UCLA researchers discover new disorder that causes chronic diarrhea in children
... have unraveled a mysterious condition that causes congenital diarrhea and intestinal failure in children. The new disorder, named enteric anendocrinosis, is caused by a mutation in the gene Neurogenin-3 (NEUROG3). The findings represent the first description of a disease-causing mutation of NEUROG3 in...UT Southwestern researchers find gene mutation that leads to 'broken hearts'
...n the complex process of heart formation result in congenital heart defects, the most common birth defects in hu...e biochemical pathway in human heart formation and congenital heart disease. "We were surprised to discover that a group of enzymes involved in lipid synthesis...UF scientists test improved gene therapy method for hereditary heart conditions
...ardiovascular conditions linked to faulty genes or congenital metabolic diseases, including atherosclerosis, stroke, muscular dystrophy and an enlargement of the heart muscle known as dilated cardiomyopathy. But efforts to begin testing it in people have been slowed by the need to find ways to deliver correct...Prenatal health strongly influences future economic success
...cy purposes is that whereas heredity is immutable, congenital characteristics are mediated by the prenatal environment. This strongly suggests that economic outcomes are malleable in a way not widely recognized and therefore subject to improvement," explains Douglas Almond (Columbia University). Detecting del...Study illuminates birth defects caused by copper deficiency
...may contribute to structural birth defects such as congenital scoliosis" (or curvature of the spine), Gitlin sai...nts and the risk that her children might develop a congenital disorder," Gitlin said. "Ultimately, that information could allow us to provide for every woman a re...Study will explore genetics of congenital limb and heart malformations
...al of Cell Biology explains for the first time why congenital heart defects so often occur with limb deformities. In their research into the molecular mechanisms that control embryonic limb and heart development, Northwestern University researcher Hans-Georg Simon and his laboratory group recently identified...Replacing insulin is top-ranked breakthrough foreseen for health in developing world
...or regenerate cells, tissues or organs impaired by congenital defects, disease, trauma and other causes. It moves beyond traditional transplant and replacement therapies to include the use of stem cells, soluble molecules, genetic engineering, tissue engineering, and advanced cell therapy. There is increasing...Cellular traffic backups implicated in skeletal malformations
...SD is a rare syndrome, there are hundreds of human congenital dysmorphologies of the skeleton, some of which might involve defects in this protein trafficking pathway. Knapik's model may provide insights into these disorders. "No craniofacial or skeletal deformities one of the most prominent human syndrome...News tips from the Journal of Neuroscience
... The story has lent its name, "Ondine's curse," to congenital central hypoventilation syndrome (CCHS), a condition in which individuals sometimes stop breathing in their sleep. Because mutations in the transcription factor Phox2b are associated with the syndrome, Stornetta et al. examined the anatomical and fun...A valuable fly for research into disease
...hmias and cardiac failure: the Drosophila model of congenital heart disease" will highlight the latest results in this field....Breakthrough by MUHC researcher has major implications
...Leber Congenital Amaurosis), the commonest form of congenital blindness. "This discovery represents a significant advance in the fight against this debilitating condition." says Dr. Koenekoop, Director of the McGill Ocular Genetics Centre at the MUHC and Associate Professor in Ophthalmology, Human Genetics at M...Leveling the field for babies with persistent pulmonary hypertension
...ion as well as aspirating waste products in utero, congenital heart disease and congenital diaphragmatic hernia. Dr. Black's focus is the babies whose vessels have become thick-walled, infle...Gene therapy for inherited childhood blindness tested in mice
...e inherited childhood blindness-a variant of Leber congenital amaurosis-which is caused by mutations in a gene active in the retina, retinal pigment epithelium-specific protein, 65 kDa (RPE65). Injection of normal Rpe65 into the retina of mice deficient in Rpe65 led to expression of the protein product of Rpe...Children's Hospital Boston presents at the 2006 American Academy of Pediatrics National Conference
..., correcting a life-threatening condition known as congenital diaphragmatic hernia. The technique has proven successful in animals, and Drs. Kunisaki and Fauza now show that the cells can be grown reliably and safely without the need for animal serum bringing them a step closer to being able to study the techn...Research could lead to new treatments for birth defects
...eft lip and palate remains the most common form of congenital abnormality, affecting one in 1,000 babies in the UK, Treacher Collins syndrome is a relatively rare genetic disorder affecting one in 50,000 individuals. "We identified the gene associated with this disorder some time ago but we have now establish...JCI table of contents: Nov. 1, 2006
...ailure of the DA to close after birth results in a congenital heart condition known as patent DA (PDA), a condition that is a major problem for premature babies. Although the soluble factor prostaglandin E (PGE) is required to keep the DA open during fetal life, mice lacking the PGE receptor EP4 develop fatal P...Pourqui lab identifies genes involved in formation of vertebral precursors
...or can cause crippling diseases in humans, such as congenital scoliosis," said Dr. Dequeant. "Our work identified many novel genes associated to the oscillator whose mutation could lead to such disease."...Getting to the heart of the heart
... organ to develop, and the one most susceptible to congenital defects. They also bring researchers a step closer to being able to regenerate tissues to repair congenital heart defects in children and damage caused by heart attacks in adults. The two laboratories are ...Technology helps predict outcome of pediatric heart surgery
... lower chamber. Considered one of the most complex congenital heart defects, a single-ventricle heart often leads to congestive heart failure if not repaired. Patients with this defect often undergo multiple surgeries to reconfigure the pulmonary and systemic systems in operations called Fontan repairs, a rec......n syndrome is the most common single gene cause of congenital heart disease," explains co-senior author Benjamin Neel, MD, PhD, Director of the Division of Cancer Biology at BIDMC and professor of medicine at Harvard Medical School (HMS). "Although previous work had identified mutations in the PTPN11 gene as...