A point mutation in CLCN6 has been identified as the genetic cause of a severe, lysosomal neurodegenerative disorder. Researchers from Germany, Italy and the United States detected the identical [...]
Heterozygous truncating variants of the SUFU negative regulator of hedgehog signaling (SUFU) gene cause congenital oculomotor apraxia (COMA), a rare eye movement disorder. Patients with this [...]
Developing new and specific therapeutic options for pancreatic cancer (PDAC) is the overall goal of a new Clinical Research Unit at the University Medical Center Göttingen, to which the German [...]
LMNB1 is a gene that plays an important role in maintaining nuclear envelope stability and in regulating gene expression and is thereby also involved in nervous system development, among other [...]
New insights into the importance of DDX11 for genomic integrity and cell vitality have been reported in a study published in Nature Communications. DDX11 is a DNA helicase and fulfils essential [...]
De novo variants of the MAPK1 gene have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies. This family of genetic disorders includes [...]
GP2 gene variants may be associated with an increased risk for pancreatic cancer. This is suggested by the results of a meta-analysis of three genome-wide association studies published in Nature [...]
Researchers at the Institute of Human Genetics Göttingen have uncovered the genetic cause of a previously undescribed disorder associated with a combination of several malformations and [...]
Mutations in the FBRSL1 gene cause a previously undescribed syndrome associated with malformations and intellectual disability. A study led by scientists of the Institute of Human Genetics at the [...]
Variants of the TET2 gene might be a risk factor for the development of neurodegenerative diseases. In their study published in The American Journal of Human Genetics, US researchers initially [...]
