of Sheffield. Interested in bioinformatics, RNA, splicing, big data, rare disease diagnostics and neuroscience. Also dogs.
@aphillippy.bsky.social
Finished a human genome, working on a few more 👨💻 Lab: https://genomeinformatics.github.io Posts are my own
@ahoischen.bsky.social
Genomic technologies: WES/WGS, long-read sequencing, optical genome mapping, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis https://shorturl.at/MxQ7O https://www.immuno-genomics.com
@kearneylab.bsky.social
Neuroscience | Genetics | Pharmacology | Epilepsy | Neurodevelopmental Disorders | Targeted therapeutics | Northwestern University, Chicago | Opinions are my own 🧪👩🔬🧠🧬💊
@sedlazeck.bsky.social
@mikeschatz.bsky.social
Bloomberg Distinguished Professor at Johns Hopkins University. http://schatz-lab.org
@pgtimmune.bsky.social
Department of Host-Microbe Interactions, St. Jude Children’s Research Hospital Memphis, TN TCRs, influenza virus, anti-tumor immunity, books, dogs, Venice
@htchaolab.bsky.social
Neuroscientist+Child Neurologist. McNair Scholar #RareDisease, #neurogenetics, inhibition/circuits, #autism, #epilepsy, & brain disorders. RT≠endorse.
@geneticscam.bsky.social
The Department of Genetics, @uniofcam.bsky.social : One of the few genetics departments in the UK. https://linktr.ee/camgenetics
@jamesfasham.bsky.social
🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
@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/
@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
@stjuderesearch.bsky.social
St. Jude Children's Research Hospital: a leader in research and treatment of pediatric cancer and childhood diseases.
@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.
@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
@esfa.bsky.social
Postdoctoral Research Associate #StJudeResearch #neurological_disorders #epilepsy #genetics
@sohamsg90.bsky.social
Bioinformatics Research Scientist at @stjuderesearch.bsky.social in the @hcmefford.bsky.social lab 🧠
@victoriahonnell.bsky.social
Developmental Neurobiologist | Postdoc in the Amamoto lab at @harvardmed.bsky.social /MEEI studying regeneration | @stjude.bsky.social alum | NIH DSPAN | BWFUND PDEP
@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.
@esbonkowski.bsky.social
Research Genetic Counselor (& Public Health Genetics PhD student) Interests in neurogenetics, bioethics, and precision medicine for kids 🧬🧠💜 Science is real, views are mine (she/her)
@hc327.bsky.social
#iPSC scientist & #organoids engineer for #RareDisease working on disease modeling & precision medicine. @StJudeResearch, @ubc alumnus🇨🇦
@erichall.bsky.social
Assistant Professor at University of Manitoba, studying Cytoneme signaling in development and disease. Building new methods for tissue preservation.
@lindsayschwarz.bsky.social
Asst Prof, St. Jude Children's Research Hospital, neural circuits/norepinephrine, mom, sewist
@hcmefford.bsky.social
Physician scientist @ St. Jude (neuro)genetics | genomics epilepsy | rare disease | precision medicine
@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
@rasnet.bsky.social
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease by Stronach in Pittsburgh
@neurodevkathy.bsky.social
Tweets about dev biol, neurodev genetics, random cool science + life; usually with typos, so many typos
@scn2a.bsky.social
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our team of leaders strive every day and, in every way, to improve the lives of not only the patients, but the entire family.
@christeldepienne.bsky.social
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
@csaninocencio.bsky.social
Qualitative health communication researcher with a focus on rare epilepsy. Assistant Professor of Communication. LGS sibling. Founder, LGS Foundation; Board, Coalition to Cure CHD2; Advisor, FamilieSCN2A; Chair, Rare Epilepsy Network. LI, NYC & CT
@thevgccc.bsky.social
Raising awareness & promoting collaboration across the #calcium #channelopathies. Composed of caregivers & individuals impacted by the channelopathies, alongside researchers and clinicians focused on the 10 calcium genes. https://www.thevgccc.org
@curedravet.bsky.social
The mission of DSF is to raise funds for research into Dravet syndrome and related epilepsies, while offering support to patients and families. https://dravetfoundation.org
@lauren80.bsky.social
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.
@curechd2.bsky.social
Patient advocacy group serving those affected by CHD2, a rare developmental & epileptic encephalopathy (DEE) associated w/Jeavons/EEM, photosensitive seizures, autism + intellectual disability. Accelerating research & supporting community www.curechd2.org
@curesyngap1.bsky.social
SRF, est 2018, exists to improve the quality of life of SynGAP patients through the research and development.