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Genetics

119 posts
  • This content is machine translated Medical oncology

A multidisciplinary approach to an innovative future

The ESMO Congress is a globally influential oncology platform for clinicians, researchers, patient advocates and healthcare professionals from around the world. Once again this year, the latest ground-breaking data was…
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  • 5 min
  • This content is machine translated Rare diseases

Donnai-Barrow syndrome

This very rare syndrome is caused by mutations in the LRP2 gene, which codes for megalin, and is inherited in an autosomal recessive manner. It is characterized by craniofacial features…
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  • 6 min
  • This content is machine translated Birt-Hogg-Dubé syndrome

Fibrofolliculomas as indicator lesions

The vast majority of patients affected by this rare hereditary tumor syndrome develop numerous fibrofolliculomas in middle age, particularly on the face and upper body. Genetic testing is required to…
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  • 6 min
  • This content is machine translated Rare diseases

Crigler-Najjar syndrome

The syndrome, first described by the two doctors Dr. John Crigler and Dr. Victor Najjar in 1952, is characterized by a congenital disorder in the metabolism of bilirubin. Existing treatment…
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  • 4 min
  • This content is machine translated Heart damage

Myocardial regeneration: feasible or wishful thinking?

Regeneration of the heart is considered the “holy grail” of cardiology. Despite therapeutic advances with cholesterol-lowering drugs, beta-blockers, antihypertensives and other agents, heart failure caused by the loss or dysfunction…
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  • 7 min
  • This content is machine translated Hematology

A closer look at hemato-oncological entities

The latest advances in the field of hematology were the focus of this year’s annual meeting of the European Hematology Association in Madrid. Experts discussed research data on various diseases…
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  • 15 min
  • This content is machine translated Amyotrophic lateral sclerosis

Update on diagnostics and therapy

In addition to standard care for all forms of ALS, there has been significant progress, particularly for monogenetic forms of ALS, thanks to the development of specific gene-based treatment methods,…
CME-Test
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  • 4 min
  • This content is machine translated Dermatomyositis

Impaired mitochondrial function as a trigger for SI joint upregulation?

The autoimmune disease dermatomyositis is one of the collagenoses andis characterized by muscular symptoms and characteristic skin florescences. There are indications that the disease is controlled by type I interferon.…
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  • 5 min
  • This content is machine translated Hypertrophic cardiomyopathy

Progress in gene therapy and future prospects

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy worldwide, affecting around 1 in 500 people. Current therapeutic interventions include lifestyle optimization, medications, septal reduction therapies and, rarely, heart transplantation.…
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  • 5 min
  • This content is machine translated Rare diseases

Muckle-Wells syndrome

This rare autoinflammatory syndrome, caused by a genetic mutation, was first described in 1962 by the English doctors Thomas James Muckle and Michael Vernon Wells. Muckle-Wells syndrome is one of…
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  • 6 min
  • 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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