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Genetics

152 posts
  • This content is machine translated Disease-modifying therapies for ATTR-CM

TTR stabilizers, gene silencing and gene scissors: where do we stand?

Advances in the understanding of the pathophysiology of transthyretin amyloid cardiomyopathy (ATTR-CM) have revolutionized the therapeutic landscape in recent years. TTR stabilizers such as tafamidis and acoramidis can reduce TTR...…
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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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  • 7 min
  • This content is machine translated Case study

8-year-old girl with Pätau syndrome aka trisomy 13

The median survival time for live-born children with complete trisomy 13 without medical intervention is 7-10 days. Over 90% of affected newborns die in the first year of life. Risk...…
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  • 12 min
  • This content is machine translated Prevention and early detection: breast and ovarian cancer

Screening strategies, risk genetics and guideline recommendations

Breast cancer is the most common cancer in women worldwide – and also the one with the greatest potential for reducing mortality through structured screening. A German long-term study presented...…
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  • 5 min
  • This content is machine translated Case study

Autosomal recessive polycystic kidney disease: atypical phenotype

In a 5-year-old boy with renal ultrasound findings typical of autosomal recessive polycystic kidney disease (ARPKD), numerous large liver cysts were found – atypical for this disease. Genetic analyses revealed...…
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  • 33 min
  • This content is machine translated CRC, AML and melanoma in focus

Molecular mechanisms of tumor plasticity

Tumor plasticity, epigenetic reprogramming and the dynamic tumor microenvironment shape the biology of CRC, AML and melanoma and influence their therapeutic vulnerability. Modern therapeutic approaches combine molecular profiles, TME signatures...…
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  • 5 min
  • This content is machine translated Friedreich's ataxia

Interim analyses of the PROFA study show “Unmet needs”

The PROFA study focuses, among other things, on patient-reported psychosocial effects of Friedreich’s ataxia (FRDA) at different stages of the disease. The study comprises a cohort of FRDA patients in...…
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  • 5 min
  • This content is machine translated Ataxias

Friedreich’s ataxia: when the energy metabolism attacks the nervous system

Energy deficiency instead of pure oxidative stress: New data show that in Friedreich’s ataxia, disturbances in fatty acid and ketone body metabolism in particular contribute to selective neurodegeneration. The article...…
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  • 11 min
  • This content is machine translated From statins to metformin

Preventive pharmacology and longevity

In medicine, “longevity” is now less anti-ageing marketing than a very specific question of precision prevention: which pharmacological interventions prevent (or delay) cardiometabolic, renal, oncological and functional endpoints – and...…
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  • 6 min
  • This content is machine translated What biomarkers reveal about "biological youth" - and what not (yet)

Epigenetic ageing

In recent years, epigenetic clocks based on DNA methylation have evolved from research tools to widely used biomarkers of biological ageing. They correlate not only with chronological age, but also...…
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  • 7 min
  • This content is machine translated Chronic inflammation as a driver of ageing

Immunosenescence and inflammaging

Immunosenescence and inflammaging are now regarded as central biological mechanisms of ageing. The age-related altered immune system is both weakened and chronically activated – with consequences for susceptibility to infection,...…
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