Treating a rare genetic disorder that causes colon cancer in children

A University of Houston pharmaceutical scientist is developing a new drug which could bring relief to children suffering with Familial Adenomatous Polyposis (FAP), a rare genetic disorder characterized by hundreds—if not thousands—of colorectal polyps. This hereditary cancer predisposition syndrome occurs in 3-per-100,000 live births and, if left untreated, causes colorectal cancer in patients nearly 100 percent of the time. Prior […]

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Genetic ‘whodunnit’ for cancer gene solved

Long thought to suppress cancer by slowing cellular metabolism, the protein complex AMPK also seemed to help some tumors grow, confounding researchers. Now, Salk Institute researchers have solved the long-standing mystery around why AMPK can both hinder and help cancer. The lab of Salk Professor Reuben Shaw showed that late-stage cancers can trigger AMPK’s cellular recycling signal to cannibalize pieces […]

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Genetic susceptibility to lower vitamin D levels and calcium intake not linked to fracture

Having a genetic predisposition to lower vitamin D levels and calcium intake is not associated with an increased risk of osteoporotic fracture, conclude researchers in The BMJ today. Their findings add to the ongoing debate over the benefits for the general population of vitamin D supplementation, which is recommended by clinical guidelines to prevent fractures. The findings also back recent […]

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Men and women have different genetic risk factors for developing brain cancer

Glioma is the most common type of primary malignant brain tumor in the United States; glioblastoma being the most common type of glioma in adults. While sex differences in the incidence and survival rates of glioma were known, researchers had not investigated whether genetic differences based on sex could cast light on potential differences in the risk profile of glioma […]

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Diagnostics of genetic cardiac diseases using stem cell-derived cardiomyocytes

A new study by Professors Martti Juhola and Katriina Aalto-Setälä of the University of Tampere in Finland demonstrates that with the use of artificial intelligence and machine learning, it is possible not only to accurately sort sick cardiac cell cultures from healthy ones, but also to differentiate between genetic cardiac diseases. iPSC-derived cardiomyocytes can be derived from a blood sample […]

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Genetic discovery will help clinicians identify aggressive versus benign bone tumors

The first genetic marker for the bone tumour, osteoblastoma, has been discovered by scientists at the Wellcome Sanger Institute and their collaborators. Whole-genome and transcriptome sequencing of human bone tumours revealed that a genetic change that affects the transcription factor, FOS, is a hallmark mutation of osteoblastoma. The results, published in Nature Communications, will help clinicians correctly distinguish benign osteoblastoma […]

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Scientists help identify genetic markers for prostate cancer in global DNA download

An international team of researchers including USC scientists has found scores of new genetic markers in DNA code that increase prostate cancer risk—powerful knowledge likely to prove useful to detect and prevent the disease. Focusing on DNA of more than 140,000 men worldwide, researchers were able to identify 63 new genetic markers associated with prostate cancer risk. That greatly increases […]

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