Consumer Health and Disability Engagement Consultant.
Exploring Mendelian neurological diseases with a focus on mitochondrial roles in neurodevelopment. Associate Professor of the Aging & Metabolism Research Program at the OMRF
A bit lefty. Love Reading fc
Physician-scientist, Adult genetics, Human genetics research, Baylor College of Medicine. Thoughts expressed = my own.
https://TheCRID.org
More data sharing, less data silos. CRID is a service that enables parents/patients create their own unique universal ID for clinical research.
Lindsay. Democratic nominee for VA House of Delegates district 69 (I had to resign from running sadly due to unexpected health emergency) Super focused on my local community ( Hampton Roads ) and rare disease advocacy.
RDI is the global alliance for persons living with a rare disease, across all countries and all rare conditions.
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.
Chromatin biochemistry and genomics in development and cancer. UW-Madison School of Medicine and Public Health
TheLewisLab.net
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
The Genetics Society was founded by William Bateson & Edith Rebecca Saunders in 1919 & is one of the oldest learned societies devoted to Genetics in the world.
We study how organisms grow, age & develop disease through basic research in epigenetics, genome stability & related fields ๐งฌ
www.imb.de / Imprint: https://www.imb.de/impressum-imprint
๐ #Mainz, Germany
Pediatric clinical geneticist and AI researcher at Childrenโs Hospital of Philadelphia and the University of Pennsylvania. My lab trains large language models to improve the care of children, particularly those with rare genetic diseases.
Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. http://rarechromo.org
Hola! We are the CRG, a research institute exploring the frontiers of biology in Barcelona. Som un centre CERCA. www.crg.eu
Epigenome Technologies, pioneering in epigenetic and single-cell analysis, offers advanced assay kits and optimization services.
๐งฌFounded in 1948, the American Society of Human Genetics (ASHG) is the primary professional membership organization for #humangenetics specialists worldwide.
www.ashg.org
We drive research to treatments for this rare disease through collaboration, education, and fundraising. www.kabukisyndromefoundation.org
RDND Lab at Kingโs 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