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Study looks at genetic background of healthy people who develop severe Covid-19 illness

June 13, 2020 – To help disentangle the secrets of Covid-19 disease, researchers are sequencing the DNA of young grown-ups and children who suffer from extreme Covid-19 disease ailments in spite of having no hidden clinical issues. The scientists are searching for hereditary genetic risk factors that could put certain people at high danger of getting seriously sick from the novel coronavirus,

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Diagnoses for children with rare genetic diseases by 3-D facial scans

June 07, 2020 – Most children with rare genetic diseases spend years undergoing medical tests and waiting for a diagnosis—a long, exhausting process that takes its toll on children and their families. Almost half of these children never get a definitive diagnosis.

In a new and exciting development,

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Host factors may influence Covid-19 severity more than viral genetic variation

May 22, 2020 – Host factors (i.e., disease phenotypes and/or predispositions) instead of viral genetic variation seem to impact more on sickness severity among Covid-19 patients, as indicated by an investigation from China. Scientists in Shanghai analyzed clinical, atomic, and immunological information from in excess of 300 individuals with affirmed Covid-19.

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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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Besides the now approved remdesivir: Emerging options to treat Covid-19

May 03, 2020 –  The world is desperate in the search for a treatment or better yet a vaccine in the Covid-19 pandemic. Slowly, there are some options emerging at least for the treatment of seriously ill Covid-19 patients. First of all,  the American Food and Drug Administration just issued an emergency use authorization (EUA) for the investigational antiviral drug remdesivir for the treatment of suspected or laboratory-confirmed COVID-19 in adults and children hospitalized with severe disease.

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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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First therapy for children with debilitating NF-1 approved in the USA

April 12, 2020 – The human genetic disease neurofibromatosis type 1 (NF-1) is a complex multi-system disorder caused by the mutation of a gene  (NF1 gene) on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types.

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Covid-19: Be careful with chloroquine and hydroxychloroquine

March 25, 2020 – The Covid-19 pandemic keeps the word abreast. Drastic measures have been and are being taken worldwide by governments, hospitals, healthcare  care providers, and retiring homes in attempts to halt the spreading of Covid-19. Recently, there have been publications by Chinese clinical researchers in the Journal Cell Research and the International Journal of Antimicrob Agents indicating that both,

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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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  • Researchers develop new approach to study the genetics of human disease July 7, 2020
    Many heritable immune diseases such as rheumatoid arthritis and blood-cell related traits derive from critical proteins not being made or not functioning correctly. But exactly how a person's genes, the regulation of these genes and how the resulting proteins interact to cause disease is not widely understood.
  • Common inherited genetic variant identified as frequent cause of deafness in adults July 6, 2020
    A common inherited genetic variant is a frequent cause of deafness in adults, meaning that many thousands of people are potentially at risk, reveals research published online in the Journal of Medical Genetics.
  • Rsearchers create an analytic tool that opens a new frontier of cancer discovery July 6, 2020
    Gene coding regions constitute 2% of the human genome. St. Jude Children's Research Hospital scientists have developed a computational tool to identify alterations that drive tumor formation in the remaining 98% of the genome. The method will aid discovery of oncogenes and advances in precision medicine for children and adults with cancer.
  • Discovery of new disease-susceptibility gene for steroid-sensitive nephrotic syndrome July 3, 2020
    An international research collaboration, including Professor Iijima Kazumoto et al. (of the Department of Pediatrics, Kobe University Graduate School of Medicine) has revealed that NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome in children. The NPHS1 gene encodes nephrin, a component protein for the renal glomerulus slit diaphragm, which prevents protein from being passed […]
  • How digital tools can advance quality and equity in genomic medicine July 3, 2020
    The pandemic has forced health care providers to find new ways to connect with patients through screens. For genetic specialists, who provide patients and families with genetic testing for conditions linked to DNA, connecting with patients is an important part of helping them make informed medical decisions.
  • Mental health benefits of parks dimmed by safety concerns July 7, 2020
    No matter how close parks are to home, perceptions of park-centered crime may keep New Yorkers from using them.
  • Measuring tape is a critical tool for following Zika virus-exposed children July 7, 2020
    A simple measuring tape could be the key to identifying which children could developneurological and developmental abnormalities from Zika virus exposure during gestation.This is according to an invited commentary published July 7 in JAMA Network Open andwritten by Sarah Mulkey, M.D., Ph.D., prenatal-neonatal neurologist in the Division ofPrenatal Pediatrics at Children's National Hospital.
  • Repurposing public health systems to decode COVID-19 July 7, 2020
    Research published in the journal Microbial Genomics describes how national surveillance systems can be linked with the UK Biobank. This pooled data could then be used to understand how genetics and other epidemiological factors impact risk of developing severe infection.
  • Microplastic pollution harms lobster larvae, study finds July 7, 2020
    Microplastic fiber pollution in the ocean impacts larval lobsters at each stage of their development, according to new research. A study published in the Marine Pollution Bulletin reports that the fibers affect the animals' feeding and respiration, and they could even prevent some larvae from reaching adulthood.
  • Why it's no last orders for the Tequila bat July 6, 2020
    Scientists studying the 'near threatened' tequila bat, best known for its role in pollinating the Blue Agave plant from which the drink of the same name is made from, have analysed its DNA to help inform conservationists on managing their populations. The findings are published in Global Ecology and Conservation.
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