Lifeboat Foundation

It is well established that rare, damaging genetic variants with strong effects contribute to autism. Although individually rare, these variants are collectively common: Clinical genetic testing identifies them in at least 25 percent of autistic people. Studies of these variants have implicated more than 100 genes — and counting — in autism.

Identifying these genes is important — not only for clinical care, but also for advancing our understanding of the neural circuits and processes involved in autism or in its core traits. It creates the opportunity to develop therapies targeted to specific molecular diagnoses. And as we learn more about these genes and the consequences of variants that disrupt their function, we have the potential to better understand the mechanisms underlying cases of autism in which a definitive genetic diagnosis cannot yet be made.

But the genetic findings in people with autism are not unique; deleterious variants in the same genes are also implicated in other neurodevelopmental conditions, such as intellectual disability, epilepsy, attention deficit hyperactivity disorder and schizophrenia. Specific genes and variants do not map neatly onto categorical clinical diagnoses or the core cognitive and behavioral traits that define them. In fact, there is not yet a single example of a gene that, when mutated, increases the likelihood of autism but not of other neurodevelopmental conditions.

Long but annotated! Most important here is human data for specific treatments due out starting in May or June. And apparently they had a mouse study where they expected a paper due out already but other groups chimed in to help with more testing so there is a delay.

Liz Parrish, CEO of BioViva Science and patient zero of biological rejuvenation with gene therapies, is interviewed by Zora Benhamou on her fresh podcast “HackMyAge”.

Continue reading “Liz Parrish goes deep into gene therapies at the HackMyAge Podcast by Zora (March 2021)” »

Summary: A new genetic engineering strategy significantly reduces levels of tau in animal models of Alzheimer’s disease. The treatment, which involves a single injection, appears to have long-last effects.

Source: Mass General.

Researchers have used a genetic engineering strategy to dramatically reduce levels of tau–a key protein that accumulates and becomes tangled in the brain during the development of Alzheimer’s disease–in an animal model of the condition.

The regeneration of damaged central nervous system (CNS) tissues is one of the biggest goals of regenerative medicine.

Most stroke victims don’t receive treatment fast enough to prevent brain damage. Scientists at The Ohio State University Wexner Medical Center, College of Engineering and College of Medicine have developed technology to “retrain” cells to help repair damaged brain tissue. It’s an advancement that may someday help patients regain speech, cognition and motor function, even when administered days after an ischemic stroke.

Engineering and medical researchers use a process created by Ohio State called tissue nanotransfection (TNT) to introduce genetic material into cells. This allows them to reprogram skin cells to become something different—in this case vascular cells—to help fix damaged brain tissue.

Continue reading “New technology ‘retrains’ cells to repair damaged brain tissue in mice after stroke” »

The development of gene therapy, in particular gene editing using the CRISPR-Cas9 method, has prompted a lively discussion around the world about how deeply you can interfere with the human genome. The creators of this method have turned to the world community, including lawyers, to undertake a public discussion of the implications that it can create (The National Academies of Sciences Engineering Medicine, 2015). The most important problem to be resolved in the future, in my opinion, will be the issue of establishing very clear legal principles of liability for damages resulting from the editing of genes in human embryos and reproductive cells. However, before this happens, it is necessary to show the possible legal problems that may arise and that will certainly appear in future legislative work in the world. Questions must be asked to which world legal experts will need to seek answers. The goal of this paper is to show the possible legal problems and ask questions related to the liability for damages resulting from the editing of genes in human embryos and reproductive cells that will be answered in the future.

Private law considerations will be based on Polish law, although it should be pointed out that the conclusions derived from them appear to be of universal nature for different legal systems. Despite the fact that legal considerations will refer to the regulation of Polish law, the subject of the analysis will also be the differences in the legal qualification of reproductive cells and embryos in other European legislations. It seems that nowhere in the world are there special regulations regarding the liability for damage related to the genetic editing of reproductive cells or embryos. Therefore, there is a need to present new challenges for classic private law institutions, such as legal abilities, torts, or liability for damages. Due to the lack of uniform European regulations and different conflicts of rights the subject of analysis will not be wrongful life and wrongful birth actions, but only claims of prenatal damage to a child.

The first major legal problem facing the international community is, of course, the question of the legal acceptability of the editing of genes of human reproductive cells and embryos (van Dijke et al., 2018). In this regard, it should be pointed out that despite the initial demand to ban such editing, over time, increasingly more scientists have pointed to the fact that it is not possible to maintain such a moratorium (Doudna and Sternberg, 2017). Jiankui’s presentation at the Second International Summit on Human Genome Editing on November 272018, showed that the introduction of a moratorium on genetic modifications of embryos in Europe, the condemnation of such research by a group of 120 of the greatest geneticists, even the Chinese regulations (Zhang and Lie, 2018) will not limit its conduct (Cyranoski and Ledford, 2018). Globalization of the medical market means that if any procedures are allowed on other continents, they will also become available to Europeans (Lunshof, 2016).

“The furin cleavage site consists of four amino acids PRRA, which are encoded by 12 inserted nucleotides in the S gene. A characteristic feature of this site is an arginine doublet. This insertion could have occurred by random insertion mutation, recombination or by laboratory insertion. The researchers say the possibility of random insertion is too low to explain the origin of this motif. Surprisingly, the CGGCGG codons encoding the two arginines of the doublet in SARS-CoV-2 are not found in any of the furin sites in other viral proteins expressed by a wide range of viruses. Even within the SARS-CoV-2, where arginine is encoded by six codons, only a minority of arginine residues are encoded by the CGG codon. Again, only two of the 42 arginines in the SARS-CoV-2 spike are encoded by this codon — and these are in the PRRA motif. For recombination to occur, there must be a donor, from another furin site and probably from another virus. In the absence of a known virus containing this arginine doublet encoded by the CGGCGG codons, the researchers discount the recombination theory as the mechanism underlying the emergence of PRRA in SARS-CoV-2.”

The ongoing pandemic of coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has largely defied attempts to contain its spread by non-pharmaceutical interventions (NPIs). With the massive loss of life and economic damage, the only way out, in the absence of specific antiviral therapeutics, has been the development of vaccines to achieve population immunity.

A new study on the Preprints server discusses the origin of the furin cleavage site on the SARS-CoV-2 spike protein, which is responsible for the virus’s relatively high infectivity compared to relatives in the betacoronavirus subgenus.

Continue reading “The origin of SARS-CoV-2 furin cleavage site remains a mystery” »

Substantial transmission of SARS-CoV-2 infection occurred in the population of Wuhan in December 2019 with most cases reported in the second half of that month. Many early reported cases were associated with Huanan Market, indicating that it was one of the focus of the transmission. Nevertheless, transmission was also occurring elsewhere in Wuhan at the same time.

It is not possible on the basis of the current epidemiological information to determine how the SARS-CoV-2 was introduced into the Huanan Market. Substantial transmission of SARS-CoV-2 infection occurred among the population of Wuhan in December 2019.

While some of the early cases had an association with the Huanan Seafood Market, others were associated with other markets and other cases have no market association at all. It is likely that Huanan Seafood Market acted as a focus for transmission of the virus, but there are also transmissions appearing to have the occurrence elsewhere in Wuhan at the same time. This is our basic judgment. It is not possible on the basis of the current information to determine how SARS-CoV-2 was introduced into the Huanan Market.

The third part of my introduction will be the research of the animal environment group, the third group of our joint mission. Coronaviruses that phylogenetically relate to SARS-CoV-2 have been identified in different animals, including horseshoe bats and pangolins. Sampling of bats in Hubei Province, however, has failed to identify evidence of SARS-CoV-2-related viruses and sampling of wildlife in different places in China has so far failed to identify the presence of SARS-CoV-2.

Continue reading “COVID-19 Virtual Press conference transcript” »

Summary: A new technique which involves fusing human and chimpanzee skin cells that have been modified to act like stem cells, allowed researchers to identify two novel genetic differences between humans and chimps.

Source: Stanford University.

One of the best ways to study human evolution is by comparing us with nonhuman species that, evolutionarily speaking, are closely related to us. That closeness can help scientists narrow down precisely what makes us human, but that scope is so narrow it can also be extremely hard to define. To address this complication, researchers from Stanford University have developed a new technique for comparing genetic differences.

Today on the Science Talk podcast, Noam Slonim speaks to Scientific American about an impressive feat of computer engineering: an AI-powered autonomous system that can engage in complex debate with humans over issues ranging from subsidizing preschool and the merit of space exploration to the pros and cons of genetic engineering.

In a new Nature paper, Slonim and colleagues show that across 80 debate topics, Project Debater’s computational argument technology has performed very decently—with a human audience being the judge of that. “However, it is still somewhat inferior on average to the results obtained by expert human debaters,” says Slonim.

Continue reading “AI Can Now Debate with Humans and Sometimes Convince Them, Too” »