A gene that causes a fatal childhood brain disorder can also cause adults to develop peripheral neuropathy, a condition resulting in weakness and decreased sensation in the hands and limbs, according to a study by researchers at the National Institutes of Health and other institutions. The study is the first to show that different mutations in the same gene cause the two seemingly unrelated disorders.
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.
NIH Appoints Alan Guttmacher Acting Director of NICHD
Alan E. Guttmacher, M.D., is the new acting director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), one of the 27 institutes and centers that comprise the National Institutes of Health.
NIH Newborn Screening Research Program Named In Memory of Hunter Kelly
The National Institutes of Health today announced the establishment of a research program to enhance newborn screening, in memory of the son of National Football League Pro Football Hall of Fame quarterback Jim Kelly.
The NICHD & Newborn Screening: A New Era
Today, the NICHD debuted its Hunter Kelly Newborn Screening Research Program in honor of Hunter and his family’s work.
In Memory of Eunice Kennedy Shriver
The world has lost a great leader in the struggle to improve and enhance the lives of individuals with intellectual and developmental disabilities.
New NIH Research Plan on Fragile X Syndrome and Associated Disorders
Researchers working for and with support from across the NIH have made significant advances in the understanding of FXS and the associated disorders FXTAS and FXPOI.
Delay in Diagnosis of Menopause-like Condition in Young Women Linked to Low Bone Density
Women and young girls who experience delays in diagnosing a premature, menopause-like condition face increased risk of low bone density, according to new research by scientists at the National Institutes of Health. A delay in diagnosing the condition, called primary ovarian insufficiency, may make women more susceptible to osteoporosis and fractures later in life, the researchers concluded.
Gene Scan Shows Body's Clock Influences Numerous Physical Functions
The pineal gland -- integral to setting the body's sleep and wake cycles -- may be involved in a broad range of bodily functions, according to a study by researchers at the National Institutes of Health and other institutions.
Researchers Develop DNA "Patch" For Canine Form of Muscular Dystrophy
Using a novel genetic technology that covers up genetic errors, researchers funded in part by the National Institutes of Health have developed a successful treatment for dogs with the canine version of Duchenne muscular dystrophy, a paralyzing, and ultimately fatal, muscle disease.
Speaker's Prepared Remarks
National Children’s Study Announcement of Study Launch
Common Treatment to Delay Labor Decreases Preterm Infants' Risk for Cerebral Palsy
Preterm infants born to mothers receiving intravenous magnesium sulfate--a common treatment to delay labor--are less likely to develop cerebral palsy than are preterm infants whose mothers do not receive it, report researchers in a large National Institutes of Health research network.
NIH Researchers Find That Rett Syndrome Gene Is Full of Surprises
A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett syndrome was an "off" switch, or repressor, for other genes. But the new study, published today in Science1, shows that it is an "on" switch for a startlingly large number of genes.
Newly Awarded Autism Centers of Excellence to Further Autism Research
The National Institutes of Health (NIH) announced on April 1, 2008, the latest recipients of the Autism Centers of Excellence (ACE) program. These grants will support studies covering a broad range of autism research areas, including early brain development and functioning, social interactions in infants, rare genetic variants and mutations, associations between autism-related genes and physical traits, possible environmental risk factors and biomarkers, and a potential new medication treatment.
In Honor of Eunice Kennedy Shriver
Eunice Kennedy Shriver, executive vice president of the Joseph P. Kennedy, Jr. Foundation and founder and honorary chairperson of Special Olympics, has been a leader in the worldwide struggle to improve and enhance the lives of individuals with intellectual and developmental disabilities for most of her life. Her vision and unrelenting efforts helped to establish the NICHD in 1962. In recognition of her dedication, Congress passed Public Law 110-154 on December 21, 2007, renaming the Institute as the Eunice Kennedy Shriver National Institute of Child Health and Human Development.
New NIH Research Plan on Down Syndrome
Research on lifelong disorders, such as Down syndrome, has been a fundamental part of the NICHD’s mission since the Institute was established 45 years ago. To build on this research foundation and coordinate Down syndrome research the NIH created its Working Group on Down Syndrome. Down syndrome is the most common genetic cause of intellectual and developmental disability and occurs in one out of 800 births in the United States.
NIH Develops Down Syndrome Research Plan
The National Institutes of Health has developed a research plan to advance understanding of Down syndrome and speed development of new treatments for the condition, the most frequent genetic cause of mild to moderate intellectual disability and associated medical problems. The plan sets research goals for the next 10 years that build upon earlier research advances fostered by the NIH.
NIH Funds New Program to Investigate Causes & Treatment of Autism
The National Institutes of Health will intensify its efforts to find the causes of autism and identify new treatments for the disorder, through a new research program.
Report Shows Gains, Setbacks for Nation's Children
Compared to national statistics for the previous year, there has been an increase in the percentage of children living with at least one working parent and the percentage of children living in households classified as food insecure has declined. High school students were more likely to have taken advanced academic courses and the percentage of young adults who completed high school has increased. The adolescent birth rate has dropped to a record low.
Boys with Autism, Related Disorders, Have High Levels of Growth Hormones
Boys with autism and autism spectrum disorder had higher levels of hormones involved with growth in comparison to boys who do not have autism, reported researchers from the National Institutes of Health, the Centers for Disease Control and Prevention, the Cincinnati Children's Hospital and the University Of Cincinnati College Of Medicine.
Researchers Discover Gene For Rare Skin Disorder
Researchers funded in part by the National Institutes of Health have identified the gene that accounts for most cases of Goltz syndrome, a rare skin disorder that can also affect bone and eye development.