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Category: genetics – Page 58

FunMap reveals a functional network of genes and proteins in human cancer

Large-scale protein and gene profiling have massively expanded the landscape of cancer-associated proteins and gene mutations, but it has been difficult to discern whether they play an active role in the disease or are innocent bystanders. In a study published in Nature Cancer, researchers at Baylor College of Medicine revealed a powerful and unbiased machine learning-based approach called FunMap for assessing the role of cancer-associated mutations and understudied proteins, with broad implications for advancing cancer biology and informing therapeutic strategies.

“Gaining functional information on the genes and proteins associated with cancer is an important step toward better understanding the disease and identifying potential therapeutic targets,” said corresponding author Dr. Bing Zhang, professor of molecular and human genetics and part of the Lester and Sue Smith Breast Center at Baylor.

“Our approach to gain functional insights into these genes and proteins involved using machine learning to develop a network mapping their functional relationships,” said Zhang, member of Baylor’s Dan L Duncan Comprehensive Cancer Center and a McNair Scholar. “It’s like, I may not know anything about you, but if I know your LinkedIn connections, I can infer what you do.”

Rewriting Evolution: Study Shows Neanderthals and Humans Were Not the Same Species

A study suggests that by the time H. sapiens expanded, the differentiation between the two species had progressed to the extent that they were distinct and recognizable as separate species.

A recent study conducted by researchers from London’s Natural History Museum and the Institute of Philosophy at KU Leuven has strengthened the argument that Neanderthals and modern humans (Homo sapiens) should be classified as distinct species to more accurately trace our evolutionary history.

Different researchers have different definitions as to what classifies as a species. It is undisputed that H. sapiens and Neanderthals originate from the same parental species, however studies into Neanderthal genetics and evolution have reignited the debate over whether they should be classed as separate from H. sapiens or rather a subspecies (H. sapiens neanderthalensis).

New Insights into Brain Mechanisms Underlying Empathy

A specific brain mechanism modulates how animals respond empathetically to others’ emotions. This is the latest finding from the research unit Genetics of Cognition, led by Francesco Papaleo, Principal Investigator at the Istituto Italiano di Tecnologia (IIT – Italian Institute of Technology) and affiliated with IRCCS Ospedale Policlinico San Martino in Genova. The study, recently published in Nature Neuroscience, provides new insights into psychiatric conditions where this socio-cognitive skill is impaired, such as post-traumatic stress disorder (PTSD), autism, and schizophrenia.

Psychological studies have shown that the way humans respond to others’ emotions is strongly influenced by their own past emotional experiences. When a similar emotional situation—such as a past stressful event—is observed in another person, we can react in two different ways. On one hand, it may generate empathy, enhancing the ability to understand others’ problems and increasing sensitivity to others altered emotions. On the other hand, it may induce self-distress resulting into an avoidance towards others.

The research group at IIT has demonstrated that a similar phenomenon also occurs in animals: recalling a negative experience strongly influences how an individual responds to another who is experiencing that same altered emotional state. More specifically, animals exhibit different reactions only if the negative event they experienced in the past is identical to the one they observe in others. This indicates that even animals can specifically recognize an emotional state and react accordingly even without directly seeing the triggering stimuli.

Asthma more prevalent among children with a rare genetic disorder, study finds

Indiana University School of Medicine researchers have uncovered compelling evidence that children with primary ciliary dyskinesia (PCD), a rare genetic disorder affecting airway function, are significantly more likely than children without PCD to have asthma. The findings, recently published in a JAMA Network Open research letter, highlight the importance of routine asthma screening for children with PCD and suggest some children with asthma may have undiagnosed PCD.

An estimated 1 in 10,000 to 30,000 people in the United States have PCD. It affects the microscopic, hair-like structures called cilia that line the airways and help clear mucus, leading to an increased risk of serious breathing problems and infections in people with the inherited condition.

“The connection between PCD and has not previously received much attention,” said Benjamin Gaston, MD, the Billie Lou Wood Professor of Pediatrics at the IU School of Medicine, who co-led the study. “Our data analysis revealed an undeniable link, showing children with PCD were 22 times more likely to have asthma compared to children without PCD characteristics.”

B-Amyloid Protects The Brain Against Herpes Virus Infection: Amy Proal, PhD

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Thousands of Undiscovered Genes May Be Hidden in DNA ‘Dark Matter’

The preprint, not yet peer-reviewed, is the latest from a global consortium that hunts down potential new genes. Ever since the Human Genome Project completed its first draft at the turn of the century, scientists have tried to decipher the genetic book of life. Buried within the four genetic letters—A, T, C, and G—and the proteins they encode is a wealth of information that could help tackle our most frustrating medical foes, such as cancer.

The Human Genome Project’s initial findings came as a surprise. Scientists found less than 30,000 genes that build our bodies and keep them running—roughly a third of that previously predicted. Now, roughly 20 years later, as the technologies that sequence our DNA or map proteins have become increasingly sophisticated, scientists are asking: “What have we missed?”

The new study filled the gap by digging into relatively unexplored portions of the genome. Called “non-coding,” these parts haven’t yet been linked to any proteins. Combining several existing datasets, the team zeroed in on thousands of potential new genes that make roughly 3,000 miniproteins.

Common Viruses May Trigger Autoimmune Diseases

Researchers think certain common viruses may trigger some autoimmune conditions—alone or in concert with other factors. A recent Office of Autoimmune Disease Research (OADR)-Office of Research on Women’s Health Science Talks series focused on understanding the triggers of autoimmunity and advancing research.

Almost 80 percent of people living with an autoimmune disease are women. It’s estimated there are 80–120 autoimmune diseases. These chronic and often debilitating diseases have no known cures. Some combination of genetics, immune regulation and the environment work together to form an “endotype” for each autoimmune disease patient, explained Dr. Judith James of the Oklahoma Medical Research Foundation.

Her presentation focused on lupus, or systemic lupus erythematosus (SLE), which disproportionately affects women. Nine women are diagnosed with SLE for every male. In SLE, the immune system attacks healthy tissue, causing inflammation and occasionally permanent damage.

Major trial shows prolonged benefit of olaparib in early-stage inherited breast cancer

One year of treatment with the targeted drug olaparib improves long-term survival in women with high-risk, early-stage breast cancer with mutations in BRCA1 or BRCA2 genes, new results from a major clinical trial show.

Ten years since the first patient was recruited, new findings from the phase III OlympiA trial – presented at San Antonio Breast Cancer Symposium (SABCS) 2024 – show that adding olaparib to standard treatment cuts the risk of cancer coming back by 35 per cent, and the risk of women dying by 28 per cent.

After six years, 87.5 per cent of patients who were treated with the drug were still alive compared with 83.2 per cent of those who were given the placebo pills.

Professor Andrew Tutt at The Institute of Cancer Research, London, and King’s College London is the global lead investigator and Chair of the Steering Committee for the OlympiA study, and was also involved in early laboratory research on PARP inhibitors such as olaparib, and their subsequent clinical development. The Breast International Group (BIG) coordinated the international OlympiA study, involving 671 study locations, globally across multiple partners. BIG coordinated the trial’s UK sites through the ICR Clinical Trials and Statistics Unit (ICR-CTSU).