Gene of the Month – November: MRAP2

Variants of the MRAP2 gene have already been described as causing monogenic obesity. However, the precise functional consequences of these variants have remained unclear. Now a large study [...]

Gene of the Month – October: RPL13

Variants of the RPL13 gene have for the first time been identified as genetic cause of a rare skeletal disorder. In the American Journal of Human Genetics, the authors describe a role of the [...]

Brittle bone disease: Novel gene provides clue to potential therapeutic approach in the future

Extremely fragile bones are the reason why mainly children, but also adults with brittle bone disease will frequently break their bones, often even without any apparent injury. The genetic [...]

Gene of the Month – September: MESD

A recent study reports on the MESD gene as a novel disease gene associated with the condition of brittle bone disease, or osteogenesis imperfecta (OI). In this study, an international group of [...]

NIG: Modern integrated genomics is a key element to innovative research and personalized medicine

Genomics, epigenomics and transcriptomics are crucial elements in modern biomedical research towards personalized medicine. Next-generation sequencing, the technology that allows to [...]

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Gene of the Month – August: RABL3

A recently published study associates  a rare mutation in the RABL3 gene with the development of pancreatic cancer: Researchers from the U.S. and Australia report in Nature Genetics on an [...]

NIG – NGS Integrative Genomics Core Unit

Gene of the Month – July: ARAF

A mutation in ARAF was discovered by US researchers as the genetic cause of a very rare and complex lymphatic anomaly and then served as the basis for developing a therapeutic approach. In Nature [...]

Gene of the Month – June: RFC1

Replication factor C subunit 1, the protein encoded by the RFC1 gene, is the largest of five subunits making up the RFC protein complex. This complex loads the ring-shaped PCNA protein onto the [...]