Mental Retardation News and Research

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Study sheds light on role of microglia in the normal brain

Researchers have shown in mice how immune cells in the brain target and remove unused connections between brain cells during normal development. This research, supported by the National Institutes of Health, sheds light on how brain activity influences brain development, and highlights the newly found importance of the immune system in how the brain is wired, as well as how the brain forms new connections throughout life in response to change.

24 May 2012

Researchers generate neuronal cells from patients with Fragile X syndrome

Researchers at the Hebrew University of Jerusalem have achieved, for the first time, the generation of neuronal cells from stem cells of Fragile X patients. The discovery paves the way for research that will examine restoration of normal gene expression in Fragile X patients.

23 May 2012

Researchers identify new functions of cohesin SA1 that are relevant for cancer and CdLS

Cohesin is a ring-shaped protein complex involved in the spatial organization of the genome and in mitotic chromosome structure. Vertebrate somatic cells have two versions of cohesin that contain either SA1 or SA2, but their functional specificity has been largely ignored. Researchers of the Spanish National Cancer Research Centre (CNIO) under the direction of Ana Losada have identified new functions of cohesin SA1 that are relevant for two human diseases, cancer and Cornelia de Lange Syndrome.

4 May 2012

Scientists are working out how sequencing the human genome can help treat disease

Though the human genome has been sequenced, scientists are still trying to figure out how the accomplishment can help people, for example, how it can be used to treat disease. As University of Massachusetts Amherst geneticist Jacob Mayfield notes, "It was easy to think of the human genome as the big prize, but what we realize now is, it's just a foot in the door."

2 May 2012

SK Biopharmaceuticals receives FDA Orphan Drug status for carisbamate

SK Biopharmaceuticals, a South Korean pharmaceutical company, announced today that it was granted special status by the U.S. Food and Drug Administration (FDA) for carisbamate for the management of patients with infantile spasms (IS), a form of epilepsy associated with increased risk of death or mental retardation.

20 Apr 2012

Two CNVs may increase risk of aggressive prostate cancer

An international research team led by Weill Cornell Medical College investigators have discovered two inherited-genetic deletions in the human genome linked to development of aggressive prostate cancer.

10 Apr 2012

Ugandan government draws up response plan to combat 'nodding disease'

The Ugandan government is creating a "wide-ranging response plan" to "nodding disease, a mysterious ailment characterized by seizures, nodding of the head, mental retardation and stunting, which affects thousands of children in northern Uganda," IRIN reports.

8 Mar 2012

ACTB and ACTG1 actin genes cause Baraitser-Winter syndrome

Scientists from Seattle Children's Research Institute and the University of Washington, in collaboration with the Genomic Disorders Group Nijmegen in the Netherlands, have identified two new genes that cause Baraitser-Winter syndrome, a rare brain malformation that is characterized by droopy eyelids and intellectual disabilities.

1 Mar 2012

New kind of on-off switch for cortisol release in the brain discovered

After we sense a threat, our brain center responsible for responding goes into gear, setting off a chain of biochemical reactions leading to the release of cortisol from the adrenal glands.

23 Feb 2012

Scientists develop mutant zebrafish to study Maple Syrup Urine Disease

In medical research, finding a reliable and cost-effective animal model can greatly enhance success in identifying disease mechanisms and genetic pathways, potentially cutting years off drug testing regimes and development of new treatment strategies.

14 Feb 2012

Benefits of long-term Kineret therapy in people with NOMID

A new study shows that Kineret (anakinra), a medication approved for the treatment of rheumatoid arthritis, is effective in stopping the progression of organ damage in people with neonatal-onset multisystem inflammatory disease.

13 Feb 2012

UCSF-led study to sequence DNA from 4,000 people with epilepsy

To probe the genetic secrets of one of the most common neurological diseases, more than 4,000 people with various forms of epilepsy will have their DNA decoded over the next five years in a study led by researchers at the University of California, San Francisco (UCSF) and several collaborating institutions.

23 Jan 2012

Pediatric research project to expand data collection linked to newborn screening results

Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in potentially devastating conditions.

18 Jan 2012

Researchers discover that flatworm lacks centrosome

A tiny, freshwater flatworm found in ponds and rivers around the world that has long intrigued scientists for its remarkable ability to regenerate has now added a new wrinkle to biology.

6 Jan 2012

Bachmann's parting shot: Repeal health law

News outlets noted that as she announced she was leaving the GOP presidential race, Rep. Michele Bachmann continued to criticize the Affordable Care Act

5 Jan 2012

Shorter Chk1 protein neutralizes longer sibling to potentially benefit cancer patients

Scientists have found at least one instance when the smaller sibling gets to call the shots and cancer patients may one day benefit.

4 Jan 2012

Biologists develop radar to track ADAR's RNA editing activity in neurons

To track what they can't see, pilots look to the green glow of the radar screen. Now biologists monitoring gene expression, individual variation, and disease have a glowing green indicator of their own: Brown University biologists have developed a "radar" for tracking ADAR, a crucial enzyme for editing RNA in the nervous system.

26 Dec 2011

Researchers discover a factor in synapse-building and pruning

Like a gardener who stakes some plants and weeds out others, the brain is constantly building networks of synapses, while pruning out redundant or unneeded synapses. Researchers at The Jackson Laboratory led by Assistant Professor Zhong-wei Zhang, Ph.D., have discovered a factor in synapse-building, also showing that the building and pruning processes occur independent of each other.

17 Nov 2011

Computer-delivered intervention for pregnant women at risk for alcohol use

A team of researchers at Wayne State University's Parent Health Lab in the School of Medicine have received a three-year grant to develop a computer-delivered intervention for pregnant women at risk for alcohol use, which can lead to lifelong negative effects on the fetus.

27 Oct 2011

A more accurate blood test to detect fetal Downs syndrome launched

Pregnant mothers in the U.S. who wish to know whether they're carrying a fetus with Down syndrome now have access to a commercial genetic blood test that has a 99 per cent accuracy rate.

20 Oct 2011