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An artificial intelligence (AI)-based technology rapidly diagnoses rare disorders in critically ill children with high accuracy, according to a report by scientists from University of Utah Health and Fabric Genomics, collaborators on a study led by Rady Children’s Hospital in San Diego. The benchmark finding, published in Genomic Medicine, foreshadows the next phase of medicine, where technology helps clinicians quickly determine the root cause of disease so they can give patients the right treatment sooner.

“This study is an exciting milestone demonstrating how rapid insights from AI-powered decision support technologies have the potential to significantly improve patient care,” says Mark Yandell, Ph.D., co-corresponding author on the paper. Yandell is a professor of human genetics and Edna Benning Presidential Endowed Chair at U of U Health, and a founding scientific advisor to Fabric.

Worldwide, about seven million infants are born with serious genetic disorders each year. For these children, life usually begins in intensive care. A handful of NICUs in the U.S., including at U of U Health, are now searching for genetic causes of disease by reading, or sequencing, the three billion DNA letters that make up the human genome. While it takes hours to sequence the whole genome, it can take days or weeks of computational and manual analysis to diagnose the illness.

Summary: Researchers have linked Fragile X and SHANK3 deletion syndrome, two disorders associated with autism, to specific microscopic walking patterns.

Source: Rutgers.

Rutgers researchers have linked the genetic disorders Fragile X and SHANK3 deletion syndrome – both linked to autism and health problems – to walking patterns by examining the microscopic movements of those wearing motion-sensored sneakers.

A team of researchers at UT Southwestern Medical Center’s Touchstone Diabetes Center have successfully used CRISPR gene editing to turn fat cells normally used for storage into energy-burning cells.

“It’s like flipping a switch. We removed the ‘brake’ on the energy burning pathway in by engineering a mutation that disrupts the interaction between a single pair of proteins,” said study leader Rana Gupta, Ph.D., Associate Professor of Internal Medicine. “Our research demonstrates that releasing this brake in fat cells can potentially help make existing much more effective.”

The research at UT Southwestern, ranked as one of the nation’s top 25 hospitals for diabetes and endocrinology care, is published in Genes and Development and supported by the National Institutes of Health.

Extreme heat can kill or cause long-term health problems – but for many unendurable temperatures are the new normal.


Extreme heat can also cause “leaky gut”, in which toxins and pathogenic bacteria to seep in to the blood, increasing the likelihood of infections, says Walter. It is almost possible to develop a kind of sepsis infection by being hot, he says. “Gut permeability seems to be a big, big problem.”

In a world-first, US surgeons have successfully transferred a kidney taken from a pig into a braindead human patient, in a major step towards using animal organs in human transplantations.

The team at NYU Langone Health performed the operation on a woman who was recently declared braindead, with the permission of her family. The sole object of the study, according to the lead surgeon Dr Robert Montgomery, was “to provide the first evidence that what appears to be promising results from non-human primates will translate into a good outcome in a human.”

One major obstacle in making xenotransplantation possible has been the rejection of organs by hosts. To overcome this, the team used an organ from a pig that had been genetically engineered in order to remove a sugar molecule known to play a significant role in rejection. The surgeons attached the kidney to large blood vessels outside of the recipient and monitored it for two days.

Integrated And Cross-Disciplinary Research Focused on Diagnosing, Treating And Curing Cancers — Dr. Antonio Giordano MD, PhD, President & Founder, Sbarro Health Research Organization.


Dr. Antonio Giordano, MD, Ph.D., (https://www.drantoniogiordano.com/) is President and Founder of the Sbarro Health Research Organization (https://www.shro.org/), which conducts research to diagnose, treat and cure cancer, but also has diversified into research beyond oncology, into the areas of cardiovascular disease, diabetes and other chronic illnesses.

Dr. Giordano is also a Professor of Molecular Biology at Temple University in Philadelphia, a ‘Chiara fama’ Professor in the Department of Pathology & Oncology at the University of Siena, Italy, and Director of the Sbarro Institute for Cancer Research and Molecular Medicine, and the Center for Biotechnology, at Temple’s College of Science & Technology.

In his research throughout the years, Dr. Giordano has identified numerous tumor suppressor genes, including Rb2/p130, which has been found to be active in lung, endometrial, brain, breast, liver and ovarian cancers, as well as interesting synergistic effects of gamma radiation in combination with this gene, accelerating the death of tumor cells.

Dr. Giordano went on to discover Cyclin A, Cdk9 (which is known to play critical roles in HIV transcriptions, inception of tumors, and cell differentiation), and Cdk10. Dr. Giordano also developed patented technologies for diagnosing cancer.

Dr. Giordano has published over 400 papers on gene therapy, cell cycle, genetics of cancer, and epidemiology.

In 2,011 Dr. Giordano and his team uncovered anti-tumor agents that might be effective in the treatment of mesothelioma, a cancer caused by prolonged asbestos exposure, by inducing cell death without harming healthy cells.

Dr. Giordano has been involved with many other fascinating programs, including digital health work to see if watching a computer animated avatar could assist women to lose weight, as well as analyzing the environmental relationship among toxic dumping and cancer growth, birth defects, and CNS disorders, due to the Camorra (the Neapolitan Mafia) illegally disposing of toxic waste.

While the pandemic is still raging, the chaos of the past 18 months has calmed a bit, and the dust is starting to settle. Now the time has come for healthcare CIOs and other health IT leaders to look forward and plan their IT investments – shaped, in no small part, by the lessons of the recent past.

Artificial intelligence is transforming industries around the world — and health care is no exception. A recent Mayo Clinic study found that AI-enhanced electrocardiograms (ECGs) have the potential to save lives by speeding diagnosis and treatment in patients with heart failure who are seen in the emergency room.

A dedicated practitioner, Adedinsewo is a Mayo Clinic Florida Women’s Health Scholar and director of research for the Cardiovascular Disease Fellowship program. Her clinical research interests include cardiovascular disease prevention, women’s heart health, cardiovascular health disparities, and the use of digital tools in cardiovascular disease management.

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Exercise leaves muscles riddled with microscopic tears, so after a rigorous workout, the control centers of muscle cells — called nuclei — scoot toward these tiny injuries to help patch them up, scientists recently discovered.

In the new study, published Oct. 14 in the journal Science, researchers uncovered a previously unknown repair mechanism that kicks in after a run on the treadmill. Striking images show how, shortly after the exercise concludes, nuclei scuttle toward tears in the muscle fibers and issue commands for new proteins to be built, in order to seal the wounds. That same process likely unfolds in your own cells in the hours after you return home from the gym.

AI can detect signals that are informative about mental health from questionnaires and brain scans.

A study published today by an interdisciplinary collaboration, directed by Denis Engemann from Inria, demonstrates that machine learning from large population cohorts can yield “proxy measures” for brain-related health issues without the need for a specialist’s assessment. The researchers took advantage of the UK Biobank, one of the world’s largest and most comprehensive biomedical databases, that contains detailed and secure health-related data on the UK population. This work is published in the open access journal GigaScience.

Mental health issues have been increasing worldwide, with the WHO determining that there has been a 13% increase in mental health conditions and substance abuse disorders between 2007 and 2017. The burden these diseases place on society is extensive, negatively impacting nearly every area of life: school, work, family, friends, and community engagement. Among the many issues impeding the ability of society to address these disorders is that diagnoses of such health issues requires specialists; the availability of which ranges drastically across the globe. The development of machine learning methodology for the purposes of facilitating mental-health assessments could provide a much needed additional means to help detect, prevent and treat such health issues.