Blog Archives

Ashkenazi Jewish Women: Little-known Gene Mutations May Boost Breast Cancer Risk

July 27, 2017 – Jewish women of Ashkenazi descent may be at risk for additional genetic mutations that increase their risk of breast cancer, according to a new study just published in JAMA Oncology. Researchers from University of Washington in Seattle found that around 4 percent of Ashkenazi Jewish women without well-known founder mutations in BRCA1 and BRCA2 genes have other mutations that may increase their risk for breast cancer.

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Genetic predisposition and sweating: Most Koreans don’t have to wear deodorants

 

February 08, 2017 – Genetic predisposition may go in both ways, the positive and the negative. Usually, when we talk about genetic predisposition, there is an immediate association with some unwanted reactions of individuals towards drugs (e.g., abacavir-induced hypersensitivity reaction in carriers of the HLA-B*5701 allele) or some inheritable diseases (e.g.,

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Adverse clinical outcome associated with mutations in colorectal cancers of African Americans

Colon Cancer in AASeptember 04, 2016 – Case Comprehensive Cancer Center researchers, a research collaboration which includes University Hospitals Seidman Cancer Center and Case Western Reserve University, who last year identified new gene mutations unique to colon cancers in African Americans, have found that tumors with these mutations are highly aggressive and more likely to recur and metastasize.

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The European Medicines Agency’s Pharmacovigilance Risk Assessment Committee (PRAC) has recently recommended restrictions on the use of codeine-containing medicines for cough and cold in children because of the risk of serious side effects

March 21, 2015 – The European Medicines Agency’s Pharmacovigilance Risk Assessment Committee (PRAChas recently recommended restrictions on the use of codeine-containing medicines for cough and cold in children because of the risk of serious side effects with these medicines,

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FDA Drug Safety Communication: Codeine use in certain children after tonsillectomy and/or adenoidectomy may lead to rare, but life-threatening adverse events or death

September 27, 2014 – A while ago (August 2012),  the American Food and Drug Administration (FDA) was assessing and reporting on the (possibly fatal) risks associated with the use of codeine containing medicines in children who are phenotypically members of the CYP2D6 Ultrametabolizer Patient Subgroup because oaf their CYP2D6 genetic background.

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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.
  • 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 […]
  • 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.
  • 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.
  • Brain-cell helpers powered by norepinephrine during fear-memory formation January 24, 2020
    A sustained state of vigilance will generate a different type of memory than a momentary startle, and these differences are linked to distinct signaling molecules in the brains of mice. Researchers at the RIKEN Center for Brain Science (CBS) have visualized these dynamics in the living mouse brain for the first time, observing two molecular […]
  • 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.
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