New computational tool improves gene identification

Like finding a needle in a haystack, identifying genes that are involved in particular diseases can be an arduous and time consuming process. Looking to improve this process, a team led by researchers at Baylor College of Medicine has developed a new bioinformatics tool that analyzes CRISPR pooled screen data and identifies candidates for potentially relevant genes with greater sensitivity […]

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Genetic analysis has potential to transform diagnosis and treatment of adults with liver disease of unknown cause

Adults suffering from liver disease of unknown cause represent an understudied and underserved patient population. A new study reported in the Journal of Hepatology, published by Elsevier, supports the incorporation of whole-exome sequencing (WES) in the diagnosis and management of adults suffering from unexplained liver disease and underscores its value in developing an understanding of which liver phenotypes of unknown […]

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Ovarian cancer patients undertested for mutations that could guide clinical care

Fewer than a quarter of breast cancer patients and a third of ovarian cancer patients diagnosed between 2013 and 2014 in two states underwent genetic testing for cancer-associated mutations, according to a study by researchers at the Stanford University School of Medicine and several other organizations. The findings indicate that substantial gaps exist between national guidelines for testing and actual […]

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Patients with or without cancer use different forms of marijuana, study finds

People with and without cancer are more likely, over time, to use a more potent form of medical marijuana with increasingly higher amounts of tetrahydrocannabinol (THC), a new study shows. In a report publishing in the Journal of Palliative Medicine on March 26, researchers say that cancer patients were more likely to favor forms of medical marijuana with higher amounts […]

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Research implicates causative genes in osteoporosis, suggesting new targets for future therapy: Innovative functional genomics tools likely to aid discovery in other genetic diseases

Scientists have harnessed powerful data analysis tools and three-dimensional studies of genomic geography to implicate new risk genes for osteoporosis, the chronic bone-weakening condition that affects millions of people. Knowing the causative genes may later open the door to more effective treatments. “Identifying a disease’s actual underlying cause often helps to steer us toward correct, targeted treatments,” said study leader […]

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Potential cystic fibrosis treatment uses ‘molecular prosthetic’ for missing lung protein

An approved drug normally used to treat fungal infections could also do the job of a protein channel that is missing in the lungs of people with cystic fibrosis, operating as a prosthesis on the molecular scale, says new research from the University of Illinois and the University of Iowa. Cystic fibrosis is a lifelong disease that makes patients vulnerable […]

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Therapy could improve and prolong sight in those suffering vision loss: Damping noise in hyperactive eye cells allows details to emerge

Millions of Americans are progressively losing their sight as cells in their eyes deteriorate, but a new therapy developed by researchers at the University of California, Berkeley, could help prolong useful vision and delay total blindness. The treatment — involving either a drug or gene therapy — works by reducing the noise generated by nerve cells in the eye, which […]

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Deep brain stimulation sites for OCD target distinct symptoms: Two DBS sites equally reduced OCD symptoms but improved distinct symptoms

Deep brain stimulation (DBS) reduces symptoms of severe obsessive-compulsive disorder (OCD) during stimulation of either the ventral capsule (VC) or anteromedial subthalamic nucleus (amSTN), according to a study in Biological Psychiatry. DBS of the regions reduced OCD symptoms to a similar extent, but produced distinct effects on specific symptoms — VC stimulation drastically improved mood, whereas amSTN stimulation in the […]

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Happy in marriage? Genetics may play a role

People fall in love for many reasons — similar interests, physical attraction, and shared values among them. But if they marry and stay together, their long-term happiness may depend on their individual genes or those of their spouse, says a new study led by Yale School of Public Health researchers. Published in the journal PLOS ONE, the study examined the […]

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Cancer genes’ age and function strongly influence their mutational status

Researchers have provided new insight on why some genes that formed during the evolution of the earliest animals on earth are particularly impaired (or dysregulated) by specific mechanisms during cancer development. Their study, published today in eLife, suggests investigating the implications of this dysregulation for the entire function of cancer cells may provide useful insights for the development of potential […]

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