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A patient with a genetic form of childhood blindness gained vision, which lasted more than a year, after receiving a single injection of an experimental RNA therapy into the eye.

The gene editing research was conducted at the Perelman School of Medicine in the University of Pennsylvania. Results of the case, detailed in a paper published April 1 in Nature Medicine, show that the treatment led to marked changes at the fovea, the most important point of human central vision.

In the international clinical trial, participants received an intraocular injection of an antisense oligonucleotide called sepofarsen. This short RNA molecule works by increasing normal CEP290 protein levels in the eye’s photoreceptors and improving retinal function under day vision conditions.

The team found that feeding mice a high fat diet disrupted the circuit, which led not only to weight gain but also to signs of anxiety and depression on standard behavioral tests.

When the researchers used genetic techniques to restore the normal functioning of nerve receptors in the circuit, this resulted in weight loss and eliminated the animals’ signs of anxiety and depression.

A recent study in mice has found that eating a high fat diet may disrupt a newly discovered neural circuit that affects both mood and appetite.

Continue reading “Faulty brain circuit helps explain obesity–depression link” »

This genetic connection caught many scientists off guard, and it remains “one of the most intriguing and poorly understood events in human history,” the researchers wrote in the new study.

To investigate the Y signal further, a team of scientists in Brazil and Spain dove into a large dataset containing the genetic data of 383 Indigenous people from different parts of South America. The team applied statistical methods to test whether any of the Native American populations had “excess” genetic similarity with a group they called the Australasians, or Indigenous peoples from Australia, Melanesia, New Guinea and the Andaman Islands in the Indian Ocean.

In other words, the team was assessing whether “a given Native American population shared significantly more genetic variants with Australasians than other Native Americans do,” Hünemeier and Araújo Castro e Silva said. South American groups that did have more genetic similarities with Australasians were interpreted by the new researchers as being descendants of the first Americans and Australasian ancestors, who coupled together at least 15000 years ago.

Today, we chronicle the progress of partial cellular reprogramming and discuss how this powerful treatment may be able to reprogram cells back into a youthful state, at least partially reversing epigenetic alterations, one of the proposed reasons we age.

For those of you new to the subject of epigenetic alterations you can learn more by clicking on the topic box below, for the more seasoned readers, feel free to skip ahead.

Gene editing has shown great promise as a non-heritable way to treat a wide range of conditions, including many genetic diseases and more recently, even COVID-19. But could a version of the CRISPR gene-editing tool also help deliver long-lasting pain relief without the risk of addiction associated with prescription opioid drugs?

In work recently published in the journal Science Translational Medicine, researchers demonstrated in mice that a modified version of the CRISPR system can be used to “turn off” a gene in critical neurons to block the transmission of pain signals [1]. While much more study is needed and the approach is still far from being tested in people, the findings suggest that this new CRISPR-based strategy could form the basis for a whole new way to manage chronic pain.

This novel approach to treating chronic pain occurred to Ana Moreno, the study’s first author, when she was a Ph.D. student in the NIH-supported lab of Prashant Mali, University of California, San Diego. Mali had been studying a wide range of novel gene-and cell-based therapeutics. While reading up on both, Moreno landed on a paper about a mutation in a gene that encodes a pain-enhancing protein in spinal neurons called NaV1.7.

“The axons of nerve cells function a bit like a railway system, where the cargo is essential components required for the cells to survive and function. In neurodegenerative diseases, this railway system can get damaged or blocked,” Tasneem Khatib, the study’s first author, explained in a statement. “We reckoned that replacing two molecules that we know work effectively together would help to repair this transport network more effectively than delivering either one alone, and that is exactly what we found.”

Most neurodegenerative diseases are caused by multiple genetic abnormalities, making them difficult to address with gene therapy targeted at single mutations. Astellas is working on a gene therapy that expresses two proteins, and a University of Cambridge team has shown that it holds promise in glau…

UC scientists and physicians hope to permanently cure patients of sickle cell disease by using CRISPR-Cas9 to replace a defective gene with the normal version.

In 2014, two years after her Nobel Prize-winning invention of CRISPR-Cas9 genome editing, Jennifer Doudna thought the technology was mature enough to tackle a cure for a devastating hereditary disorder, sickle cell disease, that afflicts millions of people around the world, most of them of African descent. Some 100000 Black people in the U.S. are afflicted with the disease.

Continue reading “FDA approves first test of CRISPR to correct genetic defect causing sickle cell disease” »

Researchers in Australia have discovered a gene responsible for a particularly aggressive type of hormone-sensitive breast cancer which has tragically low survival rates.

“Hopefully this will dramatically improve the poor outcomes these patients currently suffer,” said Harry Perkins Institute of Medical Research epigeneticist Pilar Blancafort.

It’s hard to overstate just how different cancers can be from one another. Even under the umbrella of ‘breast cancer’ lie several types, such as hormone receptor sensitive, HER2 positive, or non-hormone sensitive breast cancer; within those groups, there are even more types that can respond to treatments differently from one another.

Experiments with this antibody revealed that BMP signaling is essential for determining the number of teeth in mice. Moreover, a single administration was enough to generate a whole tooth.

Japan — The tooth fairy is a welcome guest for any child who has lost a tooth. Not only will the fairy leave a small gift under the pillow, but the child can be assured of a new tooth in a few months. The same cannot be said of adults who have lost their teeth.

A new study by scientists at Kyoto University and the University of Fukui, however, may offer some hope. The team reports that an antibody for one gene — uterine sensitization associated gene-1 or USAG-1 — can stimulate tooth growth in mice suffering from tooth agenesis, a congenital condition. The paper was published in Science Advances.

Continue reading “New drug to regenerate lost teeth” »