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Mice engineered to have cleft palates can be rescued in utero by injecting the mothers with a small molecule to correct the defect, say scientists at the Stanford University School of Medicine and Lucile Packard Children's Hospital. In addition to shedding light on the biology of cleft palate, the research raises hopes that it may one day be possible to prevent many types of human birth defects by using a similar vaccination-type technique in pregnant women likely to have affected fetuses.

"This is a really important baby step that opens the door to the development of fetal therapies," said pediatric craniofacial surgeon Michael Longaker, MD.

Researchers at the National Institutes of Health and other institutions have found a second genetic defect that accounts for previously unexplained forms of osteogenesis imperfecta (OI), a disorder that weakens bones, sometimes results in frequent fractures and is sometimes fatal.

The affected gene contains the information for a protein designated P3H1 (prolyl 3-hydroxylase 1), also known as leprecan. P3H1 is part of a complex of proteins that is crucial for refining collagen to its final form. Collagen is an important building block for bone.

Americans are bombarded with antismoking messages, yet at least 65 million of us continue to light up. Genetic factors play an important role in this continuing addiction to cigarettes, suggest scientists at Washington University School of Medicine in St. Louis.

In two studies in the January 2007 issue of Human Molecular Genetics, the scientists show that certain genetic variations can influence smoking behaviors and contribute to a person's risk for nicotine dependence.

The smoking-related genes identified normally facilitate communication between nerve cells in the brain. One gene in particular, the alpha-5 nicotinic cholinergic receptor (CHRNA5) gene, was a very strong indicator of risk for nicotine dependence.

Newborns with respiratory distress should be evaluated for primary ciliary dyskinesia, a rare genetic disease that has features similar to cystic fibrosis, says Thomas Ferkol, M.D., from Washington University School of Medicine in St. Louis. He reports finding that about 80 percent of patients with primary ciliary dyskinesia (PCD) have a history of newborn respiratory distress.

"The diagnosis of PCD requires a high index of suspicion, but PCD must be considered in any term newborn who develops respiratory distress or persistent hypoxemia (low oxygen in the blood), especially those who have reversed internal organs or an affected sibling," says Ferkol, director of the Division of Pediatric Allergy and Pulmonary Medicine at Washington University School of Medicine and St.

Patients with Parkinson's disease who are younger when they develop the condition, have a personality trait known as novelty-seeking or whose personal or family history includes alcohol abuse may be more likely to develop pathological gambling as a side effect of medications used to treat their condition, according to a report in the February issue of Archives of Neurology, one of the JAMA/Archives journals.

Behaviors associated with impulse control—including compulsive shopping, hypersexuality, binge eating and pathological gambling—have been associated with dopamine agonists, medications used to treat Parkinson's disease.

University of Michigan Comprehensive Cancer Center researchers have discovered the small number of cells in pancreatic cancer that are capable of fueling the tumor's growth. The finding is the first identification of cancer stem cells in pancreatic tumors.

Cancer stem cells are the small number of cancer cells that replicate to drive tumor growth. Researchers believe current cancer treatments sometimes fail because they are not attacking the cancer stem cells. By identifying the stem cells, researchers can then develop drugs to target and kill these cells.


Pancreatic tumor generated from cancer stem cells. (Image courtesy of University of Michigan Health System)