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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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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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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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  • 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.
  • Scientists develop method to reveal the cell types most affected by genetic variation July 3, 2020
    Scientists at Johns Hopkins Medicine have found types of cells in the brain that are most susceptible to inherited genetic variants linked to schizophrenia. As a result, their work reveals a shortlist of the variants that most likely impact disease risk.
  • The protein that stands between us and autoimmunity July 2, 2020
    The immune system is supposed to protect from external microbial invaders, but sometimes it turns its efforts inward, potentially resulting in autoimmune diseases. In a new study, researchers from Osaka University have discovered how reversible modifications to DNA by certain proteins protect from autoimmune diseases, and conversely, how the absence of these proteins paves the […]
  • Concern following gene therapy adverse events July 2, 2020
    The Editor-in-Chief of Human Gene Therapy, the first journal devoted to the field of gene therapy, and one of the world's leading experts on gene therapy have co-authored a new editorial, Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy, in response to the news of two deaths in a now-halted […]
  • How a mutation on the novel coronavirus has come to dominate the globe July 2, 2020
    Flashback to mid-March: the novel coronavirus had reached San Diego, California. Few people could get tested, and even less was known about how the virus mutated as it spread from person to person.
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