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Children with creatine transporter deficiency, a hereditary developmental disorder, have higher levels of three proteins that are also found in people with Alzheimer’s disease, according to a small study by researchers at the National Institutes of Health and other institutions. The higher the level of proteins, the lower the children scored on a test of coping behaviors and skills. The findings may help inform diagnostic approaches for the disorder.

Researchers at NIH have discovered that mutations in the gene SPIN4 cause a rare overgrowth disorder in people.

Findings from study highlight importance of preconception health for fathers.

On average, scores on development tests were lower for infants born earlier in the range of a term pregnancy—from 37 to 41 weeks—than for those born later in the range, suggests a study by researchers at the National Institutes of Health. The slight difference in scores, first apparent at eight months, persisted through age seven. The findings may have implications for current practice guidelines recommending induction of labor for non-medical reasons at the 39th week of pregnancy.

Read about NICHD’s research findings and activities from 2021.

Dr. Grewal has been acting director of the division since February 2020.

Receiving detailed genomic information on their newborn’s potential risks for childhood and adult diseases does not appear to cause distress or anxiety among parents, suggests a study funded by the National Institutes of Health. The findings could help to allay concerns that routinely sequencing newborn genomes to obtain information about their long-term health prospects may be too stressful for families.

2020 was a year filled with many challenges. NICHD remained focused on our core mission, advancing key research in women’s health, reproductive science, rare childhood diseases and many more. Watch the video below and review our research highlights of 2020.

The National Center for Medical Rehabilitation was established in 1990 through the landmark Americans with Disabilities Act.

Children with birth defects have a higher risk of cancer than children without birth defects. Now, researchers funded by the National Institutes of Health have found that children conceived through in vitro fertilization—who have a higher risk of birth defects than children conceived naturally—also have a commensurately higher risk of cancer than naturally conceived children with birth defects.

Our National Center for Medical Rehabilitation Research has advanced the field with significant achievements over the past 30 years that have improved the health, independence and quality of life of people with disabilities.

Intramural Group Wins Microphotography Prize

Researchers funded by the National Institutes of Health have used a rapid DNA sequencing technique to identify gene variants in roughly a third of cases of nonimmune Hydrops fetalis (NIHF), a serious condition in which a fetus develops fluid buildup inside the abdominal cavity, lungs, or other parts of the body. The findings suggest that the DNA sequencing technique, known as exome sequencing, could be used to provide information unavailable with current genetic testing methods.

The pandemic reinforces why the NIH INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project matters to families and communities.

NIH announces funding for three centers for collaborative research on Fragile X syndrome, the most common inherited form of intellectual and developmental disability, and related conditions.

NIH has launched a new initiative that will combat the growing problem of maternal mortality and morbidity in the United States.

Exposure to iodine used for medical procedures in a neonatal intensive care unit (NICU) may increase an infant’s risk for congenital hypothyroidism (loss of thyroid function), suggests a study by researchers at the National Institutes of Health and other institutions.

Ida S. Owens, Ph.D., was internationally known for her research advances on the genetics of drug metabolism. She also was the first African American woman to earn a doctoral degree from Duke University.

Children as young as 6 years old who underwent fetal surgery to repair a common birth defect of the spine are more likely to walk independently and have fewer follow-up surgeries, compared to those who had traditional corrective surgery after birth, according to researchers funded by the National Institutes of Health.

Read about NICHD’s notable research findings and activities from 2019.