herenciageneticayenfermedad: Genetics

miércoles, 21 de marzo de 2018

Genetics - Mar 21, 2018 Edition

Health News and Information - News Medical

	March 21, 2018
	Genetics
	The latest Genetics news from News Medical

Genetic heart mutations account for fewer sudden and unexplained infant deaths

Researchers have discovered that heart disease caused by genetic mutations account for significantly fewer sudden and unexplained deaths of infants than previously reported.

			What is Genetic Anticipation? Genetic anticipation is a phenomenon in which the symptoms of a genetic condition worsen between generations.

			Researchers develop way to sequence entire fetal genome by modifying prenatal testing method For the first time, researchers have developed a way to sequence the entire genome of a fetus by modifying the prenatal testing method known as amniocentesis.

	Researchers find way to identify undiagnosed genetic diseases in electronic health records Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.

	Medical University of Vienna to partner with bio.logis GIM in pharmacogenetics Within the framework of U-PGx, an EU project for promoting the use of pharmacogenetic insights in healthcare, the Medical University of Vienna will implement the Genetic Information Management Suite developed by bio.logis Genetic Information Management GmbH.

	Genetic counseling missed by some breast cancer patients, study finds As new genes are linked to breast cancer occurring in families and as genetic testing becomes more important in directing treatment for newly diagnosed patients, a substantial number of those at the highest risk are not getting tested.

	Genetic link to insomnia found A new study has found certain genes that predispose a person to develop insomnia or sleep problems. This was one of the largest genome wide studies undertaken on insomnia. The study led by psychiatrist Murray Stein from the University of California San Diego was published in the latest issue of the journal Molecular Psychiatry.

	Whole Genome Sequencing used as diagnostic solution for TB Public Health England has announced that Whole Genome Sequencing (WGS) is now being used to identify different strains of tuberculosis (TB).

	Genomics England announces appointment of global genomics pioneer as first CEO Genomics England announces the appointment of its first Chief Executive Officer (CEO) today. Global genomics pioneer Professor John Mattick will join Genomics England in June. He will lead the organization as work done in the 100,000 Genomes Project provides the foundation for the systems NHS England is mobilizing in its ground breaking Genomic Medicine Service.

	Genetic variant discovery could improve safety, effectiveness of drugs for asthma and COPD Research from the University of Liverpool, published today in Lancet Respiratory Medicine, identifies a genetic variant that could improve the safety and effectiveness of corticosteroids, drugs that are used to treat a range of common and rare conditions including asthma, and chronic obstructive pulmonary disease (COPD).

	Researchers find the heart to be capable of arrhythmia termination after local gene therapy The heart is capable of terminating arrhythmias itself after local gene therapy, potentially avoiding the need for patients to undergo painful electric shocks, according to a proof-of-concept study presented today at EHRA 2018, a European Society of Cardiology congress.

	Researchers identify novel gene involved in familial breast cancer An international research consortium led by Dr Jordi Surrallés, director of the Genetics Service at the Hospital de Sant Pau and professor of Genetics at the UAB, and by Dr Miquel Àngel Pujana, director of the ProCURE Research Programme of the Catalan Institute of Oncology, has identified a novel gene involved in this type of cancer, known as EDC4.

	Common genetic variation shown to increase Alzheimer’s risk A recent study has found that African Americans with a common genetic variation are at an increased risk for developing Alzheimer’s disease.

	What is Satellite DNA? Satellite DNA consists of arrays of tandemly repeating sequences that are widely present in the human genome.