Lifeboat Foundation

Myotonic dystrophy type I is the most common type of adult-onset muscular dystrophy. People with the condition inherit repeated DNA segments that lead to the toxic buildup of repetitive RNA, the messenger that carries a gene’s recipe to the cell’s protein-making machinery. As a result, people born with myotonic dystrophy experience progressive muscle wasting and weakness and a wide variety of other debilitating symptoms.

CRISPR-Cas9 is a technique increasingly used in efforts to correct the genetic (DNA) defects that cause a variety of diseases. A few years ago, University of California San Diego School of Medicine researchers redirected the technique to instead modify RNA in a method they call RNA-targeting Cas9 (RCas9).

In a new study, publishing September 14, 2020 in Nature Biomedical Engineering, the team demonstrates that one dose of RCas9 gene therapy can chew up toxic RNA and almost completely reverse symptoms in a mouse model of myotonic dystrophy.

A forthcoming study from 23andMe shows that a person’s genetic code could affect how severely they experience Covid-19.

From the data, the GTEx team could identify the relationship between specific genes and a type of regulatory DNA called expression quantitative trait loci, or eQTL. At least one eQTL regulates almost every human gene, and each eQTL can regulate more than one gene, influencing expression, GTEx member and human geneticist Kristin Ardlie of the Broad Institute tells Science.

Another major takeaway from the analyses was that sex affected gene expression in almost all of the tissue types, from heart to lung to brain cells. “The vast majority of biology is shared by males and females,” yet the gene expression differences are vast and might explain differences in disease progression, GTEx study coauthor Barbara Stranger of Northwestern University’s Feinberg School of Medicine tells Science. “In the future, this knowledge may contribute to personalized medicine, where we consider biological sex as one of the relevant components of an individual’s characteristics,” she says in a statement issued by the Centre for Genome Regulation in Barcelona, where some of the researchers who participated in the GTEx project work.

Another of the studies bolsters the association between telomere length, ancestry, and aging. Telomere length is typically measured in blood cells; GTEx researchers examined it in 23 different tissue types and found blood is indeed a good proxy for overall length in other tissues. The team also showed that, as previously reported, shorter telomeres were associated with aging and longer ones were found in people of African ancestry. But not all earlier results held; the authors didn’t see a pattern of longer telomeres in females or constantly shorter telomeres across the tissues of smokers as previous studies had.

Continue reading “New Map Charts Genetic Expression Across Tissue Types, Sexes” »

Because much cancer research and clinical trials have been based on white populations, efforts to explore the ways race and ethnicity influence disease are underway.

Recently, San Diego Zoo partnered up with the wildlife preservation group Revive and Restore and a pet cloning company ViaGen Equine to create an exact copy of Kuporovic. The embryo was planted in a surrogate mother, a common horse.

Shawn Walker, the chief science officer at ViaGen Equine reports “This new Przewalski’s colt was born fully healthy and reproductively normal. He is head butting and kicking when his space is challenged, and he is demanding milk supply from his surrogate mother.”

Continue reading “This Horse Cloned from 40-Year-Old Material Could Save Its Species” »

An endangered type of horse has successfully been cloned by scientists.

Kurt is a newborn Przewalski’s horse, a rare and endangered horse native.

He was born this year on August 6 after experts used genetic material that had been cryopreserved for 40 years.

Continue reading “Kurt the cloned horse was created using 40-year-old genetic material” »

A team of researchers from Stowers Institute for Medical Research, Howard Hughes Medical Institute and Stanford University has discovered conserved regeneration-responsive enhancers linked to tail regeneration in fish common to two species. In their paper published the journal Science, the group describes their genetic study of two fish species and what they learned about the role of conserved regeneration-responsive enhancers in allowing the fish to regenerate tail parts.

As the researchers note, some species are able to regenerate parts of their body when they are lost. For instance, lizards can regrow lost tails, while many other animals, including most mammals, cannot regrow damaged body parts. Despite much research, scientist have not been able to explain this. In this new effort, the researchers have found what they believe to be a major clue—conserved regeneration-responsive enhancers.

Continue reading “Researchers find conserved regeneration-responsive enhancers linked to tail regeneration in fish” »

Since antiquity, cultures on nearly every continent have discovered that certain plant leaves, when chewed or brewed or rubbed on the body, could relieve diverse ailments, inspire hallucinations or, in higher dosages, even cause death. Today, pharmaceutical companies import these once-rare plants from specialized farms and extract their active chemical compounds to make drugs like scopolamine for relieving motion sickness and postoperative nausea, and atropine, to curb the drooling associated with Parkinson’s disease or help maintain cardiac function when intubating COVID-19 patients and placing them on ventilators.

Now, Stanford engineers are recreating these ancient remedies in a thoroughly modern way by genetically reprogramming the cellular machinery of a special strain of yeast, effectively transforming them into microscopic factories that convert sugars and amino acids into these folkloric drugs, in much the same way that brewers’ yeast can naturally convert sugars into alcohol.

A new application of the CRISPR/Cas molecular scissors promises major progress in crop cultivation. At Karlsruhe Institute of Technology (KIT), researchers from the team of molecular biologist Holger Puchta have succeeded in modifying the sequence of genes on a chromosome using CRISPR/Cas. For the first time worldwide, they took a known chromosome modification in the thale cress model plant and demonstrated how inversions of the gene sequence can be undone and inheritance can thus be controlled specifically. The results are published in Nature Communications.

About 5,000 years ago, genetic information of thale cress was modified. To date, it has spread widely and is of major interest to science. On the chromosome 4 of the plant, a so-called inversion occurred: The chromosome broke at two points and was reassembled again. The broken out section was reinserted, but rotated by 180°. As a result, the sequence of genes on this chromosome section was inverted. This chromosome mutation known as “Knob hk4S” in research is an example of the fact that evolution cannot only modify the genetic material of organisms, but determine it for a long term. “In inverted sections, genes cannot be exchanged between homologous chromosomes during inheritance,” molecular biologist Holger Puchta, KIT, explains.