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Category: biotech/medical – Page 2,151

New insights into evolution: Why genes appear to move around

Scientists at Uppsala University have proposed an addition to the theory of evolution that can explain how and why genes move on chromosomes. The hypothesis, called the SNAP Hypothesis, is presented in the scientific journal PLOS Genet ics.

Life originated on Earth almost 4 billion years ago and diversified into a vast array of species. How did this diversification occur? The Theory of Evolution, together with the discovery of DNA and how it replicates, provide an answer and a mechanism. Mutations in DNA occur from generation to generation, and can be selected if they help individuals to adapt better to their environment. Over time, this has led to the separation of organisms into the different species that now inhabit all ecosystems.

Current theory holds that evolution involves mistakes made when replicating a gene. This explains how genes can mutate over time and acquire new functions. However, a mystery in biology is that the relative locations of genes on also change over time. This is obvious in bacteria, as different species often have the same genes in very different relative locations. Since the , genes have apparently been changing location. The questions are, how and why do genes move their relative locations?

Researchers catalog dozens of mutations in crucial brain development gene

An international team of researchers that pooled genetic samples from developmentally disabled patients from around the world has identified dozens of new mutations in a single gene that appears to be critical for brain development.

“This is important because there are a handful of that are recognized as ‘hot spots’ for causing ,” said lead author Debra Silver, an associate professor of molecular genetics and microbiology in the Duke School of Medicine. “This gene, DDX3X, is going to be added to that list now.”

An analysis led by the Elliott Sherr lab at the University of California-San Francisco found that half of the DDX3X mutations in the 107 children studied caused a loss of function that made the gene stop working altogether, but the other half caused changes predicted to disrupt the function of the gene.

Gene Therapy Is Successfully Treating a Common Form of Inherited Blindness

This month, K.L. became one of the first patients to receive a new experimental gene therapy for children with a severe form of inherited vision loss. The treatment, currently not yet named, targets young men who are susceptible to a particularly vicious genetic disorder that gradually destroys the light-sensing portion of their eyes.

Within a month following a single injection, “my vision was beginning to return in the treated eye. The sharpness and depth of colors I was slowly beginning to see were so clear and attractive,” said K.L.

The trial, a first-in-human case for X-linked Retinitis Pigmentosa (RP), was led by Dr. Robert MacLaren at the University of Oxford but spanned multiple centers including the Bascom Palmer Eye Institute in Miami, which previously championed Luxterna, the first FDA-approved gene therapy for a type of inherited blindness. The results are some of the first targeting a particularly difficult gene prone to mutation in humans. Amazingly, despite some inflammation in early stages, the therapy provided massive improvements in eyesight as early as two weeks following treatment.

MERS Coronavirus Disease Blocked by Remdesivir in Monkeys

Researchers at the National Institute of Allergy and Infectious Diseases (NIAID) report new data that support the hypothesis that remdesivir, a drug with broad antiviral activity, may be a promising treatment against Middle East respiratory syndrome coronavirus (MERS-CoV).

In the team’s experiments, remdesivir reduced the severity of disease, virus replication, and damage to the lungs when administered to infected monkeys. The authors suggest that it be considered for implementation in clinical trials and that it may also have utility for other, related coronaviruses, such as SARS-CoV-2 (previously known as 2019-nCoV).

The experimental antiviral remdesivir successfully prevented disease in rhesus macaques infected with MERS-CoV. Remdesivir prevented disease when administered before infection and improved the condition of macaques when given after the animals already were infected.

The designer baby debate could start a war

Is it so outlandish to believe that countries in the future might resort to military force to prevent other countries from altering the shared genetic code of humanity? Many countries have been invaded for far less.

The genetics revolution that will transform our health care, the way we make babies, the nature of the babies we make, and ultimately our evolutionary trajectory as a species has already begun. Just like parents in many places will need to make tough choices about whether, if at all, to genetically engineer their children, states will be forced to make monumental collective decisions on these issues with potentially fateful consequences.

Imagine you are the leader of a society that has chosen to opt out of the genetic arms race by banning embryo selection and the genetic alteration of human sperm, eggs, and embryos. Because your country is progressive enough to make a collective decision like this, parents desiring these services are free to go elsewhere to get what they want. But preventing the genetic alteration of your population by definition requires both restricting genetic enhancement at home and enhanced people or expectant mothers carrying genetically altered embryos from entering your country.

To protect the genetic integrity of your populations and keep genetically enhanced people out, you would need to perform genetic tests on all people entering the country. But there would likely be no way of knowing whether a person had been genetically enhanced without knowledge of their genetic baseline—their genome prior to any changes. For those few people for whom genetic information from the moment a few days after their conception is available, their former and current genetics could be compared. Everyone not able to provide baseline genetic information might be banned from entering the country or threatened with long jail terms for procreating with a citizen of it.

Inside the secret Hong Kong group tracking protests, the police, and coronavirus

The synchronized footage, published online in January, was assembled by a mostly anonymous online group of sleuths called Osint HK, which has been keeping tabs on protesters and journalists’ often-violent encounters with police during the more than eight months of Hong Kong’s near-daily anti-government, pro-democracy protests. Osint HK has spent hours each day scouring social networks for videos and other media to document police misconduct across Hong Kong.

The protests are still happening, but they’ve slowed due to fears over the coronavirus, which has been spreading from China across the globe. So Osint HK more recently has begun focusing its efforts on educating the public about the virus.

“People are confused, and they don’t know where to turn,” says Trey Menefee, the founder and public face of Osint HK. “We are trying to be a trusted source of information, cutting through the fog to find out what did or didn’t happen.”

CRISPR was just used in a bid to restore sight to a blind person

The gene-editing tool CRISPR has been used for the first time inside the body of an adult, in an attempt to cure a form of blindness.

The treatment: According to the Associated Press, doctors dripped just a few drops of a gene-editing mixture beneath the retina of a patient in Oregon who suffers from Leber congenital amaurosis, a rare inherited disease that leads to progressive vision loss.

Cells that take up the mixture can have their DNA permanently corrected, potentially restoring a degree of vision.