MOST parents dream of a 5-week-old baby who sleeps through the night, but Aga Warnell knew something was wrong. Her baby, Nina, just wasn't hungry in the way her other daughters had been. Within weeks, Nina became very ill, says her father, Graeme. She was admitted to hospital with a…

Gene therapy emerged 15 yr ago with great expectations for a marriage between the remarkable advances in molecular biology of the previous decade and clinical medicine. It was originally an innovative treatment for incurable diseases, so-called genetic disorders, in which the disease was caused by mutation, truncation, or complete loss…

Bartter syndrome and Gitelman syndrome are characterized by fluid, electrolyte, urinary, and hormonal abnormalities, including renal K, Na, Cl, and H wasting; hypokalemia; hyperreninemia and hyperaldosteronism without hypertension; and metabolic alkalosis. Findings include electrolyte, growth, and sometimes neuromuscular abnormalities. Diagnosis is assisted by urine electrolyte measurements and hormone assays but…

Most children love animals. The joy in an child’s face at the sight of a dog, a cat, or a guinea pig is something all parents love to behold. It’s also something scientists say can be an especially good thing for children who suffer with anxiety disorders or depression. Whether…

Seoul Korea, Tues., February 20, 2011 – A sequence analysis of the BSND gene showed that the affected males were homozygous for a missense G47R mutation in exon 1 of BSND. These findings suggest that the G47R mutation results in a dramatic decrease in barttin expression, which appears to be…

Bethesda, MD, Tues., December 6, 2011 – A new funding plan by the National Human Genome Research institute (NHGRI) sharpens the focus of its flagship Genome Sequencing Program on medical applications. In addition to on-going studies, the four-year, $416 million plan launched new efforts to find causes of rare inherited…