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Published on December 21, 2021
A study led by New York University suggests genetic variants implicated in medical conditions such as abnormal heart rhythms and seizures could be at least partly responsible for a significant percentage of sudden unexplained deaths in children between the age of 1 and 18 years. The researchers found that genetic…
Published on December 1, 2021
Growing evidence that precision medicine would save lives is what prompted each of the health systems covered in this article to adopt an aggressive program early. “This means improving care for our patients,” says Konstantinos N. Lazaridis, M.D., of Mayo Clinic. “It gives us more specific information about what causes…
Published on November 2, 2021
Brain data precision medicine company Rune Labs has announced a collaboration with Medical device company Medtronic to better understand the data showing the effects of neurostimulation and how they can be used to provide better, more personalized patient care. Under the terms of the collaborations, Rune will leverage its software…
Published on October 18, 2021
Results from a new University of Pennsylvania study carried out in a mouse model suggest that childhood onset, neurodevelopmental CDKL5 deficiency disorder (CDD) could be targeted in adulthood in the future. CDD, which occurs in around 1 in 42,000 live births, is caused by mutations in the CDKL5 gene and…
Published on October 5, 2021
For patients with long-term, treatment-resistant depression, a new precision therapeutic approach developed by researchers at at the University of California San Francisco (UCSF) could be transformative in alleviating their symptoms. Findings of their work in deep brain stimulation were published recently in the journal Nature Medicine. “This study points the…
Published on July 9, 2021
Researchers based at Washington University School of Medicine have created a genomic atlas of proteins found in the brain of Alzheimer’s disease patients and found new potential drug targets for treating Alzheimer’s, Parkinson’s disease, amyotrophic lateral sclerosis (ALS) and stroke. The team says they have analyzed existing drug databases and…
Published on April 27, 2021
Early-stage research from Texas Tech University Health Sciences Center suggests exposure to SARS-CoV-2 infection can result in long term changes to gene expression in human bronchial cells, which could be behind the many ‘long-haul’ COVID-19 cases now being observed. Now we are more than a year into the pandemic there…
Published on April 19, 2021
A team of European and Japanese scientists, led by Mariko Taniguchi-Ikeda, Ph.D., from Fujita Health University Hospital, have described a set of seven patients with a novel mitochondrial disorder caused by biallelic variants in ligase III (LIG3)—a ligase involved in DNA replication and repair. LG3 plays a role in mitochondrial…
Published on April 9, 2021
Retirement typically means more time for traveling, hobbies, and relaxation. For Stan Crooke, M.D., Ph.D., it means something very different. Crooke, the founder and executive chairman of Ionis Pharmaceuticals, having served as CEO for more than 30 years, will officially retire this year. Instead of hitting the golf course, he…
Published on February 8, 2021
Twenty years after the publication of the first draft of the human genome, our views have changed on the cipher for humanity, the identity of our ancestors, the differences among us, and the genomic nuances that can govern disease. Much has been deciphered and plenty remains. It is an opportune…
Published on December 24, 2020
A rare form of dementia, called leukoencephalopathy, that has been linked to mutations in the CSF-1R gene may help inform the development of therapeutics for Alzheimer’s disease. These findings are reported in the article, “Attenuated CSF-1R signaling drives cerebrovascular pathology,” published in EMBO Molecular Medicine. Commenting on the clinical significance of…
Published on November 11, 2020
A discovery of the genetic driver of rare form of neonatal diabetes revealed a biological pathway that is fundamental to insulin production by pancreatic β cells, and which could boost research into new treatments for more common forms of diabetes. An international research team led by scientists at the University…
Published on October 14, 2020
Research led by the Wellcome Sanger Institute near Cambridge has identified 28 new genes that are associated with developmental disorders in children, which the team thinks could lead to new diagnoses for around 500 families. Around the world there are approximately 400,000 babies born each year with rare developmental disorders…
Published on July 24, 2020
Content sponsored by Clinical genomics Clinicians today are increasingly turning to clinical genomics applications to help identify and diagnose medical conditions at all stages of a patient’s life. Before conception, carrier screening can identify recessive genetic diseases in prospective parents, and newborn screening for common metabolic disorders and inherited diseases…
Published on May 21, 2020
The results of a small-scale study in human volunteers have shown how specifically low-carb, high-fat ketogenic diets (KDs)—which are widely publicized for their purported health and weight loss-promoting benefits—have a dramatic impact on the gut microbiome that differs to that of high-fat diets (HFDs). Additional studies in mice by the…