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Genetics

120 posts
  • This content is machine translated Hemophilia A and B

Gene therapies show promising results

The goals of hemophilia therapy are becoming increasingly ambitious. The aim is now to normalize coagulation as far as possible. For adult patients, gene therapy is now one of many…
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  • 4 min
  • This content is machine translated Neuropediatrics

Effectively helping seriously ill children with new procedures

Caring for young patients regularly presents doctors with special challenges. In addition to the specific manifestations of age-independent neurological diseases in children, the focus is also on malformations and hereditary…
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  • 15 min
  • This content is machine translated T helper 1 cells

Differentiation and activation of Th1 cells – a multi-omics approach

T cells are an important part of our immune system. T helper (Th) cells support and coordinate central functions of the adaptive immune response and thus contribute significantly to the…
CME-Test
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  • 4 min
  • This content is machine translated Darier's disease

Innovative analysis method provides new insights into the skin microbiome

Links between dermal dysbiosis and skin diseases have been the subject of intensive research for several years. A research team involving the Technical University of Munich recently succeeded in using…
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  • 4 min
  • This content is machine translated Case study

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE), also known as Grönblad-Strandberg syndrome, is a rare hereditary disease that primarily affects the skin, eyes and arterial vascular system. Early diagnosis is crucial for the timely…
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  • 15 min
  • This content is machine translated T helper 1 cells

Differentiation and activation of Th1 cells – a multi-omics approach

T cells are an important part of our immune system. T helper (Th) cells support and coordinate central functions of the adaptive immune response and thus contribute significantly to the…
CME-Test
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  • 5 min
  • This content is machine translated Rare Disease Day 2024

“Think of zebras when you hear hooves clattering”

This quote goes back to the US-American physician Th. E. Woodward and is considered a metaphor for the diagnosis of rare diseases. International Rare Disease Day traditionally takes place on…
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  • 14 min
  • This content is machine translated Research

Protein 2, which contains the LEM domain, is essential for heart development

The integrity of the nuclear envelope is essential for the compartmentalization of the nucleus and the cytoplasm. Importantly, mutations in genes coding for the nuclear envelope and related proteins are…
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  • 3 min
  • This content is machine translated Rare diseases

Turcot syndrome

This genetic disease is characterized by an increased incidence of colorectal adenomas and brain tumours and was first described in 1959 by the Canadian surgeon Jacques Turcot. The tumors are…
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  • 20 min
  • This content is machine translated Lipoprotein(a)

Current and future treatment options

Twenty percent of the population have elevated Lp(a) concentrations, which are associated with an increased risk of cardiovascular disease. There is currently no FDA or EMA approved pharmacologic therapy to…
CME-Test
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  • 5 min
  • This content is machine translated Rare diseases

Tyrosinemia type I

For the prognosis of this autosomal recessive inherited disease, a diagnosis made in the neonatal period and the subsequent start of treatment are crucial – particularly with regard to the…

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