CIENCIASMEDICASNEWS: julio 2020

viernes, 31 de julio de 2020

Researchers develop less invasive genetic tools to understand cellular activity

	Genetics
	The latest Genetics news from News Medical

Researchers develop less invasive genetic tools to understand cellular activity

Graduate student Ubadah Sabbagh placed a cold glass slide on the microscope. It was getting late and the lab was quiet.

			Study uncovers new genetic variants linked to type-2 diabetes After examining the genes of more than 200,000 people all over the world who have type-2 diabetes, researchers from the Perelman School of Medicine at the University of Pennsylvania and the Veterans Health Administration's Corporal Michael J. Crescenz Veterans Affairs Medical Center found hundreds of genetic variants never before linked to the disease.

			Helping to unravel the genetic diversity of cancer tumors The ability to sequence the genome of a tumor has revolutionized cancer treatment over the years by identifying drivers of cancer at the molecular level.

	Genetic sequencing can reveal evolutionary differences in reef-building corals Globally, the rising water temperatures caused by pollution and global warming have impacted the coral reefs that are dwindling at an alarming speed.

	Study shows genetic mutations allow MRSA to develop antibiotic resistance Researchers have discovered that genetic mutations that occur in MRSA enable it to evolve and turn out to be more resistant to antibiotics like penicillin.

	Genetic dysfunction of brain astrocytes promotes head pain in familial migraine Neuroscientists of the University of Zurich shed a new light on the mechanisms responsible for familial migraine: They show that a genetic dysfunction in specific brain cells of the cingulate cortex area strongly influences head pain occurrence.

	Community-based genetic screening has potential to identify individuals at risk for inherited diseases In a new study published today in the journal Nature Medicine, researchers behind the Healthy Nevada Project® suggest that community-based genetic screening has the potential to efficiently identify individuals who may be at increased risk for three common inherited genetic conditions known to cause several forms of cancer and increased risk for heart disease or stroke.

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Study of rare genetic disorder that causes severe eyesight problems

Medical News | Medical Articles

	Rare Diseases
	The latest rare diseases news from News Medical

Study of rare genetic disorder that causes severe eyesight problems

Nagano prefecture is home to a group of people effected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies. This disease impacts the gene encoding protein transthyretin which is produced in the liver and also eyes.

			Whole genome sequencing can improve rare disease diagnosis A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

			Research project launched to find new treatments for rare genetic diseases The University Carlos III Madrid, Almirall, S.A. and the MEDINA Foundation have launched a project to find new treatments for recessive dystrophic epidermolysis bullosa and other genetic diseases caused by nonsense mutations.

	Virginia Tech scientists reveal molecular cause underlying rare genetic disorder Virginia Tech scientists have revealed how a nonfunctioning version of an ordinary gene impairs brain structure and function. The findings help explain a genetic form of microcephaly -- a condition where babies' heads are small and grow more slowly than their peers.

	Study calls for better data framework to enhance rare disease diagnostic rates A better framework for the reanalysis of genetic data, a game-changing process which could improve diagnostic rates by up to 32 per cent, was needed, a new study has found.

	Umbilical cord blood safely and effectively treats children with rare genetic disorders Researchers at UPMC Children's Hospital of Pittsburgh found that infusing umbilical cord blood - a readily available source of stem cells - safely and effectively treated 44 children born with various non-cancerous genetic disorders, including sickle cell, thalassemia, Hunter syndrome, Krabbe disease, metachromatic leukodystrophy (MLD) and an array of immune deficiencies.

	New project launched to find novel treatments for rare genetic diseases The University Carlos III Madrid, Almirall, S.A. and the MEDINA Foundation have launched a project to find new treatments for recessive dystrophic epidermolysis bullosa and other genetic diseases caused by nonsense mutations.

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Three questions to ask yourself before quitting your PhD | Nature Index

Three things to ask before quitting your PhD

Many PhD students are facing tough choices about their future as the pandemic causes laboratory shutdowns and cancelled fieldwork. Walking away without a doctorate will be the right choice for some people, but it’s important to ask the right questions before making a decision. “Students need to separate the fake and real reasons for leaving,” says strategy adviser Shane Huntington.

Nature Index | 5 min read

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JULY 2020
twelve years discovering human health
CIENCIAS MÉDICAS NEWS or EL BIRUNI by CERASALE MORTEO, Víctor Norberto
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