Developmental Malformations News


Dec 27, 2016
Experimental therapy for Prader-Willi syndrome shows promise in mice
Drugs capable of activating silenced genes, namely UNC0638 and UNC0642, were found to improve survival and growth outcomes in a mouse model of Prader-Willi syndrome according to a study funded by the National Institutes of Health.
Dec 20, 2016
Findings in tuberous sclerosis complex on the role of inflammation and epilepsy
A preclinical study provides a proof-of-concept suggesting that anti-inflammatory treatment could be a potential therapy for epilepsy in tuberous sclerosis patients. The study found rapamycin minimally corrected some brain tissue abnormalities in a mouse model, but, more importantly, there was a small decrease in seizure development and slightly improved survival in the mice.
Aug 05, 2016
Microcephaly discoveries made in non-Zika cases help explain abnormal brain growth
In 2 new papers in the American Journal of Human Genetics, researchers report new findings about a key protein - CIT - involved in the process that generates the many new cells required to build a normal size brain. Though the new studies didn't involve Zika-related microcephaly, they may provide clues that other scientists can use to investigate how Zika virus disrupts brain development, and my also provide insight into what is required for brains to develop normally.
Jun 28, 2016
Insights into neurons that cause symptoms of Rett syndrome could guide new therapy search
Two recent studies in mice from Baylor College of Medicine, Texas, together show that rescuing the activity of MeCP2 in certain cell types can have a profound effect on improving symptoms of Rett syndrome.
Jun 14, 2016
New insights uncovered into Prader-Willi syndrome
A study using a mouse model published in the journal Human Molecular Genetics provides novel insights into the brain mechanisms underlying the insatiable hunger and subsequent obesity in patients with Prader-Willi syndrome. Study findings suggest the gene Magel2 plays a major role, independently of the effects of metabolic hormones.
Feb 24, 2016
Sleep changes seen with fetal alcohol exposure partly explain learning and mood problems
According to a study recently published online in the journal Neuroscience, exposure of a developing brain to binge levels of alcohol results in a permanent fragmentation in slow-wave sleep, with the extent of the fragmentation influencing the severity of related cognitive disorders.
Jan 19, 2016
Gene may be important in autism disorders, other neuropsychiatric syndromes
A paper appearing online today in Scientific Reports suggests that the RANBP1 gene is a significant genetic factor in both autism spectrum disorder and 22q.11.2 deletion syndrome. Furthermore, when the mGluR network is disrupted at multiple points, it predisposes individuals to a more severe disease.
Nov 26, 2015
Genetic cause of cleft palates
A team of scientists has taken an important step toward discovering the genetic causes of Goldenhar syndrome. It is the first time that a specific function in a living organism has been ascribed to the protein GSKIP, which is crucial to embryonic development.
Oct 12, 2015
Hard-to-detect chromosomal anomalies explain neurodevelopmental birth defects
Balanced chromosomal abnormalities (BCAs), a category of structural changes to the human genome, may account for a large portion of birth defects related to brain development and function, according to research presented at the American Society of Human Genetics Annual Meeting.
Aug 14, 2015
Birth factors may predict schizophrenia in 22q11.2 deletion syndrome
Low birth weight and preterm birth appear to increase the risk of schizophrenia among individuals with 22q11.2 deletion syndrome, a new study from the Centre for Addiction and Mental Health shows. The study is published in Genetics in Medicine.
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