Blog Archives

Abdominal aortic aneurysm: Genetic scoring can identify more men at risk

May 07, 2020 – Abdominal aortic aneurysm (AAA) is a localized enlargement of the abdominal aorta such that the diameter is greater than 3 cm or more than 50% larger than normal. AAAs usually cause no symptoms, except during rupture. 

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Could DNA testing help the most seriously affected Covid-19 patients?

April 28, 2020 – Coronavirus disease 2019 (Covid-19) is an infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The disease was first identified in December 2019 in Wuhan, the capital of China’s Hubei province,

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Klotho’s role in some patients with Alzheimer’s disease revealed?

April 24, 2020 – The klotho gene is named after the fanciful Greek goddess of destiny Clotho who turns the string of life known to be related with longer life and improved cognizance. In modern biology, allelic variants of the klotho gene in fact have been associated with long life span.

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Inherited mutation in ELP1 predisposes children to medulloblastoma

April 03, 2020 – Medulloblastoma is the most common malignant pediatric brain tumor. Medulloblastomas are invasive, rapidly growing tumors that, unlike most brain tumors, spread through the cerebrospinal fluid and frequently metastasize to different locations along the surface of the brain and spinal cord. 

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Large genetic map of psychiatric disorders completed

March 15, 2020 –  An international study published in the journal Cell has described 109 genetic variants associated with eight psychiatric disorders such as autism, ADHD, schizophrenia, bipolar disorder, depression, obsessive-compulsive disorder and Tourette syndrome in a total of about 230,000 patients worldwide.  

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Are Asians at higher genetic risk of serious adverse events to common medications?

March 10, 2020 – A widespread assumption is, the people of Asian descent are more prone to serious, sometimes deadly adverse drug reactions, even when taking rather common medications prescribed for gout through to depression. In the ages of genetics and precision medicine, the question then comes up if Asian people could be at such heightened risk because of underlying particular genetic factors.

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HSD3B1 Genotype Predicts Prostate Cancer Outcomes

February 28, 2020 – A very recent report elucidates the possible prospective power of the knowledge about the genetic background of patients when concerned with certain clinical endpoints (disease states) and associated genes.

The researchers in the present study analyzed outcomes in white men enrolled in the E3805 CHAARTED clinical trial according to HSD3B1 genotype,

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Genetic variants of the NUDT15 gene drive toxicity in leukemia therapy

February 27, 2020 – Thiopurines are important antimetabolite drugs, which make up a critical part of curative treatment for ALL. Genetic variations can directly influence drug and effectiveness of thiopurines. Researchers at St. Jude and elsewhere previously identified NUDT15 variants as a major genetic cause of toxicity during thiopurine therapy,

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Heart disease prediction by traditional risk factors as good as with an exhaustive genetic test

February 20, 2020 – Traditional cardiovascular risk factors often assessed in an annual physical, such as blood pressure, cholesterol levels, diabetes, and smoking status, may at least be as valuable in predicting who will develop coronary heart disease (CHD) as a sophisticated genetic test that surveys millions of different points in DNA,

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Soccer Headers Might Be More Risky for APOE4 Genotype Carriers

February 01, 2020 – Soccer headers might be more risky for APOE4 genotype carriers – this is the headline of a very recent Reuters Health article appearing in Medscape. Thus, soccer players with apolipoprotein E4 (APOE4) genotype may want to limit how many headers they do,

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  • Targeted therapy pralsetinib achieves high response rates in advanced cancers with RET gene fusions May 29, 2020
    The targeted therapy pralsetinib appears to have high response rates and durable activity in patients with a broad variety of tumors harboring RET gene fusions, according to results from the international Phase I/II ARROW trial, led by researchers at The University of Texas MD Anderson Cancer Center.
  • Genetic data may up diagnostic efficiency for rheumatic disease May 29, 2020
    (HealthDay)—Converting genotype information into an interpretable probability value for five different inflammatory arthritis-causing diseases could potentially improve the diagnostic efficiency of rheumatic disease, according to a study published in the May 27 issue of Science Translational Medicine.
  • New streamlined assay can improve prenatal detection of alpha-thalassemia May 29, 2020
    In a report in The Journal of Molecular Diagnostics, researchers describe a rapid, accurate novel assay for nondeletional alpha-thalassemia genotyping based on one-step nested asymmetric PCR melting curve analysis, which may enhance prenatal diagnosis, newborn screening, and large-scale population screening.
  • Researchers identify mechanisms that make skin a protective barrier May 28, 2020
    A Mount Sinai research team has identified one of the mechanisms that establish the skin as a protective barrier, a breakthrough that is critical to understanding and treating common skin conditions including eczema and psoriasis, according to a study published Thursday, May 28, in the scientific journal Genes & Development.
  • Using electrical stimulus to regulate genes May 28, 2020
    This is how it works. A device containing insulin-producing cells and an electronic control unit is implanted in the body of a diabetic. As soon as the patient eats something and their blood sugar rises, they can use an app on their smartphone to trigger an electrical signal, or they can preconfigure the app do […]
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