Lifeboat Foundation

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.

During almost two-years of the COVID-19 pandemic, the growth of telemedicine and new ways of reaching people has changed and developed. In October 2021, NASA flight surgeon Dr. Josef Schmid, industry partner AEXA Aerospace CEO Fernando De La Pena Llaca, and their teams were the first humans “holoported” from Earth into space.

Using the Microsoft Hololens Kinect camera and a personal computer with custom software from Aexa, ESA (European Space Agency) astronaut Thomas Pesquet had a two-way conversation with live images of Schmid and De La Pena placed in the middle of the International Space Station. This was the first holoportation handshake from Earth in space.

Holoportation is a type of capture technology that allows high-quality 3D models of people to be reconstructed, compressed and transmitted live anywhere in real time.

Continue reading “Innovative 3D Telemedicine to Help Keep Astronauts Healthy” »

Summary: Researchers are utilizing the C. elegnas worm to investigate the emerging theory that Parkinson’s disease starts in the gut and spreads to the brain.

Source: medical college of georgia at augusta university.

A tiny worm called the C. elegans is enabling scientists to explore the emerging theory that Parkinson’s disease starts in the gut.

Northwestern Medicine scientists have identified the cause of a genetic subtype of autism and schizophrenia that results in social deficits and seizures in mice and humans.

Scientists have discovered a key feature of this subtype is a duplicated gene that results in overactive or overexcited brain circuits. The subtype is called 16p11.2 duplication syndrome.

“We found that mice with the same genetic changes found in humans are more likely to have seizures and also have social deficits,” said lead author Marc Forrest, research assistant professor of neuroscience at Northwestern University Feinberg School of Medicine.

Rare diseases affect 6–8% of the world’s population and, although we know that small changes in the patient’s DNA are responsible for causing the majority of cases, most people wait several years before they are diagnosed and potentially treated. This hunt for an explanation is extremely distressing for the patients and their families, as well as costing healthcare systems large sums of money for medical investigations and treatments.

Background

Even for the simplest cases, where a single change in a patient’s DNA disrupts a gene and always causes the rare disease, identifying which change in the three billion base pairs in each of our genomes is a huge challenge. Prior to the completion of the human genome in 2003, we did not even know what the normal state of affairs was. Even then, the available sequencing technology limited us to only interrogating small parts of a patient’s genome, directed by intelligent guesswork, with mixed results.

The ability to extinguish fear memories when threats are no longer present is critical for adaptive behavior. Fear extinction represents a new learning process that eventually leads to the formation of extinction memories. Understanding the neural basis of fear extinction has considerable clinical significance as deficits in extinction learning are the hallmark of human anxiety disorders. In recent years, the dopamine (DA) system has emerged as one of the key regulators of fear extinction. In this review article, we highlight recent advances that have demonstrated the crucial role DA plays in mediating different phases of fear extinction. Emerging concepts and outstanding questions for future research are also discussed.

Learning to associate stimuli and situations with danger or safety is critical for survival and adaptive behavior. In the laboratory, these forms of learning are typically studied using Pavlovian fear conditioning and extinction. Fear conditioning is an example of associative learning in which an initially neutral stimulus such as a tone (conditioned stimulus, CS) comes to elicit fear responses after being paired in time with an aversive outcome such as a foot shock (unconditioned stimulus, US). Once the CS-US association is learned, subsequently repeated presentations of the CS in the absence of the aversive US result in a gradual decrease in conditioned fear responses, a process known as fear extinction. In the last decades, fear extinction has attracted much interest in part because deficits in extinction learning are thought to underlie human anxiety disorders, such as post-traumatic stress disorder (PTSD) and phobias (Graham and Milad, 2011; Pitman et al., 2012; Craske et al.

In recent decades, extracellular vesicles have been recognized as “very important particles” (VIPs) associated with aging and age-related disease. During the 1980s, researchers discovered that these vesicle particles released by cells were not debris but signaling molecules carrying cargoes that play key roles in physiological processes and physiopathological modulation. Following the International Society for Extracellular Vesicles (ISEV) recommendation, different vesicle particles (e.g., exosomes, microvesicles, oncosomes) have been named globally extracellular vesicles. These vesicles are essential to maintain body homeostasis owing to their essential and evolutionarily conserved role in cellular communication and interaction with different tissues. Furthermore, recent studies have shown the role of extracellular vesicles in aging and age-associated diseases.

A new proposal suggests using stem cell-derived ‘minibrains’ to create brand-new biocomputers. Such ‘organoid computers’ could be far off, but ethical questions abound.