The Rare Disease Data Center (RDDC) provides interfaces for the interactive visualization and exploration of biomedical data alongside several gene diagnosis tools based on the sophisticated AI and machine learning models. The RDDC is consistently developing new tools to meet the rapidly evolving demand...
为解决这一难题,广州罕见病基因治疗联盟的成员单位联手共同打造了罕见病数据中心(Rare Disease Data Center,简称“RDDC”),这是国内首个对外公开、永久免费的罕见病研究数据中心(网址:链接)。欢迎复制链接体验,开启您的罕见病研究AI之旅。马上报名,相约云端!
Watch as Laura and Dave share their family’s rare disease journey, navigating home life with three young boys with an undiagnosed condition. The family is enrolled in a rare disease research study at Radboud University Medical Center (Radboudmc, Radboud, Netherlands) and hopes to gain further ...
The National Organization for Rare Disorders (NORD) Rare Disease Database set the standard for thorough, detailed monographs on rare diseases starting in the 1990s. The NORD Database is complemented by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center online and ...
With the advent of whole exome (ES) and genome sequencing (GS) as tools for disease gene discovery, rare variant filtering, prioritization and data sharing have become essential components of the search for di... Authors: Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S. Rodrigues...
”As we approach Rare Disease Day 2025, I urge you to join me in raising awareness about Turner syndrome and other rare conditions. Let us work together to amplify the voices of those with rare diseases and ensure that they have access to the care and support they need to thrive.’ Read...
The United Nations recently made a call to address the challenges of an estimated 300 million persons worldwide living with a rare disease through the collection, analysis, and dissemination of disaggregated data. Epidemiologic Information (EI) regarding prevalence and incidence data of rare diseases ...
”As we approach Rare Disease Day 2025, I urge you to join me in raising awareness about Turner syndrome and other rare conditions. Let us work together to amplify the voices of those with rare diseases and ensure that they have access to the care and support they need to thrive.’ Read...
Monarch Initiative, a GA4GH driver project that is dedicated to improving rare disease diagnostics, which have been hampered by the lack of patient-level data sharing. She also leads the National Human Genome Research Institute (NHGRI) Center of Excellence in Genome Sciences's Phenomics First ...
Since its inception in 2011, FDNA has invested over 10 years in developing its AI-powered technology, establishing clinical integrity, and curating the world’s largest repository of rare disease facial image data. This has enabled the company to support thousands of patients, families, and health...