A biomarker used to detect a rare neurodegenerative disorder of cholesterol metabolism, Niemann-Pick disease type C1 (NPC1), may also be useful for diagnosing another class of rare diseases known as congenital disorders of glycosylation (CDG), suggests a study by researchers at the National Institutes of Health.
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.
Media Advisory: Repurposed ALS drug shows promise in mouse model of rare childhood genetic disorder
Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in Niemann-Pick disease type C1 (NPC1), a rare genetic disorder affecting children and adolescents, suggests a study in mice by scientists at the National Institutes of Health.
Media Advisory: Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease
The drug miglustat appears to stabilize the swallowing problems that occur in children and adolescents with Niemann-Pick type C1 (NPC1), a rare and ultimately fatal neurological disease, according to a study by researchers at the National Institutes of Health. The authors conclude that the drug could slow the deterioration of swallowing function in NPC1 cases and decrease the risk of pneumonia resulting from aspiration, or inhaling food or drink. Aspiration pneumonia accounts for roughly 2 out of 3 deaths in people with NPC1.
Media Advisory: NIH researchers discover new set of channels connecting malaria parasite and blood cells
Researchers at the National Institutes of Health and other institutions have discovered another set of pore-like holes, or channels, traversing the membrane-bound sac that encloses the deadliest malaria parasite as it infects red blood cells. The channels enable the transport of lipids—fat-like molecules—between the blood cell and parasite, Plasmodium falciparum. The parasite draws lipids from the cell to sustain its growth and may also secrete other types of lipids to hijack cell functions to meet its needs.
Spotlight: Selected NICHD Research Advances of 2017
Over the past year, NICHD contributed to numerous scientific advances and key initiatives.
Experimental treatment for Niemann-Pick disease type C1 appears safe, effective
An experimental drug appears to slow the progression of Niemann-Pick disease type C1 (NPC1), a fatal neurological disease, according to results of a
clinical study led by researchers at the National Institutes of Health (NIH). The study appears in The Lancet.
NIH scientists find rare disease clues in cell’s recycling system
Scientists have demonstrated how an investigational drug works against a rare, fatal genetic disease, Niemann-Pick type C1 (NPC1).
Selected NICHD Research Advances of 2016
NICHD had a very productive year in 2016. Staff responded quickly to Zika virus and led the effort to develop the NIH Research Plan on Rehabilitation. The following snapshots are examples of the many advances made possible by NICHD this year.
Research Roundup: Here’s How NICHD Research Is Improving Patients’ Lives
Read a selection of past Spotlights featuring the stories of kids and adults whose lives have been enhanced by NICHD-supported research through new treatments, improved patient engagement, and new prevention and intervention campaigns.
NIH researchers uncover how neurons die in Niemann-Pick disease type C1
The loss of neurons that is a hallmark of Niemann-Pick disease type C1 (NPC1) appears to result from a cell death process called necroptosis, according to a new study from the National Institutes of Health (NIH).
Rare Disease Research at NICHD: Niemann-Pick Disease Type C
Watch the following video to learn how NICHD research helps families with Niemann-Pick disease type C (NPC). NPC is a rare childhood disease that gradually impairs brain function and movement.
Research Round-up: Rare Disease Research
A disease is considered rare in the United States if it affects fewer than 200,000 people. There are approximately 7,000 rare diseases known today.
NIH teams with industry to develop treatments for Niemann-Pick Type C disease
Researchers from the National Institutes of Health have entered into an agreement with biotechnology company Vtesse, Inc., of Gaithersburg, Maryland, to develop treatments for Niemann-Pick disease type C (NPC) and other lysosomal storage disorders.
NIH opens research hospital to outside scientists
Ten projects that will enable non-government researchers to conduct clinical research at the National Institutes of Health’s Clinical Center in Bethesda, Md. were announced today.
NIH Observes Rare Disease Day on February 28
On February 28, the NIH observes Rare Disease Day to raise awareness of the approximately 7,000 rare diseases in the United States. The day is an opportunity to recognize how rare diseases affect those who have them, and to emphasize the importance of research to improve diagnosis and treatment.
NIH clinical trial begins for treatment of rare, fatal neurological disorder
A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start on Wednesday, researchers announced today.
Porter Named NICHD Clinical Director
Forbes D. Porter, M.D., Ph.D., has been appointed Clinical Director of the Division of Intramural Research at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
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