Doctor's Appointment

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%.
Vial with syringe to signify drug or vaccine that needs to be injected

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.
Genetic engineering, GMO and Gene manipulation concept. Hand is inserting sequence of DNA.  3D illustration of DNA.

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.
OraSure lab

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.
Little boy eating peanuts

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.
Grilled chicken meat and fresh vegetable salad of tomato, avocado, lettuce and spinach. Healthy and detox food concept. Ketogenic diet. Buddha bowl in hands on white background, top view

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.
DNA and Brain

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.
Alzheimers disease, illustration

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.
Different family types seamless pattern

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.


newborn baby

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

Francis Collins

Outgoing NIH director remembered for Human Genome Project leadership, withstanding Washington, thinking big, and bringing people together.
Genetic engineering concept. DNA. Gene therapy. Medical technology

Top Precision Medicine Health Systems

Pioneers in the delivery of precision medicine see their programs take hold and influence the next generation of healthcare.
Close up of human biotechnologist testing testing blood for cancer in a laboratory

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...