birth defect

Mislabeled Proteins Linked to Birth Defects

IRP Researchers Discover Genetic Disorder Affecting the Brain and Skull

baby

A baby is born with a birth defect every four and a half minutes in the United States, adding up to one in every 33 babies born each year in this country. While some birth defects can be corrected or treated, many result in life-altering disabilities, and sometimes the child doesn’t survive. In fact, birth defects account for about 20 percent of infant deaths in the U.S. World Birth Defects Day, celebrated on March 3 each year, honors the people and organizations who are working to understand, prevent, and treat birth defects.

One of these organizations is the Undiagnosed Diseases Program (UDP) at NIH, which connects experts across the IRP’s 23 Institutes and Centers in a joint effort to find explanations for the “most puzzling medical cases" referred to the NIH Clinical Center.

Folic Acid: Learning About B Vitamins

An example of preventive medicine added to the 1951 NIH Clinical Center time capsule was a vial of synthetic folic acid, a B vitamin. Folic acid had first been isolated in crystalline form in 1943, but in 1951, Dr. James Hundley wrote that the “exact chemical form in which folic acid exists as a functional unit in metabolism is still in doubt."

lab technicians monitor changes in rats’ weight and blood for folic acid deficiency