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showing posts for 'genetic'

Elevated genetic risk for multiple sclerosis emerged in steppe pastoralist populations

"The last 10,000 years have seen some of the most extreme global changes in lifestyle, with the emergence of farming in some regions and pastoralism in others. While 5,000 years ago farmer ancestry predominated across Europe, a relatively diverged genetic ancestry arrived with the steppe migrations around...
Source: nature.com

Newborns to get rapid genetic disease diagnosis

The entire DNA of 100,000 newborns in England will be sequenced to spot rare genetic conditions early.
Source: bbc.com

FDA approves most expensive drug ever, a $3.5 million-per-dose gene therapy for hemophilia B

The single-dose medicine "represents important progress" as the first-ever gene therapy for the rare disorder, the FDA said. ”The Food and Drug Administration cleared Hemgenix, an IV treatment for adults with hemophilia B, the less common form of the genetic disorder which primarily affects men.”
Source: cbsnews.com

Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million

We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12–16%...
Source: nature.com

The 10 Trends Shaping the Future of Pharma - The Medical Futurist

The medical community gradually acknowledges digital health but doesn't embrace it entirely. Familiarize yourself with the future of pharma! Medical Futurist 10 trends shaping the future of pharma Patients on advisory boards - to better know the exact needs Digital health strategy 'around the pill'...
Source: medicalfuturist.com

6 expert essays on the future of biotech

How will biotechnology transform our approach to human health? Scientists from the World Economic Forum's Global Future Council share key insights. World Economic Forum future of biotech DNA technology - genetic screening for disease, recombinant protein production, CAR T cells, gene therapy, organoid...
Source: weforum.org

Coronavirus COVID-19 SARS-CoV-2 information

A collection of information sources for COVID-19. The NHS 111 online COVID-19 service. The first point of call for someone in the UK who thinks they have symptoms or have been exposed whilst travelling. The NHS Coronavirus COVID-19 information webpage. UK Government's Coronavirus action plan. Public...

Milasen - a drug developed for a single patient.

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease | NEJM: Summary Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the...
Source: nejm.org

Teaching a difficult topic in medical genetics using a problem-based concept resembling a computer game.

Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics: E-learning through serious gaming. Teaching concepts such as genetic testing and the digital literacy required to analyse data can...
Source: biomedcentral.com

In a hole in a tunicate there lived a hobbit: New shrimp species named after Bilbo Baggins: A new species of shrimp was

In a hole in a tunicate there lived a hobbit: New shrimp species named after Bilbo Baggins: A new species of shrimp was named after Tolkien's Bilbo Baggins thanks to its small size and hairy feet. The new species, Odontonia bagginsi, was described, figured and named together with another new species:...
Source: eurekalert.org

Early phase drug trial claims a breakthrough in Huntington disease. IONIS-HTT is an antisense "gene-silencing" compound,

Early phase drug trial claims a breakthrough in Huntington disease. IONIS-HTT is an antisense "gene-silencing" compound, injected in to CSF and designed to reduce the production of all forms of the huntingtin (HTT) protein, which in its mutated variant (mHTT) is responsible for Huntington's Disease....
Source: reuters.com

The future is here: Genetically engineered stem cells save a patient: The genetic disease epidermolysis bullosa left a patient

The future is here: Genetically engineered stem cells save a patient: The genetic disease epidermolysis bullosa left a patient without much skin.
Source: arstechnica.com

Epigenetics may explain how Darwin's finches respond to rapid environmental changes, according to new research published

Epigenetics may explain how Darwin's finches respond to rapid environmental changes, according to new research published in the open access journal BMC Evolutionary Biology.
Source: phys.org

Genetic evidence suggests the Canaanites weren’t destroyed after all. Analysis of ancient DNA reveals that the Biblical

Genetic evidence suggests the Canaanites weren’t destroyed after all. Analysis of ancient DNA reveals that the Biblical account isn’t the whole story. "The Canaanites are famous as the bad guys of the Book of Joshua in the Tanakh, or the Hebrew Bible. First, God orders the Hebrews to destroy the...
Source: arstechnica.com

Good read. "Life on the Edge" by Jim Al-Khalili and Johnjoe McFadden covers the fascinating world of quantum biology. Could

Good read. "Life on the Edge" by Jim Al-Khalili and Johnjoe McFadden covers the fascinating world of quantum biology. Could life be a delicate balance that organic molecules can provide to enable quantum coherence? The efficient quantum mechanisms of photosynthesis, magnetoreception, and enzymes are...
Source: amazon.co.uk

Plastic-eating bacteria set to revolutionize waste disposal | ExtremeTech: Genetically engineering a bacterium that eats

Plastic-eating bacteria set to revolutionize waste disposal | ExtremeTech: Genetically engineering a bacterium that eats plastic could fix the world's spiraling problem of waste disposal.
Source: extremetech.com

Junk DNA - a thorough but accessible account of modern genetics covering discoveries since mapping the human genome and

Junk DNA - a thorough but accessible account of modern genetics covering discoveries since mapping the human genome and epigenetics. Genomic imprinting, non-coding RNA, telomeres and ageing, etc. Everything discovered (or I forgot about) since I left medical school basically. Everything was explained...
Source: amazon.co.uk

WHO Looking at Genetically Modified, Sterile Mosquitoes to Control Zika Spread: "The World Health Organization is evaluating

WHO Looking at Genetically Modified, Sterile Mosquitoes to Control Zika Spread: "The World Health Organization is evaluating some newer techniques for mosquito control, given the rapid spread of the Zika virus. One possible method to reduce the populations of Aedes aegypti mosquitoes, which transmit...
Source: jwatch.org

Genetics Confirms Aboriginal Origins - Science News | The Naked Scientists

Genetics Confirms Aboriginal Origins - Science News | The Naked Scientists
Source: thenakedscientists.com

The rise of the robots Excellent read but of a gloomy dystopian future where robots and software take over manual tasks

The rise of the robots Excellent read but of a gloomy dystopian future where robots and software take over manual tasks (as they already have done) and also skilled labour displacing even highly skilled jobs in time. Healthcare might survive a little longer but physicians assistants empowered by...
Source: amazon.co.uk