Lifeboat Foundation

As this is the first report of neuro-inflammation in Kleefstra syndrome, the next step is to find out if it also occurs in the human condition. Shinkai believes the chances are high and says he would not be surprised if other neurological diseases caused by epigenetic dysregulation were also related to abnormal inflammation in the brain.

Researchers at the RIKEN Cluster for Pioneering Research (CPR) in Japan report that Kleefstra syndrome, a genetic disorder that leads to intellectual disability, can be reversed after birth in a mouse model of the disease. Published in the scientific journal iScience, the series of experiments led by Yoichi Shinkai showed that postnatal treatment resulted in improved symptoms, both in the brain and in behavior.

Normally, we get two good copies of most genes, one from each parent. In Kleefstra syndrome, one copy of the EHMT1 gene is mutated or missing. This leads to half the normal amount of GLP, a protein whose job is to control genes related to brain development through a process called H3K9 methylation. Without enough GLP, H3K9 methylation is also reduced, and the connections between neurons in the brain do not develop normally. The result is intellectual disability and autistic-like symptoms. “We still don’t know if Kleefstra syndrome is a curable disease after birth or how this epigenetic dysregulation leads to the neurological disorder,” says Shinkai. “Our studies in mice have provided new information about what causes the behavioral abnormalities associated with the syndrome and have shown that a cure is a real possibility in the future.”

Continue reading “A genetic brain disease reversed after birth” »

I remember posting about this a year ago in 2020 from UT Austin.

A Covid therapy derived from a llama named Fifi has shown “significant potential” in early trials.

It is a treatment made of nanobodies\.

Continue reading “Covid: Immune therapy from llamas shows promise” »

India is home to 60% of the world’s leprosy patients, and the MIP vaccine is expected to be rolled out in the endemic areas by 2 October 2019.

Science is examining the brain’s neural activity for applications ranging from innovative therapies for brain-related injuries and disease to computational learning architectures for artificial intelligence and deep neural networks.

A research team has developed a tool that lets researchers see more of a live mouse’s brain, to make discoveries that can advance research into the neural circuit mechanisms that form the underlying behavior of the human brain. The tool overcomes the drawback of traditional brain probes—the small amount of tissue they can access, which limits their ability to image neurons of interest.

The innovation is to insert an imaging probe with side-viewing capabilities into a previously inserted optically matched channel—an ultrathin-wall glass capillary—to convert deep brain imaging into endoscopic imaging. The operator can freely rotate the probe to image different brain regions, getting a 360-degree view for imaging along the entire length of the inserted probe. This large-volume imaging enables an increase of about 1,000 times in tissue access volume, compared with what is available for imaging at the tip of typical miniature imaging probes.

The pharmaceuticals firm GSK has struck a five-year partnership with King’s College London to use artificial intelligence to develop personalised treatments for cancer by investigating the role played by genetics in the disease.

The tie-up, which involves 10 of the drug maker’s artificial intelligence experts working with 10 oncology specialists from King’s across their labs, will use computing to “play chess with cancer”, working out why only a fifth of patients respond well to immuno-oncology treatments.

Merck, known as MSD outside the US and Canada, and Ridgeback Biotherapeutics have announced that its MOV-e-AHEAD study has started to enrol its first participants to test antiviral molnupiravir in post-exposure prophylaxis of COVID-19 infection.

The global study will include approximately 1,332 participants who are 18 years or over and reside in the same household as someone with laboratory-confirmed SARS-CoV-2 infection, has at least one sign or symptom of COVID-19 and has not had those signs and symptoms for more than five days.

Participants will be randomised onto molnupiravir, an investigational oral antiviral therapeutic, or placebo every 12 hours for 5 days. The trial will not look at vaccinated people, those who have had COVID-19 before or anyone showing signs or symptoms of infection.

Continue reading “Merck’s anti-COVID drug molnupiravir moves to phase 3 for prevention” »

Red blood cells are the most abundant cell type in blood, carrying oxygen throughout the human body. In blood circulation, they repetitively encounter various levels of oxygen tension. Hypoxia, a low oxygen tension condition, is a very common micro-environmental factor in physiological processes of blood circulation and various pathological processes such as cancer, chronic inflammation, heart attacks and stroke. In addition, an interplay between poor cellular deformability and impaired oxygen delivery is found in various pathological processes such as sickle cell disease. Sickle red blood cells simultaneously undergo drastic mechanical deformation during the sickling and unsickling process.

The interactions between hypoxia and cell biomechanics and the underlying biochemical mechanisms of the accelerated damage in diseased red blood cells are well understood, however, the exact biomechanical consequences of hypoxia contributing to red blood cell degradation (aging) remains elusive.

Researchers from Florida Atlantic University’s College of Engineering and Computer Science, in collaboration with the Massachusetts Institute of Technology (MIT), sought to identify the role of hypoxia on red blood cell aging via the biomechanical pathways. In particular, they examined hypoxia-induced impairment of red blood cell deformability at the single cell level, compared the differences between non-cyclic hypoxia and cyclic hypoxia, and documented any cumulative effect vs. hypoxia cycles, such as aspects that have not been studied quantitatively. Red blood cell deformability is an important biomarker of its functionality.

Circa 2016

Researchers report major progress in creating a first-of-its-kind implantable artificial kidney that uses microchip filters and live cells and takes power from the patient’s heart.