Latest Scientific News
Personalizing Therapeutic Decisions in Fabry Disease
More than a single treatment option is available for some genetic disorders. For Fabry…
A Novel Neurodevelopmental Disorder
Brain development is a highly complex process involving numerous proteins. The latest…
Frequent Genetic Cause of Seizures Identified
The etiology of seizures is highly heterogeneous and involves an unknown number of…
Generation of iPSCs for Rare Diseases
Induced pluripotent stem cells (iPSCs) represent excellent in vitro models to study rare…
Moving Towards New Therapies for Fabry Disease
Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme…
Understanding DNA Alterations in Colorectal Cancer
Germline and somatic DNA alterations may cause inherited diseases and/or cancer. While…
A Novel Genetic Syndrome
Standard genome-scale diagnostics fail to identify a pathogenic variant in up to 50% of…
Understanding Neurodegeneration in Niemann-Pick Disease
Niemann-Pick (NP) disease is a lysosomal storage disorder that involves the degeneration…
Characterization of an Ultra-Rare Disorder
Novel gene-disease associations are continuously being proposed, but the underlying…
An Unorthodox Disease Mechanism
Essential proteins are defined as those that are necessary for living. In theory,…