Tag: Rare disease
POPDx: A Machine Learning Model to Predict Diseases of Biobank Participants with Small Datasets
Biobanks – databases with genetic and health information – offer researchers the ability to explore illnesses and study the contributions of genetics and environment to disease trajectory. These investigations have enabled us to draw conclusions about factors ranging from...
Genetic and Health Data Analyses of Finnish Biobank Participants Describe Hundreds of Novel Genetic...
Since initiation in 2017, the FinnGen study has developed into one of the world’s leading biobank-based genomic research projects. Currently FinnGen is completing the construction of a resource that integrates genomic information from 500,000 Finns with more than half...
Global Biobanks Collaboration Identified Novel Gene Variants for a Rare Severe Lung Disease
The study, led by the University of Helsinki, identified seven previously novel genetic risk factors for idiopathic pulmonary fibrosis. Only one of these would have been identified if the study had utilized data from European biobanks only. Global collaboration enabled...
UK Biobank Released Final Data from the World’s Largest Whole Exome Sequencing Project
UK Biobank has added the final tranche of exome sequencing data to its research database. This represents the completion of cohort-wide exome sequencing for over 470,000 participants within the UK Biobank resource. These de-identified data can now be accessed...
A New Severity Score For Fabry Disease
Fabry disease is caused by loss of function mutations in the X-linked GLA gene, which encodes the enzyme alpha-galactosidase (α-GAL). The main symptoms include localized and full body pain (nervous system), which increases over time, kidney disease, heart disease,...
BC Platforms And Blueprint Genetics Partner To Enable Precision Medicine In Rare Diseases
BC Platforms, a world leader in genomic data management and
analytics, has formed a collaboration with Blueprint Genetics, a leader in the
field of clinical genetic testing, to develop new data driven services for
hospitals and the life sciences industry. BC Platforms, founded...
CureDuchenne Launches Duchenne Muscular Dystrophy Biobank
CureDuchenne, a global leader in research, patient care, and
innovation in improving and extending the lives of those living with Duchenne
muscular dystrophy (Duchenne), has initiated the development of a biobank for
Duchenne in partnership with University of California, Irvine (UCI) and...
Meeting – C-Path and NORD Launch The Rare Disease Cures Accelerator-Data and Analytics Platform
The Critical Path Institute (C-Path) and the National Organization for Rare Disorders® (NORD) will host a meeting on Tuesday, September 17 in Bethesda, Maryland, to formally launch development of a new rare disease data and analytics platform. Funded by...
The Dalglish Family 22q Clinic And Biobank
The Dalglish Family 22q Clinic is the world's first multidisciplinary clinic devoted to adults with 22q11.2 deletion syndrome (22q11.2DS) and their families, located at Toronto General Hospital, Canada. The founding of the clinic was made possible thanks to a...
The PURA Syndrome Biobank – An International Resource
The PURA gene is located at chromosome 5, band q31 . It encodes the Pur alpha (PurA) protein which is a sequence-specific single-stranded-DNA-binding protein that is known to be particularly important for brain development. For example, lack of PurA...
