Tag: Genomic medicine

Neurology

Maybe Memorizing the Krebs Cycle Was Worthwhile After All

Newsemia
Mitochondrial disorders are often difficult to diagnose and treat due to their multisystem nature. As scientists better understand mitochondrial function, effective treatments are beginning to...
Neurology

Better Sleep Linked to Reduced CVD, Stroke Risk

Newsemia
Using genetic data on almost 400,000 individuals, a new study shows even those at high genetic risk for CVD or stroke benefit from healthy sleep...
Neurology

SUNFISH: Risdiplam Meets Primary Endpoint in SMA

Newsemia
Risdiplam, an oral investigational agent designed to increase and sustain SMN protein levels of patients with spinal muscular atrophy (SMA), met the primary endpoint in...
Biology

Rapid antigen diversification through mitotic recombination in the human malaria parasite <i>Plasmodium falciparum</i>

Newsemia
by Xu Zhang, Noah Alexander, Irina Leonardi, Christopher Mason, Laura A. Kirkman, Kirk W. Deitsch Malaria parasites possess the remarkable ability to maintain chronic infections...
Neurology

Cord Blood Test May Flag Neonatal Hypoxia Risk

Newsemia
Umbilical cord blood microRNA may aid in the detection of impending hypoxic-ischemic brain injury in newborns, new research suggests. Medscape Medical News Source link...
Biology

Enabling precision medicine via standard communication of HTS provenance, analysis, and results

Newsemia
by Gil Alterovitz, Dennis Dean, Carole Goble, Michael R. Crusoe, Stian Soiland-Reyes, Amanda Bell, Anais Hayes, Anita Suresh, Anjan Purkayastha, Charles H. King, Dan Taylor,...
Neurology

Periodic Paralysis: Shedding Light on a Rare Neurologic Disorder

Newsemia
This infrequent neuromuscular disorder is commonly mistaken for a multitude of other disorders, but diagnosis can be confirmed with key clues and genetic testing. Medscape...
Neurology

Prenatal Fluoride Exposure Linked to ADHD in Kids

Newsemia
To think that water fluoridation is unsafe has long been considered a fringe belief, but recent research suggests cause for concern. Medscape Medical News Source...
Neurology

Brain Injury an Independent Risk Factor for ADHD in Kids

Newsemia
Are children who experience a mild TBI at higher risk for ADHD based on genetic predisposition, their brain injury, or both? New research aims to...
Neurology

WGA Speeds Diagnosis of Devastating Seizure Disorder in Kids

Newsemia
Whole-genome analysis looks more clinically and economically feasible for diagnosing newborns with a rare, but devastating, epilepsy syndrome, new research shows. Medscape Medical News Source...
Latest News

Best Practices for Participant and Stakeholder Engagement in the All of Us Research Program

Newsemia
Report identifies six best practices for engagement in the All of Us program: expanding community partnerships, fostering a spectrum of leadership, engaging a mix of...
Neurology

First Biomarker Evidence Autism Is Linked to DDT

Newsemia
A large study provides the first biomarker evidence that maternal exposure to the pesticide DDT may raise the risk for autism in offspring. News Alerts...
Neurology

FDA OKs Patisiran (Onpattro) for Polyneuropathy in hAATR

Newsemia
Patisiran is the first FDA-approved treatment for polyneuropathy caused by hATTR and the first RNA-based therapy to treat a rare disease. FDA Approvals Source link...
Latest News

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

Newsemia
Study discusses a translational research framework that features collaboration among multiple health systems with already available genome sequencing data, intervention information, and clinical outcomes. Source...

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