Robuta

https://rddc.tsinghua-gd.org/
RDDC, Rare Disease Data Center, is dedicated to offering a comprehensive platform that covers genetics, diseases, and animal models, with the ultimate goal of...
rare disease databasegenetic diseasesrddcfacilitatingresearch
https://www.prnewswire.com/news-releases/foxg1-research-foundation-to-pioneer-a-machine-learning-approach-to-accelerate-rare-disease-research-with-support-from-the-chan-zuckerberg-initiative-301178435.html
/PRNewswire/ -- The parent-led FOXG1 Research Foundation (FRF) announced today a nearly $500k grant from the Chan Zuckerberg Initiative (CZI) to...
research foundationmachine learningpioneerapproach
https://sheffield.ac.uk/ihuman/blog/irdirc2023
rare disease researchworkingtowardsstandardisationcollaboration
https://www.jmir.org/2022/12/e42084/authors
Background: Social media provides a potential avenue for genetic counselors to address gaps in access to reliable genetics information for rare disease...
internet researchrare diseasejournalmedicalperspectives
https://www.businesswire.com/news/home/20260105317041/en/GeneDx-Leads-Rare-Disease-Genomics-with-Unmatched-Research-and-Clinical-Impact-in-2025
GeneDx announced a record-setting year for its research programs, reinforcing its position as the global leader in rare disease genomics.
rare disease genomicsgenedxleadsunmatchedresearch
https://www.23andme.com/rare-disease-research-study/essential-thrombocythemia/?utm_source=google&utm_medium=search_generic&utm_campaign=US_ET_sales_google-search&utm_term=thrombocythemia
Help 23andMe researchers learn more about the genetics of people living with Essential Thrombocythemia that could ultimately lead to the development of better...
rare disease researchstudy
https://www.prlog.org/13054209-diving-deeper-in-rare-disease-research-protheragen-unveils-diagnostic-development-services.html
Diving Deeper in Rare Disease Research: Protheragen Unveils Diagnostic Development Services. Protheragen, a dedicated preclinical research service provider...
rare disease researchdiving deeperdiagnostic developmentunveils
https://www.protheragen.us/
We provide therapeutic development services for rare diseases to scientists and researchers in pharmaceutical companies.
rare disease researchtherapeutics developmentservices
https://www.uth.edu/news/story/clinical-drug-trial-research-brings-hope-for-children-who-have-rare-tumor-disease
drug trialclinicalresearchbringshope
https://findforrare.com/
Supporting research progress in Fabry disease, Alpha-mannosidosis, and Cystinosis is our way to make a rare difference. Independently assessed, expert-led
disease researchfindrareadvancingcare
https://www.sickkids.ca/en/news/archive/2019/research-shows-potential-drug-therapy-reduces-effects-ttc7a-deficiency/
A drug typically used to treat rheumatic conditions could have therapeutic benefit for patients with a rare inflammatory bowel disease gene mutation.
new researchdrug therapyshowspotentialreduces
https://www.ucl.ac.uk/news/2019/oct/ucl-and-gosh-welcome-first-patients-zayed-centre-research-rare-disease-children
UCL and Great Ormond Street Hospital (GOSH) today celebrated the opening of The Zayed Centre for Research into Rare Disease in Children, by welcoming the first...
zayed centreuclgoshwelcomefirst
https://warwick.ac.uk/fac/sci/med/research/ctu/news/news/innovative_new_project/
new projectrare diseaseinnovativelooksimprove
https://www.stjude.org/research/progress/2024/the-collaborative-journey-of-rare-disease-clinical-research.html
Learn how St. Jude cares for children with rare catastrophic diseases, overcoming barriers to clinical trial recruitment by partnering with families.
rare diseaseclinical researchst judecollaborativejourney
https://speakerdeck.com/williamrowell/comprehensive-detection-of-variants-in-rare-disease-research-with-pacbio-hifi-reads
Presented at European Human Genetics Conference 2021 on August 29th, 2021
rare disease researchcomprehensivedetectionvariantspacbio
https://www.umassmed.edu/rare-disease-research/blog/?fauthor=Peter_E._Newburger--comma--_MD
rare disease researchspotlightingblog