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The phenotype broker: Blockchain and patient phenotype

July 26, 2019 – “Blockchains for secure digitized medicine”. This is the title of a very interesting and important article in the Journal of Personalised Medine (JPM) as of May 28, 2019.

Blockchain as an emerging technology (particularly around the hype on Bitcoins) has been gaining in popularity,

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Is genetic testing of value for ALS patients?

January 19, 2018 – Patients suffering from amyotrophic lateral sclerosis (ALS) find value in genetic testing for the disease, whether or not they have a family history of the condition, according to findings from a survey conducted by U.S. researchers, just published in the November 2017 issue of Molecular Genetics &

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  • Metabolomics meets genomics to improve patient diagnosis July 7, 2020
    A patient and family walk into a doctor's office. They hope that the latest tests will reveal what is causing the patient's illness and end the diagnostic odyssey they have been going through for years. Having an accurate diagnosis also means that maybe there is a treatment that at least can alleviate the patient's condition.
  • 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 […]
  • Hearing and visual impairments linked to elevated dementia risk July 8, 2020
    Older adults with both hearing and visual impairments--or dual sensory impairment--had a significantly higher risk for dementia in a recent study published in Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring.
  • Certain jobs linked to higher risk of knee osteoarthritis July 8, 2020
    Workers in jobs that typically involve heavy lifting, frequent climbing, prolonged kneeling, squatting, and standing face an increased risk of developing knee osteoarthritis. That's the conclusion of a new analysis published in Arthritis Care & Research.
  • Bacteria in infants' first stool may indicate their risk of obesity July 8, 2020
    Meconium--the earliest stool of an infant -- is composed of materials ingested during the time the infant spends in the uterus. A new study published in Pediatric Obesity found that the types of normal bacteria found in the meconium may predict an infant's likelihood of later developing obesity.
  • New trial results question standard treatment plan for rheumatoid arthritis July 8, 2020
    In a clinical trial of patients with rheumatoid arthritis, treatment with a drug called upadacitinib provided greater benefits than methotrexate, the most commonly used initial therapy for rheumatoid arthritis.
  • Early clinical trial tests treatment strategy for pancreatic cancer July 8, 2020
    Pancreatic cancer carries a poor prognosis, and it often goes undetected until advanced stages. A new BJS (British Journal of Surgery) study indicates that a certain cocktail of chemotherapy drugs may be a safe and effective treatment option for patients with a metastatic form of the disease.
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