Scientific Publications
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One Gene – Two Mutational Mechanisms
For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with […]
A Variant-Specific Mutational Effect
A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be […]
Understanding Parkinson’s Disease on a Global Scale
Current insights into Parkinson’s disease (PD) are largely based on studies in Europe and North America. A recent effort towards establishing a multi-ethnic understanding of PD resulted in intriguing […]
Unlocking the Genetics of Seizures
Seizures are frequently rooted in a genetic factor, but many of the corresponding disorders are ultra-rare. A new study reports ADARB1 mutations in two families in which patients suffer from a severe […]
A Novel Disorder of Nerve Cell Communication
Proper development and function of nerve cells relies on communication by so-called neurotransmitters. Mutations in the GAD1 gene, which is involved in neurotransmitter synthesis, have now been found […]
Epidemiology of a Rare Protein Aggregation Disorder
Some genetic disorders are caused by an accumulation of the mutated protein, with hereditary ATTR amyloidosis (hATTR) being a prime example. Therapeutic strategies that target these toxic aggregates […]
Revealing Genetic Causes of Parkinson’s Disease
Certain variants in LRRK2 have been associated with Parkinson’s disease. While much is known about this association for some variants, knowledge is still sparse for others. In the frame of a […]
Testing of Novel Treatment Options for Niemann-Pick Disease
The search for causative treatments continues to be a leading challenge in rare disease research. Using varying models, researchers recently investigated the potential effects of a novel candidate […]
A New Phenotype for a Known Neurological Disorder
Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also […]