Genetic disorders
A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism. The findings are published in the...
A healthy genome is characterized by 23 pairs of chromosomes, and even a small change in this structure -- such as an extra copy of a single chromosome -- can lead to severe physical impairment. So it's no surprise that when it comes to cancer,...
Using a mouse model, Heidelberg University Hospital researchers have for the first time successfully treated a severe congenital disorder in which sugar metabolism is disturbed. The team headed by Prof. Christian Körner, group leader at the...
A large, international team of researchers led by scientists at the University of California, San Francisco (UCSF) has identified the gene that causes a rare childhood neurological disorder called PKD/IC, or "paroxysmal kinesigenic dyskinesia...
When a muscle is damaged, dormant adult stem cells called satellite cells are signaled to "wake up" and contribute to repairing the muscle. University of Missouri researchers recently found how even distant satellite cells could help with...
In a paper published in the Nov. 9 issue of The Journal of Neuroscience, researchers at the University of California, San Diego School of Medicine and University of Washington describe in deeper detail the pathology of a devastating neurological...
A factor that is crucial for the proper positioning of genes in the cell nucleus has been discovered by a team of researchers from the Alexander Silberman Institute of Life Sciences at the Hebrew University of Jerusalem and the Friedrich Miescher...
A new study describes how hyperactivation of AMP-activated protein kinase (AMPK) promotes neurodegeneration in Huntington's disease (HD). The article appears online on July 18, 2011, in The Journal of Cell Biology (www.jcb.org). The aggregation of...
A thalidomide analog is shaping up as a safe, worthy opponent of sickle cell disease, Georgia Health Sciences University researchers report. Much like hydroxyurea, the only Food and Drug Administration-approved therapy for sickle cell, pomalidomide...
The human genome encodes 243 voltage-gated ion channels. Mutations in calcium channels can cause severe inherited diseases such as migraine, night blindness, autism spectrum disorders and Timothy syndrome, which leads to severe cardiovascular...
Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other...
A team of scientists, led by researchers at the University of California, San Diego School of Medicine, have uncovered a novel mechanism regulating gene expression and transcription linked to Spinocerebellar ataxia 7, an inherited neurological...
Researchers have used cutting-edge stem cell technology to correct a genetic defect present in a rare blinding disorder, another step on a promising path that may one day lead to therapies to reverse blindness caused by common retinal diseases such...
The Aurora A kinase may contribute to polycystic kidney disease (PKD) by inactivating a key calcium channel in kidney cells, according to a study in the June 13 issue of The Journal of Cell Biology (www.jcb.org). Aurora A is an oncogene best known...
Excessive noise is not the only thing that causes damage to hearing. In many cases, genetic factors are responsible for the loss of hearing at a young age. Researchers at the Max Planck Institute for Molecular Genetics in Berlin together with...
Nitric oxide gas appears to directly impact the source of the classic, disabling pain crises of sickle cell disease, Georgia Health Sciences University researchers report. The short-acting gas helps unglue hemoglobin molecules that stick together,...
When a high school athlete drops dead, the rare but fatal condition called "sudden death syndrome" dominates the headlines. For reasons that remain a mystery to scientists, some young athletes — especially young males — begin to experience an...
Researchers at the University of Pennsylvania School of Medicine are delving into the details of the complex structure at the ends of chromosomes. Recent work, e-published in Nature Structural & Molecular Biology last month, describes how these...
University of Missouri researchers believe both man and animal will benefit from their discovery that the same gene mutation found in Tibetan Terrier dogs can also be found in a fatal human neurological disorder related to Parkinson's disease....
Sanfilippo disease is a rare disorder caused by the failure of enzymes to break down specific kinds of complex carbohydrates, resulting in their accumulation in cells and often severe physical and neurological problems – and sometimes early death....
Everyone knows chocolate is critical to a happy Valentine's Day. Now scientists are one step closer to knowing what makes a heart happy the rest of the year. It's a gene called DOT1L, and if you don't have enough of the DOT1L enzyme, you could be at...
A team of Johns Hopkins Children's Center researchers has discovered that a protein involved in cystic fibrosis (CF) also regulates inflammation and cell death in emphysema and may be responsible for other chronic lung diseases. The findings,...
With few exceptions, jumping genes-restless bits of DNA that can move freely about the genome-are forced to stay put. In patients with Rett syndrome, however, a mutation in the MeCP2 gene mobilizes so-called L1 retrotransposons in brain cells,...
A pediatric immunologist at The Children's Hospital of Philadelphia collaborated with European gene therapy researchers who achieved marked clinical improvements in two young children with Wiskott-Aldrich syndrome, a very rare but often severe...
Researchers report that a drug commonly used to treat diabetes may also retard the growth of fluid-filled cysts of the most common genetic disorder, polycystic kidney disease. PKD does not discriminate by gender or race and affects one in 1,000...
Physical defects in plants can be predicted based on chromosome imbalances, a finding that may shed light on how the addition or deletion of genes and the organization of the genome affects organisms, according to a study involving a Purdue...
At a global scale, the sickle cell gene is most commonly found in areas with historically high levels of malaria, adding geographical support to the hypothesis that the gene, whilst potentially deadly, avoids disappearing through natural selection...
A break in the two chromosomes has given scientists a break in finding a new gene involved in puberty, Medical College of Georgia researchers report. It's also helped clear up why some patients with delayed puberty have no sense of smell, said Dr....
A new multi-center study of 854 children with Crohn's disease shows a 5-year cumulative risk of bowel surgery is significantly lower than reported in recent studies. The findings of the study, led by Hasbro Children's Hospital, also indicate that...
Johns Hopkins researchers have compiled what they believe are reliable lists of tell-tale physical signs to help doctors recognize children with Marfan and Loeys-Dietz syndromes. Timely and early diagnosis of both genetic disorders can mean the...
So often the rare informs the common. Penn researchers investigating a regulatory protein involved in a rare genetic disease have shown that it may be related to epileptic and autistic symptoms in other more common neurological disorders. A team of...
