Lifeboat Foundation

The first gene therapy that can treat Duchenne muscular dystrophy (DMD) has been approved by the U.S. Food and Drug Administration; it will be marketed as Elevidys (delandistrogene moxeparvovec-rokl) by Sarepta Therapeutics Inc. Children aged four to five with the disorder and confirmed gene mutations will be eligible to receive the one-time treatment if insurers approve, as the cost is $3.2 million per patient.

DMD is caused by mutations in a gene called dystrophin, which results in a serious lack of functional dystrophin protein. The gene therapy works by sending a gene that can produce a shortened version of the dystrophin protein to patients; the company has termed it Elevidys micro-dystrophin.

In a new paper published today in Nature, researchers at the Francis Crick Institute have outlined the structure and function of a protein complex that is required to repair damaged DNA and protect against cancer.

Every time a cell replicates, mistakes can happen in the form of mutations, but specialized proteins exist to repair the damaged DNA.

People with mutations in a DNA repair protein called BRCA2 are predisposed to breast, ovarian and prostate cancers, which often develop at a young age. In the clinic, these cancers are treated with a drug that inhibits PARP, another protein needed for DNA repair.

Summary: Scientists used mathematics to explain the social phenomenon of six degrees of separation.

Their work suggests that the balance between the cost and benefit of maintaining social connections shapes the global human social network. According to their findings, individual efforts to optimize their social connections result in an average of six steps between any two people.

Continue reading “Six Degrees of Connection: A Mathematical Take on Social Ties” »

Researchers at the University of California San Diego School of Medicine have led a study to examine a potential new treatment option for patients with non-alcoholic steatohepatitis (NASH)-related fibrosis.

The results, published in the June 24, 2023, online edition of The New England Journal of Medicine, found that a drug that mimics a hormone in the body improved both liver fibrosis, or scarring of the liver, and liver inflammation in patients with NASH.

“Identifying an effective drug for NASH is extremely promising for patients as currently there are no FDA-approved therapies for this condition,” said Rohit Loomba, MD, the study’s first author and chief of the Division of Gastroenterology and Hepatology at UC San Diego School of Medicine. “NASH can adversely impact the quality of life in patients and can progress to cirrhosis. Its complications can lead to death or liver transplantation. Our findings will further the science of this disease and provide a potential new treatment option to those affected by NASH-related fibrosis.”

Most stroke patients taking the anticoagulant warfarin were no more likely than those not on the medication to experience a brain bleed when undergoing a procedure to remove a blood clot, UT Southwestern Medical Center researchers report in a new study. The findings, published in JAMA, could help doctors better gauge the risk of endovascular thrombectomy (EVT), potentially expanding the pool of eligible patients for this mainstay stroke treatment.

Warfarin is a type of blood thinner commonly used to prevent stroke because of heart conditions such as atrial fibrillation. Although not very common, patients taking warfarin may still experience a stroke. In clinical practice, it’s very possible that some physicians may withhold an endovascular thrombectomy because patients have been treated with warfarin before their strokes.

Our study could increase the number of patients for whom this lifesaving and function-saving surgery would be appropriate, said study leader Ying Xian, M.D., Ph.D., Associate Professor of Neurology and in the Peter O’Donnell Jr. School of Public Health at UT Southwestern. Dr. Xian is also Section Head of Research, Stroke and Cerebrovascular Diseases in the Department of Neurology at UTSW.

Paper published in Molecules (ISSN 1420–3049) discusses the efficient delivery of curcumin, a well-known anti-inflammatory antioxidant, as a potential candidate for glioblastoma (GB) treatment.

Access the paper👇.

Glioblastoma (GB) is a deadly and aggressive cancer of the CNS. Even with extensive resection and chemoradiotherapy, patient survival is still only 15 months. To maintain growth and proliferation, cancer cells require a high oxidative state. Curcumin, a well-known anti-inflammatory antioxidant, is a potential candidate for treatment of GB. To facilitate efficient delivery of therapeutic doses of curcumin into cells, we encapsulated the drug in surface-modified polyamidoamine (PAMAM) dendrimers. We studied the in vitro effectiveness of a traditional PAMAM dendrimer (100% amine surface, G4 NH2), surface-modified dendrimer (10% amine and 90% hydroxyl-G4 90/10-Cys), and curcumin (Cur)-encapsulated dendrimer (G4 90/10-Cys-Cur) on three species of glioblastoma cell lines: mouse-GL261, rat-F98, and human-U87.

The greatest hazard for humans on deep-space exploration missions is radiation. To protect astronauts venturing out beyond Earth’s protective magnetosphere and sustain a permanent presence on Moon and/or Mars, advanced passive radiation protection is highly sought after. Due to the complex nature of space radiation, there is likely no one-size-fits-all solution to this problem, which is further aggravated by up-mass restrictions. In search of innovative radiation-shields, biotechnology holds unique advantages such as suitability for in-situ resource utilization (ISRU), self-regeneration, and adaptability. Certain fungi thrive in high-radiation environments on Earth, such as the contamination radius of the Chernobyl Nuclear Power Plant. Analogous to photosynthesis, these organisms appear to perform radiosynthesis, using pigments known as melanin to convert gamma-radiation into chemical energy. It is hypothesized that these organisms can be employed as a radiation shield to protect other lifeforms. Here, growth of Cladosporium sphaerospermum and its capability to attenuate ionizing radiation, was studied aboard the International Space Station (ISS) over a time of 30 days, as an analog to habitation on the surface of Mars. At full maturity, radiation beneath a ≈ 1.7 mm thick lawn of the melanized radiotrophic fungus (180° protection radius) was 2.17±0.35% lower as compared to the negative control. Estimations based on linear attenuation coefficients indicated that a ~ 21 cm thick layer of this fungus could largely negate the annual dose-equivalent of the radiation environment on the surface of Mars, whereas only ~ 9 cm would be required with an equimolar mixture of melanin and Martian regolith. Compatible with ISRU, such composites are promising as a means to increase radiation shielding while reducing overall up-mass, as is compulsory for future Mars-missions.

The authors have declared no competing interest.

Cardiovascular disease (CVD) is the leading cause of death worldwide and considered one of the most environmentally driven diseases. The role of DNA methylation in response to the individual exposure for the development and progression of CVD is still poorly understood and a synthesis of the evidence is lacking.

A systematic review of articles examining measurements of DNA cytosine methylation in CVD was conducted in accordance with PRISMA (preferred reporting items for systematic reviews and meta-analyses) guidelines. The search yielded 5,563 articles from PubMed and CENTRAL databases. From 99 studies with a total of 87,827 individuals eligible for analysis, a database was created combining all CpG-, gene-and study-related information. It contains 74,580 unique CpG sites, of which 1,452 CpG sites were mentioned in ≥ 2, and 441 CpG sites in ≥ 3 publications. Two sites were referenced in ≥ 6 publications: cg01656216 (near ZNF438) related to vascular disease and epigenetic age, and cg03636183 (near F2RL3) related to coronary heart disease, myocardial infarction, smoking and air pollution. Of 19,127 mapped genes, 5,807 were reported in ≥ 2 studies.

Last spring, engineers in Barcelona packed up the sperm-injecting robot they’d designed and sent it by DHL to New York City. They followed it to a clinic there, called New Hope Fertility Center, where they put the instrument back together, assembling a microscope, a mechanized needle, a tiny petri dish, and a laptop.

Then one of the engineers, with no real experience in fertility medicine, used a Sony PlayStation 5 controller to position a robotic needle. Eyeing a human egg through a camera, it then moved forward on its own, penetrating the egg and dropping off a single sperm cell. Altogether, the robot was used to fertilize more than a dozen eggs.

The result of the procedures, say the… More.

Continue reading “The first babies conceived with a sperm-injecting robot have been born” »