Lifeboat Foundation

Many of the genetic mutations that directly cause a condition, such as those responsible for cystic fibrosis and sickle-cell disease, tend to change the amino acid sequence of the protein that they encode. But researchers have observed only a few million of these single-letter ‘missense mutations’. Of the more than 70 million such mutations that can occur in the human genome, only a sliver have been linked conclusively to disease, and most seem to have no ill effect on health.

So when researchers and doctors find a missense mutation that they’ve never seen before, it can be difficult to know what to make of it. To help interpret such ‘variants of unknown significance’, researchers have developed dozens of computational tools that can predict whether a variant is likely to cause disease. AlphaMissense incorporates existing approaches to the problem, which are increasingly being addressed with machine learning.

An international research team led by scientists in the Center for Genetic Epidemiology at the Keck School of Medicine of USC and USC Norris Comprehensive Cancer Center has singled out mutations in 11 genes that are associated with aggressive forms of prostate cancer.

These findings come from the largest-scale prostate cancer study ever exploring the exome—that is, the key sections of the genetic code that contain the instructions to make proteins. The scientists analyzed samples from about 17,500 prostate cancer patients.

Today, oncologists customize care for certain individuals with aggressive prostate cancer with help from genetic tests. The results can inform treatment, as one class of targeted therapies has proved effective against some inherited prostate cancers. Test findings also can lead to genetic screening among patients’ family members, so they have the chance to take measures that reduce risk and to work with their doctors to be more vigilant in early detection.

The types of cancer that occur in children often are different from those in adults. Childhood cancers usually are not linked to lifestyle or environmental risk factors, as is often the case in adults. Nonetheless, cancer is the second-leading cause of death in children 1 to 14 years old, according to the American Cancer Society. Nearly 10,000 children in the U.S. under the age of 15 will be diagnosed with cancer in 2023, and about 1,000 children are expected to die of the disease.

September is Childhood Cancer Awareness Month, which makes this a good time to learn about three of the most common types of cancer in children: acute lymphocytic leukemia, neuroblastoma and pediatric brain tumors.

Acute lymphocytic leukemia is a cancer of the blood and bone marrow. It’s the most common type of cancer in children, and treatments result in a good chance for a cure. Acute lymphocytic leukemia also can occur in adults, though the chance of a cure is greatly reduced.

‘They’re not announcing like, ‘We have created a model that does a particular thing.’ Instead, they’re saying ‘We are planning to create a resource that is going to be available for biologists to create new models,’ Carpenter said.

The Chan Zuckerberg Initiative, the couple’s LLC, told The Register that they plan to have their product running by 2024. The company also declined to tell the Register how much it’ll have to spend to make its product.

It could be a hefty bill, considering that the computer parts it wants to use are in high demand and low supply, The Register reported.

Pediatric specialists at Lucile Packard Children’s Hospital Stanford are implementing innovative uses for immersive virtual reality (VR) and augmented reality (AR) technologies to advance patient care and improve the patient experience.

Through the hospital’s CHARIOT program, Packard Children’s is one of the only hospitals in the world to have VR available on every unit to help engage and distract patients undergoing a range of hospital procedures. Within the Betty Irene Moore Children’s Heart Center, three unique VR projects are influencing medical education for congenital heart defects, preparing patients for procedures and aiding surgeons in the operating room. And for patients and providers looking to learn more about some of the therapies offered within our Fetal and Pregnancy Health Program, a new VR simulation helps them understand the treatments at a much closer level.

Discovering And Developing Medicines To Keep You Biologically Young — Dr. Marco Quarta, Ph.D. — Co-Founder and CEO, Rubedo Life Sciences; CEO, Phaedon Institute.

Dr. Marco Quarta, Ph.D. is Co-Founder and CEO of Rubedo Life Sciences (https://www.rubedolife.com/), a biopharmaceutical company developing a broad portfolio of innovative therapies engineered to target cells which drive chronic age-related diseases. The company’s proprietary ALEMBIC™ drug discovery platform has engineered novel first-in-class small molecules designed to selectively target senescent cells, which play a key role in the progression of pulmonary, dermatological, oncological, neurodegenerative, fibrotic and other chronic disorders.

Continue reading “Dr. Marco Quarta, Ph.D. — Co-Founder and CEO — Rubedo Life Sciences; CEO, The Phaedon Institute” »

Anencephaly is a rare birth defect in which a baby is born without most of its brain. The disease largely can be prevented with folic acid.

Immunotherapy, which uses the body’s own immune system to fight cancer, is an effective treatment option, yet many patients do not respond to it. Thus, cancer researchers are seeking new ways to optimize immunotherapy so that it is more effective for more people.

Now, Salk Institute scientists have found that manipulating an early step in energy production in mitochondria—the cell’s powerhouses—reduces melanoma tumor growth and enhances the immune response in mice.

The study, published in Science on September 21, 2023, revealed that when electrons take one of two initial routes through mitochondria, genes and proteins become activated that are needed for immune cells to recognize and kill tumor cells.

What does it take to bring life-changing medical robotic devices to reality? This is a question Dr. Gregory Fischer, founder and CEO of AiM Medical Robotics, explored in his keynote “From Concept to Commercialization: It’s not Brain Surgery, or is it?” at BIOMEDevice Boston, MA. As a researcher, professor, and lead investigator supported by federal government grants, director of a state-funded medtech accelerator, and founder of multiple medical device companies, Fischer has a unique perspective on conceptualizing, refining, and commercializing medical devices, as well as the challenges that come with each step.

Focusing on neurosurgery, he highlighted specific challenges clinicians face during procedures including an inability to leverage real-time intraoperative MR imaging for precision — surgeons must transfer a patient mid-surgery to an MRI in a separate room and sometimes even a separate building within the hospital complex — resulting in inefficient workflow and interruptions in sterility and anesthesia during transfers. Additionally, he mentioned limited compatibility with various MRI scanners, and an increased risk of human errors because of complex manual processes.

Integrating robotic assistance, he said, enhances the reachable target area and improves dexterity and precision of motion during such difficult procedures such as neurosurgery, adds enhanced feedback and virtual fixtures, reduces procedure time, and avoids ergonomic issues. An increase in intervention accuracy through inherent integration with image guidance tools, and improved diagnostic and therapeutic outcomes are also advantages of robotic assistance, according to Fischer.