NIH Record - National Institutes of Health

Screening Newborns for Deadly Immune Disease Saves Lives

Researchers found widespread screening of newborns for a deadly disease called severe combined immunodeficiency (SCID), followed by early treatment boosted the five-year survival rate of children with the disorder from 73% before the advent of screening to 87% since.

Human Pangenome Boosts Accuracy, Reflects Diversity

Genetic differences between people can cause or alter the severity of various diseases and influence the effectiveness of treatments. Scientists identify such genetic variants by comparing an individual’s genome sequence to a standard, which is known as a reference genome. An NIH-funded consortium has developed a reference “pangenome” that represents more human genetic diversity. The pangenome resembles a transit map, with different lines representing each component genome.

NIH’s ComboMATCH Will Test New Drug Combinations Guided by Tumor Biology

NCI has launched a large precision medicine cancer initiative to test the effectiveness of treating adults and children with new drug combinations that target specific tumor alterations. Known as the Combination Therapy Platform Trial with Molecular Analysis for Therapy Choice (ComboMATCH), the initiative is the largest of its kind to test combinations of cancer drugs guided by tumor biology.

Study Highlights Financial Toll of Health Disparities

A groundbreaking study provides national and state-level estimates of the economic burden of health disparities by race, ethnicity and educational levels. New research shows that the economic burden of health disparities in the United States remains unacceptably high.

The NIH Record

The NIH Record, founded in 1949, is the biweekly newsletter for employees of the National Institutes of Health.

Published 25 times each year, it comes out on payday Fridays.

Assistant Editor: Eric Bock
Eric.Bock@nih.gov (link sends e-mail)

Staff Writer: Amber Snyder
Amber.Snyder@nih.gov (link sends e-mail)