Lifeboat Foundation

Bruce Willis has FTD. I always wondered if gene therapy could help. Apparently so did Passage Bio, and they are doing clinical trials.

FTD is a disorder that affects the frontal and temporal lobes of the brain, areas that control personality, executive function, and language. FTD is a form of early onset dementia and currently has no approved disease-modifying therapies. In approximately 5–10% of individuals with FTD, the disease occurs because of mutations in the GRN gene. These mutations cause a deficiency of progranulin that helps regulate cellular processes.

Continue reading “Gene Therapy Clinical Trial for Frontotemporal Dementia Has Begun” »

Thinks he now has the answer to time travel — but you thankfully won’t be needing a DeLorean like the hit 8’0s movie Back to the Future A scientist believes he has finally cracked the code to enable time travel after having a big ‘eureka’ moment as he lay in hospital.

An ongoing study led by Cedars-Sinai has demonstrated that certain gut bacteria may increase the risk of Type 2 diabetes while others may provide protection against it. These are early results from a prospective study.

According to the study, which was published in the journal Diabetes, higher levels of the bacterium Coprococcus are associated with improved insulin.

Insulin is a hormone that regulates the level of glucose (sugar) in the blood. It is produced by the pancreas and released into the bloodstream when the level of glucose in the blood rises, such as after a meal. Insulin helps to transport glucose from the bloodstream into the cells, where it can be used for energy or stored for later use. Insulin also helps to regulate the metabolism of fat and protein. In individuals with diabetes, their body doesn’t produce enough insulin or doesn’t respond properly to insulin, leading to high blood sugar levels, which can lead to serious health problems if left untreated.

Over 1 million researchers have used the AI breakthrough that helps scientists better understand diseases. Here’s how AlphaFold came to be.

Inflammatory diseases like rheumatoid arthritis have complex disease mechanisms that can differ from patient to patient with the same diagnosis. This means that currently available drugs have little effect on many patients. Using so-called digital twins, researchers at Karolinska Institutet have now obtained a deeper understanding of the “off and on” proteins that control these diseases. The study, which is published in Cell Reports Medicine, can lead to more personalized drug therapies.

Many patients with inflammatory diseases such as rheumatoid arthritis, Crohn’s disease and ulcerative colitis, never feel fully healthy despite being on medication. It is a problem that causes significant suffering and expense.

In an inflammatory disease, thousands of genes alter the way they interact in different organs and cell types. Moreover, the pathological process varies from one patient to another with the same diagnosis, and even within the same patient at different times.

An on-going, worldwide shortage of bacillus Calmette-Guérin (BCG) means that many patients with a common and serious type of bladder cancer have limited access to this effective standard of care treatment. But for the first time in almost 50 years, there appears to be a viable treatment alternative.

A new study from the University of Iowa finds that a safe, inexpensive combo-chemotherapy is better tolerated than BCG and is better at preventing high-grade cancer recurrence in patients with non-muscle invasive bladder cancer (NMIBC).

Bladder cancer is the sixth most common cancer in the U.S., and NMIBC accounts for about 75% of bladder cancer cases. High-risk NMIBC has a significant risk of both recurrence and progression. Typical treatment for high-risk NMIBC involves surgical removal of the tumor followed by treatment with BCG.

For the first time in humans, a research team has shown that, as early as the first days of infection, HIV is able to create reservoirs where it will hide and persist during antiretroviral therapy.

Until now, the scientific community did not know exactly when or how these viral reservoirs—the existence of which is a major obstacle to curing HIV—are established in human beings.

In a study published in the journal Immunity, scientists led by Nicolas Chomont, a researcher at the CHUM Research Centre (CRCHUM) and professor at Université de Montréal, found that a small fraction of the virus integrates into the genome of CD4+ T cells in the very first weeks of infection (the acute phase), but does not replicate there. It therefore escapes the notice of the fastest diagnostic tool to date, which detects active viral replication.

Pheochromocytoma is a rare tumor, with an incidence of three to eight cases per million population per year. The work published today, Feb 28, on Rare Disease Day 2023, in Nature Communications, is the largest study on this cancers’ molecular causes and focuses on patients with metastatic pheochromocytomas, which account for 20% of all cases. Survival of patients with metastatic pheochromocytoma is 20–60% at five years.

Mercedes Robledo, head of the Hereditary Endocrine Cancer Group at the Spanish National Cancer Research Center (CNIO) and one of the two researchers who led the study, has been studying these tumors since 1996. He says, “One of the difficulties of working with rare diseases is to recruit large series of patients to reach robust conclusions. And this study stands out because the number of samples we worked with was outstanding.” The CNIO belongs to the Spanish network of Rare Diseases (CIBERER).

CNIO researcher and co-author Bruna Calsina explains, “The number of patients with metastatic disease that our study gathers corresponds to a population of 100 million people.” This has been possible thanks to the collaboration between 16 centers from six countries around the world, with which the CNIO has been collaborating for the last decade.

A team of researchers led by Northwestern University has achieved a breakthrough by producing the most mature neurons to date from human induced pluripotent stem cells (iPSCs). This advancement opens up new avenues for medical research and the possibility of transplantation therapies for conditions such as neurodegenerative diseases and traumatic injuries.

Previous efforts to turn stem cells into neurons have resulted in functionally immature neurons that resemble those from the early stages of development. The limited maturation achieved through current stem cell culture methods restricts their potential for studying neurodegeneration.

The study was recently published in the journal Cell Stem Cell.