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Breast cancer: Multigene sequencing replaces BRCA tests

May 15, 2018 –An increasing number of women who are diagnosed with breast cancer are opting for multigene sequencing instead of the more limited testing for only BRCA1/ BRCA2 mutations, according to a new report.

The findings come from the ICanCAre study, 

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Cancer is not like cancer: Ethnic background matters

November 24, 2017 – New research indicates that one-size treatment for one form of blood cancer likely does not fit all, particularly when it comes to ethnic differences of patients.  Thus, African-American men are three times more likely to be diagnosed with multiple myeloma,

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  • 30-year study identifies need of disease-modifying therapies for maple syrup urine disease January 24, 2020
    A new study analyzes 30 years of patient data and details the clinical course of 184 individuals with genetically diverse forms of Maple Syrup Urine Disease (MSUD), which is among the most volatile and dangerous inherited metabolic disorders. Researchers collected data on survival, hospitalization rates, metabolic crises, liver transplantation, and cognitive outcome. This represents the […]
  • TP53 gene variant in people of African descent linked to iron overload, may improve malaria response January 24, 2020
    In a study by The Wistar Institute and collaborators, a rare, African-specific variant of the TP53 gene called P47S causes iron accumulation in macrophages and other cell types and is associated with poorer response to bacterial infections, along with markers of iron overload in African Americans. Macrophage iron accumulation disrupts their function, resulting in more […]
  • Scientists highlight potential of exposome research January 23, 2020
    Over the last two decades, the health sciences have been transformed by genomics, which has provided insights into genetic risk factors for human disease. While powerful, the genomics revolution has also revealed the limits of genetic determinants, which account for only a fraction of total disease risk. A new article in the journal Science argues […]
  • Researchers uncover mechanism for how common gene therapy vectors enter cells January 23, 2020
    Researchers led by a team at Massachusetts Eye and Ear have identified a novel cellular entry factor for adeno-associated virus vector (AAV) types—the most commonly used viral vectors for in vivo gene therapy. AAVs are vectors—or vehicles—that are created from a virus that is made harmless by molecular engineering, and have shown promise transporting genetic […]
  • Largest-ever study ties over 100 genes to autism January 23, 2020
    More than 100 genes appear to be involved in autism spectrum disorders (ASD), according to the largest genetic study of the condition to date.
  • The regulators active during iron deficiency January 24, 2020
    Iron deficiency is a critical situation for plants, which respond using specific genetic programmes. Biologists from Heinrich Heine University Düsseldorf (HHU) and Michigan State University (MSU) used artificial intelligence methods to examine how to predict regulatory genetic sequences. They have now published the findings from their joint research work in the journal Plant Physiology.
  • More than 40% of status epilepticus patients suffer adverse outcomes January 24, 2020
    A new study published in Seizure gives insight into the short-term outcome of patients treated for status epilepticus in Kuopio University Hospital in Finland. The researchers found a 9% risk of death and a 32% risk of functional loss at one month after status epilepticus. The patient's risk of death could be predicted relatively reliably […]
  • What goes up may actually be down January 24, 2020
    A new study in Frontiers in Neuroscience used virtual reality to determine how people plan their movements by 'seeing' gravity using visual cues in the landscape around them, rather than 'feeling it' through changes in weight and balance.
  • A new twist on quantum communication in fiber January 24, 2020
    New research done at the University of the Witwatersrand in Johannesburg, South Africa, and Huazhang University of Science and Technology in Wuhan, China, has exciting implications for secure data transfer across optical fiber networks.
  • Benefits of fetal surgery for spina bifida continue through school age January 24, 2020
    The benefits of fetal surgery to repair spina bifida, a procedure pioneered at Vanderbilt University Medical Center (VUMC) in 1997, continue through school age, a National Institutes of Health (NIH) study reports today in the journal Pediatrics.
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