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Latest Nature Genetics Stories

2012-08-27 19:38:54

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke and dementia. An international research team recently discovered a new genetic disease related to vitamin B12 deficiency by identifying a gene that is vital to the transport of vitamin into the cells of the body. This discovery will help doctors better...

Sequenced Malaria Genome Provides Benefits, Difficulties In Finding A Cure
2012-08-06 11:45:07

Brett Smith for redOrbit.com - Your Universe Online After sequencing the genome of several malaria-related parasites, scientists found that the protozoans responsible for the deadly disease are very genetically diverse and therefore difficult to eradicate, according to their report published this week in the journal Nature Genetics. While the genomes of the four sequenced strains of Plasmodium vivax, a parasite that infects about 100 million people each year, indicated that...

2012-07-30 13:45:09

A five-country international team, led by Casey Eye Institute Molecular Diagnostic laboratory, BGI and Zhejiang University School of Medicine First Affiliated Hospital identified the NMNAT1 mutations as a cause of Leber congenital amaurosis (LCA), one of the most common causes of inherited blindness in children. The latest study was published online in Nature Genetics, reporting the genetic characteristics underlying some LCA patients, and providing important evidences that support NMNAT1 as...

2012-07-30 12:49:50

Alternating hemiplegia of childhood (AHC) is a very rare disorder that causes paralysis that freezes one side of the body and then the other in devastating bouts that arise at unpredictable intervals. Seizures, learning disabilities and difficulty walking are common among patients with this diagnosis. Researchers at Duke University Medical Center have now discovered that mutations in one gene cause the disease in the majority of patients with a diagnosis of AHC, and because of the root...

2012-07-11 05:33:37

A new single-gene cause of chronic kidney disease has been discovered that implicates a disease mechanism not previously believed to be related to the disease, according to new research from the University of Michigan. The research was published July 8 in the journal Nature Genetics. “In developed countries, the frequency of chronic kidney disease is continually increasing for unknown reasons. The disease is a major health burden,” says Friedhelm Hildebrandt, M.D., the...

2012-07-09 16:28:35

Systemic complications include life-threatening thoracic aortic disease Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome. Genome-wide analysis of two unrelated families, one...

Susceptibility Genes Can Be Revealed From Exome Sequencing Of Health Condition Extremes
2012-07-09 10:55:33

DNA from cystic fibrosis patients with and without chronic infections points to unsuspected mutation Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections. The DCTN4 gene codes for dynactin 4. This protein is a component of a molecular motor that moves trouble-making...

2012-07-02 22:03:20

Discovery may lead to new, more powerful precision medicines that thwart resistance to the common lung cancer drug Tarceva People with lung cancer who are treated with the drug Tarceva face a daunting uncertainty: although their tumors may initially shrink, it's not a question of whether their cancer will return–it's a question of when. And for far too many, it happens far too soon. Now, a team of researchers at the University of California, San Francisco's Helen Diller Family...

Massive Brain Asymmetry Caused By Gene Mutations
2012-06-25 09:41:28

Discovery could help lead to prevention of radical surgery in rare childhood disease Hemimegalencephaly is a rare but dramatic condition in which the brain grows asymmetrically, with one hemisphere becoming massively enlarged. Though frequently diagnosed in children with severe epilepsy, the cause of hemimegalencephaly is unknown and current treatment is radical: surgical removal of some or all of the diseased half of the brain. In a paper published in the June 24, 2012 online issue of...

2012-06-12 10:52:23

The study has demonstrated that genetic variability in the embryo may predispose to cancer in adult life A study recently published in Nature Genetics provides new evidence that the genetic makeup of the embryo may cause the appearance of tumors in adult life. These results bear out the growing theory that some tumors may have an extremely early origin, tracing to the individual's embryonic development, while offering new clues to understand the genetic causes of certain kinds of cancer,...


Word of the Day
siliqua
  • A Roman unit of weight, 1⁄1728 of a pound.
  • A weight of four grains used in weighing gold and precious stones; a carat.
  • In anatomy, a formation suggesting a husk or pod.
  • The lowest unit in the Roman coinage, the twenty-fourth part of a solidus.
  • A coin of base silver of the Gothic and Lombard kings of Italy.
'Siliqua' comes from a Latin word meaning 'a pod.'
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