Tag: Rare disease
University of Liverpool Launches Global Aortic Biobank to Advance Aortic Disease Research
Centralised Global Resource: AortaBank will collect and distribute high-quality aortic tissue and blood samples to researchers worldwide.
Boosting Rare Disease Research: The initiative...
Lithuania Launches First National Biobank for Population and Rare Disease Research
Highlights
Historic First: The Lithuanian Population and Rare Diseases Biobank officially opens at Vilnius University’s Faculty of Medicine — the first of its kind...
Vall d’Hebron University Hospital’s Biobank Launches a Biological Sample Search Engine
Key Points:
Vall d'Hebron University Hospital's Biobank unveils the first human sample search engine for research with over 65,000 cases classified by disease type.
...
Criobanca Marche Biobank Launched to Develop Personalized Medicine Against Rare Diseases
The Marche Biobank project co-financed by the Marche Region and by a partnership of Marche Universities and companies successfully celebrated one of the most...
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...
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...
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...
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...
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...
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...



















