Pioneering Enzyme Replacement Therapies for Lysosomal Storage Diseases. https://www.zythera.com
Clinical Neuropsychologist. Regional Specialist Memory Clinic. Humans being nice to all types of other humans. She/her. 🇵🇸 #stopthegenocide
Paediatrician
Dublin Ireland
Senior Research Fellow, Associate Lecturer @ucl.ac.uk | AAV, Promoters & GREs 🧬 | PhD CNS #GeneTherapy 🧠 | #BSGCT Board ECR | Teaching, science communication
☀️🏊♂️🦖
Research Assistant and Flow Cytometry Coordinator at St Vincent's Institute of Medical Research | Immunology and Type 1 Diabetes | Cell Therapy and Precision Medicine | T-Cell Enthusiast
Views are my own and NOT those of my employers/institutions.
Supporting children and families living with NKH
A patient organization that advocates and supports those living with HCU, MSUD, PKU and UCDs (along with other allied disorders). These disorders are all prescribed a medical nutritional therapy low in natural protein in order to avoid major side effects.
Mitochondrial Research Group @newcastleuni.bsky.social
Working together to improve our understanding of mitochondrial function in health and disease
#Mitochondria #MitoResearch #Science #Genetics #BiomedicalResearch #TranslationalMedicine #MedicalScience
Specialist centre for clinical care & research in mitochondrial diseases, The National Hospital for Neurology. Co-leads Profs @RobPitceathly.bsky.social & Mike Hanna
ucl.ac.uk/centre-for-neuromuscular-diseases/patient-services/london-mitochondrial-centre
Full Professor of Inherited Neurometabolic Diseases and Newborn Screening at Amsterdam UMC
E.S.PKU - European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria in the umbrella organization of about 41 national and regional associations from 31 countries established by parents and/or patients.
Professor of Neurogenetics at the Department of Clinical Neurosciences, University of Cambridge, UK
Alex Puissant, Ph.D., is a Principal Investigator in the Hematology-Oncology Department at the Saint Louis Research Institute & Hospital, Paris, France.
The Human Mitochondrial DNA Replication and Gene Expression Team at the University of Gothenburg
http://falkenberglab.org
http://gustafssonlab.org
Passionate about #GWAS #Metabolomics #Proteomics #Glycomics #Epigenomics, Professor @WeillCornell
Medicine - Qatar, Blog on http://metabolomix.com, http://suhre.fr
Medical genetics and all things for healthy kids. Thoughts my own.
Using the Awesome Power of Yeast Genetics to solve hard problems.
Research Assistant Professor of Biochemistry and Biophysics | Director, Johnson Foundation Biophysics and Structural Biology Core Facility | Univ of PA | he/him
Pediatric neurologist. Interests: neuromuscular medicine, pediatric neurocritical care & more. University Children's Hospital Muenster. Opinions are mine.
Consultant Clinical Scientist - Med Micro
Infection Research Group (IRG) Hull.
Interested in CF, AMR, application of Nanopore & diagnostics
Supportive of all in training ❤️
FRCPath via HSST 🧫🧬🥼
A mum that can run as fast as small children walk
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
Professor; Dalhousie University. Pharmacy, Psychiatry, Nursing.
Médecin de famille, clinicienne enseignante semi-retraitée. Maman et nouvelle grand-maman. Amateure de lecture, de crochet et de marche.
medical education. general internal medicine. social justice. anti-oppression co-conspirator. mom.
Assistant Professor in the UC Berkeley Department of Molecular and Cell Biology, mtDNA obsessed, mother to the Lord of Chaos, she/her, personal account, views do not reflect those of my employer.
https://www.samlewis-phd.com/
Biomedical science professional with global lab experience in molecular biology, cancer biology, and neuroscience. Seeking PhD or research roles in basic or translational biomedical science.
Dad, Biochemist @GenomicsUnitAlumni @OxfordAlumni #Biophysics #DNA Repair and Replication #Ubiquitin #BLM #CryoEM #Equalityinscience All views are my own
We study secreted peptides and regulation of energy balance 🧠
PI: Katrin J. Svensson Associate Professor at Stanford Pathology and Metabolic Core Director at Stanford DRC
www.svenssonlabstanford.org
#obesity #peptides #secretome #neurometabolism #adipose
Biochemist and Developmental Biologist, Lab Head at Peter MacCallum Cancer Centre and University of Melbourne
Metabolism & Mitochondria
https://www.age.mpg.de/sprenger
Scientist interested in clinical mass spectrometry #metabolomics #proteomics #lipidomics #bone #metabolism #cancer #bileacids🇨🇴🇬🇧🇦🇹 📍Graz - AT
Assoc Prof in Biochemistry&Cell Biology at Boston University|Mitochondria-nuclear communication and genomic regulation of metabolism|🇮🇹🇺🇸Mom to 2boys and 2 dogs|Photography keeps me sane through it all
Professor of Exercise Physiology, mitochondria physiology, muscle physiology, metabolism, aging, and cardiometabolic disease. Views are my own.
Tea drinker and scientist. Neurons, NAD, stuff.
Research Lead - Neuroprotection and Repair Unit at Centre for Eye Research Australia
(petewilliamslab.com)
CEO - Mim Neurosciences (mimneurosciences.com)
Neuro/metabolism post doc @ CU Anschutz | Learning & Memory | 🐀🧠
mtDNA geek Mito-Nuclear Crosstalk. mtDNA variants. MitoPhenomics Lab
@cimusus. #mitoWomen and #WomeninScience. auroragomezdu@gmail.com
Biotherapeutic drug development, immunology and microbiome, agile homunculus
Research group studying metabolic and dietary control of mucosal immunology - led by Dr. Christoph Wilhelm at the University of Bonn
Researcher/Junior Professor Chair at IRCM (Montpellier, France). Passionate about Metabolism; working on Intra and Intertumoral Metabolic Heterogeneity in Leukemia and Glioma, in particular with IDHm.
Professor of Chemical Biology and Molecular Therapeutics at UC Berkeley
Board member of European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria, social services specialist, patient advocate. ♥️: 📖🚗✈️🎶📺
professional scientist; amateur artsy person; http://youtube.com/watch?v=92JExD… she/her
Clinical Medical Geneticist 🇨🇦, immunogenetics, #T1D polygenic risk. #raredisease clinical trials.
Post-doc at UCL interested in mitochondria, neurodegeneration and vasculature 🔬🧠🌈 | Working in the DuchenLab @uclbiosciences | and Raimondilab
Postdoc at ETH Zurich in the Kleele lab. I'm interested in mitochondria, microscopy and systems biology.
Smithie 2014, mitochondrial disease, spoonie, rare disease, genetic counselor, 🏳️🌈 ♿️ opinions are my own
PhD student in UTSW focusing on lipid metabolism and cancer metabolism
PhD in Pharmaceutical Sciences
Interested in protein misfolding disorders and inborn errors of metabolism
Climber, runner, and dog dad
Washington State and Gonzaga Alumni
Opinions are my own
Stay Curious
a former microbiologist in the realm of metabolism and female fertility 🪰
🏳️🌈 #QueerinSTEM
🔬 PhD Student- Carvalho-Santos Lab - GIMM🧑🔬 he/his/him
scientist, sports fan, mitochondriac
Postdoctoral Fellow @Stanford studying #ribosome mediated control of #lipid metabolism | @UCLA @nih @unicamp alumna | @Lindau Nobel Young Scientist 2023
PhD Student @ Giulio Superti-Furga lab, CeMM, Austria
Studying transporters in brain development using organoids
Associate Professor in Human Pathophysiology.
Research on metabolic vulnerabilities in cardio-oncology.
Faculty of Pharmacy – Toulouse University – I2MC.
Neonatologist and scientist using organoids to study neonatal brain development and injury.
https://www.BrainTherapeuticsLab.org/
Science, zebrafish, snails and developmental biology at Rice University. Biomphalaria glabrata and Danio rerio
Interests: #Sportscience, #Metabolism, #Mitochondria #SportsNutrition but I can't resist a well-written journal article of any kind. Getting wiser now so #agingscience. Also interested in “kines” of all kinds.
Lipid metabolism biochemist. Postdoc in the Vander Heiden Lab at MIT | he/him | ORCID: https://orcid.org/0000-0002-3882-6655
Postdoc at University of California at Berkeley. Excited about lipid metabolism and lipid quality control #massspec #lipidomics #ferroptosis
PhD candidate at Hernandez Lab @ Tufts | Studying human mitochondrial DNA replication 🧬| Esp/Eng |He/Him
#metabolomics and #lipidomics scientist - University of Geneva 🇨🇭
Advancing untargeted LC-MS-based approaches for toxicological applications
Metabolic Biochemist. Interested in problems that intersect analytical chemistry, metabolism, toxicology, and the environment.
I'm a neuroscientist with a special focus on nutrition, metabolism and mitochondria. Always happy to chat about brain aging (or any kind of aging), great books to read, travel, food and writing.
https://sciprofiles.com/user/publications/865800
Science writer, patient advocate, mom, deputy director at the National Urea Cycle Disorders Foundation @nucdf.bsky.social All opinions are my own.
She’s a disability caregiving, native gardening, theater loving, science learning, potty joking, begrudging non-profit founder with a heart of California Gold 🍊
Professional interest in nutrition in rare disease. Very amateur interest in music and sport !
Full Professor at Amsterdam UMC - AMC, NL. Translational metabolism | inborn errors of metabolism | aging | he/him
genetics PhD candidate 👩🏻💻🔬 Stanford, CA 📍🌲
metabolomics & multi-omics for rare disease 🧫🧬🥼
Deputy Editor at the Journal of Cell Biology
Views my own
Vive le Canada 🇨🇦
Non-for-profit publication of research in molecular, cell & organismal biology - as part of @embopress.org
Fast-fair-transparent / Open Access / Open Science
Mutter einer Tochter mit #MTP-Mangel,
Leben mit einer Fettsäurenoxidationsstörung
#FAOD #RareDisease
Gründungsmitglied vom Fett-SOS e.V.
www.fett-sos.com |
Ärztin #Allgemeinmedizin #Arbeitsmedizin
Physician-Scientist @WashU | Caring for patients with rare genetic metabolic diseases | Investigating mitochondrial pathomechanisms through systems and experimental biology
Cell biology lab at Newcastle University, UK, molecular mechanisms of nutrient sensing and autophagy, ageing and age-related disease 🇺🇦
We support patients and families affected by urea cycle disorders, a group of rare genetic diseases. Working to advance research, improve care, and raise awareness that saves lives https://nucdf.org
#UCDs #RareDisease #CheckAmmonia
Scientist working on inborn errors of metabolism. Associate Professor at the Icahn School of Medicine at Mount Sinai. New York.
CEO @GenomicsEngland, Honorary Consultant and Associate Professor in Clinical Genetics @GOSH. Still just about a runner
Rare disease program lead, Centre for Population Genomics.
🇦🇺🇳🇿
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast.
Postdoc at Oxford in neurogenetics 🧬 Previously PhD at Sanger/Cambridge, ACB at Broad. Harvard cognitive neuro 🧠
Lecturer in Systems Biology at the University of Sheffield. Interested in bioinformatics, RNA, splicing, big data, rare disease diagnostics and neuroscience. Also dogs.
Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica. Dad, husband, cyclist, gardener. Views own.
Associate Professor in Human Genetics and Genomic Medicine @HiLIFE_helsinki, @FIMM_UH, @UH_Neuro and Faculty of Medicine. Stem cells, single cells, genomics, and neurodevelopment.
Geneticist, researcher and educator
Genomic medicine researcher; chief genomics officer at MGH; clinical lab director at @broadinstitute
Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
Head, Clinical Genomics Lab | Director, Genomics & Inherited Disease Program, Garvan Institute, Sydney | Cardiac Genetic Counsellor | Feminist | Willow’s human | Swiftie 🫶🏻 #cardiogen #genechat #cardiosky
Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Opinions are my own.
@cgonzagaj everywhere 🐦🦣☁️🧵
Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
Asst. Prof, CU Biomedical Informatics.
#RareDisease #Genomics #STRs #bioinformatics #WomenInSTEM. Parent. Aussie. she/her
Views my own.
https://dashnowlab.org/
Img by familydestinationsguide (CC-BY)
Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
