News & Updates

A new and improved version of NIH’s online Down syndrome registry promises to enhance the relationship between families and researchers and better address the health issues of people with Down syndrome.

NICHD announced winners of the first phase of its Community Champions for Disability Health Challenge, a prize competition that encourages community-based organizations to develop and implement strategies to reduce health disparities experienced by people with disabilities.

Each year, NICHD reflects on selected highlights from the past 12 months that demonstrate how public investment in research drives scientific progress and benefits human health. In 2024, NICHD research expanded knowledge of and enhanced care in women’s health, fetal and pediatric health, disabilities, rehabilitation, and more.

Read about select research advances supported by NICHD in 2024, including work on women’s health, child and adolescent health, medical rehabilitation, health disparities, and more.

NIH researchers found previously undetected cancers in nearly half of pregnant women who had abnormal results for prenatal cell-free DNA testing used to screen for chromosomal disorders in the fetus.

The NIH INCLUDE Project launched a new long-term study, called the Down Syndrome Cohort Development Program, to observe and track health data of people with Down syndrome from birth to adulthood.

NIH launched a new federal challenge to encourage community-based organizations to develop and implement strategies to reduce health disparities experienced by people with disabilities.

Inclusion of people with disabilities across the research enterprise—as leaders and members of the scientific workforce and as clinical research participants—is critical to ensuring that studies reflect the needs and desires of the people they seek to benefit. This Disability Pride Month, Dr. Bianchi discusses how community engagement is advancing Down syndrome research.

NIH awarded $1.4 million in first-year funding to the University of Colorado Denver to manage and improve DS-Connect^®: The Down Syndrome Registry. DS-Connect^® enables the Down syndrome community to connect with researchers, express interest in clinical studies, and complete surveys to improve understanding of their health.

Researchers developed a new method of evaluating blood from pregnant women to identify anomalies in the genes of fetuses. The new approach is more sensitive than current tests, which screen only for chromosome-level variants, such as an extra chromosome, and a small number of fetal genetic variants. It is also less invasive than current methods, which often involve inserting a needle into the uterus to retrieve fetal cells for analysis.

NIH has designated people with disabilities as a population with health disparities for research. People with disabilities often experience a wide and varying range of health conditions leading to poorer health and shorter lifespan. In addition, discrimination, inequality, and exclusionary structural practices, programs, and policies inhibit access to timely and comprehensive health care, which further results in poorer health outcomes.

The theme for this year’s World Down Syndrome Day—With us, not for us—reflects a major goal of NIH’s INCLUDE project, which NICHD co-leads. INCLUDE aims to increase the participation of people with Down syndrome and their families in clinical research to expand our knowledge about the condition and its links to other health issues, with the ultimate goal of improving the health and quality of life of affected individuals.

Read about NICHD’s research findings and activities from 2022.

Amyloid plaques—protein clumps that are one of the hallmarks of Alzheimer’s disease—occur at roughly the same level in the brains of people with Down syndrome who have Alzheimer’s as they do in people with forms of hereditary, early-onset Alzheimer’s, according to research funded by the National Institutes of Health. Based on the largest study of its kind to date, the findings suggest that individuals with Alzheimer’s and Down syndrome may benefit from participating in studies on Alzheimer’s therapies aimed at slowing formation of amyloid plaques.

Scientists funded by the National Institutes of Health have developed a same-day test to identify abnormal fetal chromosomes.

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

Dr. Bianchi reflects on the life and contributions of Eunice Kennedy Shriver ahead of Mrs. Shriver’s 100th birthday and how improving equity, diversity, and inclusion at NICHD continues Mrs. Shriver’s work.

Researchers funded by the National Institutes of Health have developed a test to evaluate the expressive language skills of people with Down syndrome, a condition resulting from an extra copy or piece of chromosome 21. Expressive language is the use of words to convey meaning to others. Language delays are common in people with Down syndrome, and the study authors believe their test provides a more effective way to evaluate prospective language interventions, compared to current evaluation methods.

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.

Read about NICHD’s research findings and activities from 2020.