NICHD scientists and colleagues identified genetic variants that disable the protein complex BORC as the cause of a severe neurodegenerative disorder that begins early in life. Subsequent work helped unravel the role of BORC in neurons and explain how defects in BORC function may contribute to neurodegeneration.
News
NICHD issues News Releases and Media Advisories to the news media. Spotlight and Research Feature articles explain NICHD research findings and public health issues to the general public. An Item of Interest is a short announcement of relevant information, such as a notable staff change.
Science Update: Positive parenting may counteract children’s biological aging in the face of adversity, NIH-funded study suggests
Positive parenting practices, like praising, noticing, and encouraging children’s behavior, may help reduce the faster rate of biological aging seen in children under adverse conditions. Such positive parenting practices may counter the effects of children’s hardships, improving their long-term physical and psychological health.
Spotlight: Looking Back on NICHD in 2023
As we ring in 2024, we’d like to take a brief look back on our accomplishments during 2023. These activities illustrate the institute’s continued commitment to research and training in its mission areas.
Release: NIH designates people with disabilities as a population with health disparities
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.
Science Update: Gene therapy for rare neurodegenerative disease shows early promise
A research team including NICHD scientists has developed a potential gene therapy for hereditary spastic paraplegia 50, a rare childhood-onset neurodegenerative disorder that leads to developmental delays, cognitive impairment, and eventual paralysis.
Science Update: Infants’ cries may predict later developmental problems, NIH-funded study suggests
Characteristics of the cries of preterm infants may help predict their risk for long-term developmental and behavioral problems, suggests an NICHD-funded study. The findings may lead to tools to identify babies at highest risk for such issues, aiding early treatment or prevention efforts.
Selected NICHD Research Advances of 2022
Read about NICHD’s research findings and activities from 2022.
Release: Alzheimer’s progression in Down syndrome appears similar to other genetic, early onset forms of the disease
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.
Science Update: Mouse model of rare disease highlights importance of balance between two opposing proteins
Reducing levels of the protein WAPL may partially correct disease traits caused by a deficiency of NIPBL, a protein with the opposite function, suggests a mouse study by NICHD scientists. The findings suggest the importance of striking a proper balance between NIPBL and WAPL activities and improve understanding of the mechanisms underlying the rare developmental disorder Cornelia de Lange syndrome.
Item of Interest: NICHD researchers collaborate with basic scientists to understand rare, fatal childhood neurological disorder
NICHD researchers conducting a clinical study of patients with a rare, fatal neurological disorder have partnered with basic scientists to find better ways to understand the disease, monitor its progression, and ultimately find treatments.
Release: NIH awards $100 million for Autism Centers of Excellence program
The National Institutes of Health has awarded a total of $100 million over the next five years to support nine Autism Centers of Excellence (ACEs). This endeavor funds large research projects to understand and develop interventions for autism spectrum disorder (ASD). Created in 2007, the ACE program is renewed every five years.
Media Advisory: Changes in brain’s visual areas in infancy may precede autism diagnosis
Infants who were diagnosed with autism spectrum disorder (ASD) at 24 months old had differences in the visual processing areas of the brain that were apparent at 6 months old, according to a study funded by the National Institutes of Health. The researchers theorized that disruption in visual processing could interfere with how infants see the world around them, changing how they interact with and learn from caregivers and their environment. These early changes could affect further brain development and play a role in ASD symptoms.
Spotlight: Selected NICHD Research Advances of 2021
Read about NICHD’s research findings and activities from 2021.
Director's Corner: Celebrating NICHD’s 60th Anniversary
As we ring in the new year, 2022 marks a special milestone—the 60th anniversary of NICHD.
Item of Interest: PregSource® Mobile App Allows Access from Anywhere
It just got easier to participate in the PregSource®: Crowdsourcing to Understand Pregnancy research project. The free app allows participants to track their weight, sleep, mood, and other features of their pregnancy in just a few taps.
Media Advisory: Extreme eating problems in early childhood linked to higher chance of developmental delay, NIH study suggests
Young children with a history of eating problems in the first three years of life were more likely to receive low scores on assessments of child development, according to a study by researchers at the National Institutes of Health. The findings suggest that children with multiple eating problems—frequent crying during meals, pushing food away, gagging and others—may benefit from screening for developmental delay.
Media Advisory: In-person school during COVID-19 must address needs of underserved communities
NIH commentary highlights community engagement in research design and implementation.
Item of Interest: NIH Research Plan on Rehabilitation Now Available
The newly published 2021 NIH Research Plan on Rehabilitation reflects advances since the previous plan was released in 2016 and new directions that will help guide rehabilitation research across NIH for the next five years.
Director's Corner: Reflecting on Our Commitment to Nutrition Research
As we usher in November and Thanksgiving, it’s a fitting time to reflect on NICHD’s commitment to research on nutrition.
Media Advisory: Oxytocin does not improve social functioning in children with autism spectrum disorder, NIH-funded study suggests
Regular doses of the hormone oxytocin do not appear to overcome deficits in social functioning among children with autism spectrum disorder (ASD), suggests a study funded by the National Institutes of Health. The findings contradict earlier reports that indicated the hormone could alleviate the difficulties in social functioning characteristic of ASD. Oxytocin is associated with empathy and social bonding.