Study confirms genetic link in cerebral palsy — ScienceDaily

An international research team including the University of Adelaide has found further evidence that rare gene mutations can cause cerebral palsy, findings which could lead to earlier diagnosis and new treatments for this devastating movement disorder.

In the study published in the journal Nature Genetics researchers employed gene sequencing to examine the DNA of 250 cerebral palsy families, and compared this to a control group of almost 1800 unaffected families. They then demonstrated the impact rare gene mutations can have on movement control using a fruit fly model.

The findings have important clinical implications. They will provide some answers to parents, as well as guide healthcare and family planning such as counselling for recurrence risk — often quoted as around 1 per cent but could be as high as 10 per cent when factoring in genetic risks.

Co-author of the research, Emeritus Professor Alastair MacLennan, AO, at the University of

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Study may advance genetic therapies for blindness and other injuries to the central nervous system — ScienceDaily

Working with fish, birds and mice, Johns Hopkins Medicine researchers report new evidence that some animals’ natural capacity to regrow neurons is not missing, but is instead inactivated in mammals. Specifically, the researchers found that some genetic pathways that allow many fish and other cold-blooded animals to repair specialized eye neurons after injury remain present in mammals as well, but are turned off, blocking regeneration and healing.

A description of the study, published online by the journal Science on Oct. 1, offers a better understanding of how genes that control regeneration are conserved across species, as well as how they function. This may help scientists develop ways to grow cells that are lost due to hereditary blindness and other neurodegenerative diseases.

“Our research overall indicates that the potential for regeneration is there in mammals, including humans, but some evolutionary pressure has turned it off,” says Seth Blackshaw, Ph.D., professor of

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Jennifer Doudna’s New Gene Editing Company Launches With A $20 Million Round To Develop Genetic Medicines

What if you had a tool to change the genetic instructions that cause disease?

That’s what San Francisco-based Scribe Therapeutics hopes to do with its next-generation platform for gene editing.

Today, the company announced a collaboration with Biogen to develop CRISPR-based genetic medicines for neurological diseases, including Amyotrophic Lateral Sclerosis (ALS).

CRISPR, you may remember, is a powerful tool used to control the genes (or genetic instructions) that are active in plants, animals, and even humans. With CRISPR gene editing, researchers can “silence” undesirable traits, and, potentially, add desirable traits. 

Over the past few years, CRISPR gene editing has been used to reduce the severity of genetic deafness and treat sickle-cell anemia in mice. Today, CRISPR is considered

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Radiator-like fluid systems adjust the genetic wiring inside human liver cells in preliminary work toward artificial organ-tissue engineering — ScienceDaily

Bioengineers are devising a hot new technology to remotely control the positioning and timing of cell functions to build 3-dimensional, artificial, living tissues.

The labs of Kelly Stevens at the UW Medicine Institute of Stem Cell and Regenerative Medicine in Seattle, and Jordan Miller at Rice University in Houston, are collaborating to develop bio-printed, organ-like tissues, such as liver and lung constructs.

The Steven’s lab has the long-term vision of building liver tissues that simulate some of the many, complex functions of the organ. Those artificial tissues could be used to study, for example, how drugs or toxins act on the liver.

This vital organ is prone to damage from infections, medications, poisons, and common intoxicants, like alcohol. Liver disease affects more than 500 million people worldwide and accounts for more than 2 million deaths each year.

Eventually, researchers would like to be able engineer artificial tissues that could be

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How the Humboldt squid’s genetic past and present can secure its future — ScienceDaily

A group of marine biologists is pushing for more international collaboration to manage the Humboldt squid population after their study to identify its genetic stocks revealed its vulnerability to overfishing by fleets trying to feed the world’s hunger for squids.

Hiroshima University marine biologist Gustavo Sanchez led a team of researchers to find out the genetic structure of the Humboldt squid population in the Eastern Pacific Ocean using two types of DNA markers — the mitochondrial ND2 gene and nuclear microsatellite loci.

The team found that Humboldt squids could trace back their population to three historical matrilineage that spread out during the late Pleistocene and that the species has at least two contemporary genetic stocks homogeneously co-distributed in the northern and southern hemispheres.

Different genetic stocks within a species are usually defined by where they feed and breed. But in Humboldt squids, DNA markers showed no north-south divide. The equator

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How the Humboldt squid’s genetic past and present can secure its future

How the Humboldt squid's genetic past and present can secure its future
A paralarva of the Humboldt squid. These cephalopods emerge from their eggs as one-millimeter paralarvae but grow to over 1.2 meters when they reach maturity. To sustain their growth within their one-year lifespan, these pack hunters go on a feeding frenzy, sometimes eating each other. Credit: Dr. Mitsuo Sakai

A group of marine biologists is pushing for more international collaboration to manage the Humboldt squid population after their study to identify its genetic stocks revealed its vulnerability to overfishing by fleets trying to feed the world’s hunger for squids.


Hiroshima University marine biologist Gustavo Sanchez led a team of researchers to find out the genetic structure of the Humboldt squid population in the Eastern Pacific Ocean using two types of DNA markers—the mitochondrial ND2 gene and nuclear microsatellite loci.

The team found that Humboldt squids could trace back their population to three historical matrilineage that spread out during the late

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Genetic risk of developing obesity is driven by variants that affect the brain — ScienceDaily

Over the past decade, scientists have identified hundreds of different genetic variants that increase a person’s risk of developing obesity. But a lot of work remains to understand how these variants translate into obesity. Now scientists at the University of Copenhagen have identified populations of cells in the body that play a role in the development of the disease — and they are all in the brain.

“Our results provide evidence that biological processes outside the traditional organs investigated in obesity research, such as fat cells, play a key role in human obesity,” says Associate Professor Tune H Pers from the Novo Nordisk Foundation Center for Basic Metabolic Research (CBMR), at the University of Copenhagen, who published his team’s findings in the internationally-recognized journal eLife.

“We identified cell types in the brain that regulate memory, behavior and processing of sensory information that are involved in the development of the

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Genetic testing cost effective for newly diagnosed GIST — ScienceDaily

Because gastrointestinal stromal tumors (GIST) are sensitive to the targeted small molecule therapy imatinib, oncologists tend to treat all patients with metastatic GIST with this drug. However, because this rare type of cancer is caused by different genetic mutations, imatinib does not help all patients equally.

To determine whose cancer may be most responsive, the National Comprehensive Cancer Network suggests that patients undergo genetic testing to identify each individuals’ tumor mutations. And yet, only 30 percent of patients have genetic testing at the time of diagnosis, likely due to concerns over cost and utility of testing, said Jason Sicklick, MD, professor of surgery in the Division of Surgical Oncology at University of California San Diego School of Medicine.

“We recommend that all patients with a new diagnosis of metastatic GIST undergo genetic testing prior to the initiation of first-line chemotherapy,” said Sicklick, surgical oncologist and co-leader of the Sarcoma Disease

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Genetic differences in body fat shape men and women’s health risks — ScienceDaily

New research is revealing how genetic differences in the fat in men’s and women’s bodies affect the diseases each sex is likely to get.

University of Virginia researchers Mete Civelek, PhD, Warren Anderson, PhD, and their collaborators have determined that differences in fat storage and formation in men and women strongly affect the activity of 162 different genes found in fat tissue. Further, 13 of the genes come in variants that have different effects in men and women.

Some of those genes identified have already been connected with conditions such as type 2 diabetes and cardiovascular disease. The findings help explain the differing health risks men and women face, and they set the stage for better, more targeted treatments.

“Obesity is associated with a number of health risks, and how men and women store excess calories as fat makes a difference in how they have different susceptibilities to common diseases,”

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White supremacists believe in genetic ‘purity,’ but science shows no such thing exists

dna
Credit: Pixabay/CC0 Public Domain

Far-right white supremacist ideology is on the rise in Europe, North America and Australia. It appeals to a racist notion whereby many white supremacists see themselves as members of a “pure” race that is at risk of dilution and contamination.


Science does not support the idea of pure races with ancient origins. In the past few years, genetic sequencing of ancient and modern humans and related species has given us a flood of new information about how human populations have evolved.

The evidence reveals a history of ongoing genetic mingling, due to interbreeding between different populations and even species. Humans from different groups had children together, and even with Neanderthals and members of other now-extinct hominin species.

This mingling occurred constantly in the long process of human migration across the globe. Europeans inhabit one region of a large genetic continuum and are no more or less

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