Common genetic cause of unclear disorder in three children uncovered

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 [...]

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 [...]

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 [...]

Hallermann-Streiff syndrome: The molecular link of the well-known syndrome is still missing

Hallermann-Streiff syndrome is a rare congenital syndrome that is well-known but whose genetic cause has so far not been unraveled – although researchers have intensively investigated the [...]

Rapid aging: Biallelic POLR3A mutations cause neonatal progeroid syndrome

An international collaboration of scientists including researchers of the Institute of Human Genetics Göttingen have determined specific mutations in POLR3A as the genetic cause of [...]

New genetic causes of Bloom syndrome identified

Mutations causing Bloom syndrome have been identified in two new genes by an international collaboration of scientists including also researchers of the Institute of Human Genetics Göttingen. [...]

An evolutionarily conserved ribosome-rescue pathway maintains epidermal homeostasis

During translation, a number of obstacles have the potential to arrest the ribosomal movement. In yeast, several studies revealed that the evolutionarily conserved Pelota (Pelo) recognizes [...]

Progeroid malformation syndrome caused by SLC25A24 mutations

An international group of researchers have revealed de novo mutations in SLC25A24 as the genetic cause of Gorlin-Chaudry-Moss syndrome (GCMS) in five affected children. This congenital disease [...]

CDK10 mutations cause new syndrome of growth retardation, facial dysmorphism, developmental delay and spine malformations

Autosomal recessive mutations of the CDK10 gene have been revealed as causing a newly described syndrome characterized by a combination of severe growth retardation, dysmorphic facial features, [...]

Novel potential strategy to enhance the efficacy of colorectal carcinoma treatment uncovered

Researchers led by Dr Silke Kaulfuß at the Institute of Human Genetics Göttingen have uncovered a new approach that may increase the efficacy of the standard therapy to treat colorectal cancer [...]

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