Chance Most “Pathogenic” Variants Will Actually Cause Disease Is Low
It can be hard to give an accurate prediction of how likely you are to develop disease if you carry a so-called pathogenic genetic variant. Researchers at Icahn Mount Sinai showed the risk for developing disease from such variants is actually less than 10%.
Pfizer and OPKO Suffer FDA Setback with Pediatric Growth Hormone Deficiency Therapy
Complete letter of response from FDA sets back Pfizer and OPKO Health's hopes for imminent U.S. market approval for their pediatric growth hormone deficiency treatment somatrogon.
Scientists Develop Safer Gene Editing Drug Delivery System
The particles allow for the safer delivery of gene-editing therapies than other methods that can lead to prolonged expression in transduced cells—which increases the frequency of off-target editing—and viral vector integration into the genome of transduced cells, both of which can lead to oncogenesis.
Penn and CBM Ink Potential $100M Gene Therapy Manufacturing Deal
The University of Pennsylvania’s Gene Therapy Program (GTP) has signed a collaboration agreement with contract manufacturer The Center for Breakthrough Medicines (CBM) worth an estimated $75-$100 million.
High Speed Cell Sorter Allows Genome-Scale Studies of Complex Phenotypes
Isolating individual cells with complex phenotypes is a technological challenge, now researchers present a high-speed cell sorter that uses fluorescence imaging to enable genome-scale studies of complex phenotypes.
Immunotherapy Can Induce Remission in Young Children with Peanut Allergy
Landmark NIH allergy study shows immunotherapy successfully desensitizes 71% of young children with severe peanut allergy, with 21% also achieving remission.
NIH Earmarks $170M for the Nutrition for Precision Health Program
The new program, a part of the All of US Research Program, will seek to develop algorithms to predict responses to each individual's diet. The effort will recruit 10,000 people from diverse backgrounds as it looks to create tools to provide individuals with personal dietary recommendations.
Gene Therapy for Severe Form of Epilepsy Shows Promise
Scientists from the University of Virginia School of Medicine describe in a study involving mouse models how a newly developed gene therapy can treat Dravet syndrome, a severe form of epilepsy, and potentially prolong survival for people with the condition.
Tau Interactome Map Suggests How Mutated Brain Protein Spreads
Researchers at the Buck Institute and collaborators have mapped the tau interactome using proteomics. They also uncovered new findings about how the diseased protein spreads in the brain and how it impacts mitochondria.
U.K.’s Our Future Health Aims to Transform Disease Prevention, Detection, Treatment
The program seeks to enroll five million participants as it looks to develop a broad view of the health of the country’s population while developing new ways to prevent and treat diseases and health conditions such as cancer, Alzheimer’s disease, heart disease, arthritis, diabetes, and stroke.
Whole Genome Screening for Sick Newborns: Equity Now
The NICUSeq study group has recently reported on their randomized multisite time-delayed trial to test the clinical utility of whole-genome sequencing (WGS) in acutely...
Francis Collins
Outgoing NIH director remembered for Human Genome Project leadership, withstanding Washington, thinking big, and bringing people together.
Top Precision Medicine Health Systems
Pioneers in the delivery of precision medicine see their programs take hold and influence the next generation of healthcare.
Catching Cancer Red-Handed
Scientists and clinicians are using blood samples to detect and track these diseases more accurately than ever.
Investigational Medical Products for Rare Diseases: Ethical Concerns and Unresolved Issues with Expanded Access
By Alison Bateman-House, PhD, MPH, MA and Lisa Kearns, MS, MA
Introduction
Patients who have no therapeutic or diagnostic options available may seek access to investigational...
