JCI online early table of contents: July 1, 2008

... of its parents (these mutations are said to be recessive as if only one mutated gene is inherited the baby ... To better understand the differences between the recessive and dominant mutations that cause congenital ... with congenital hyperinsulinism caused by recessive mutations. Indeed, there were a large number of ...

Years-Long Search Unlocks Deadly Genetic Disease

... give the disease a more specific name: autosomal recessive spinal muscular atrophy (SMA). SMA is a ... not a genetics person, but I know that autosomal recessive means that both mothers and fathers have to be ... of us would have married somebody with the same recessive gene and our two mothers and our grandmother? I ...

Australian team reveals world-first discovery in a 'floppy baby' syndrome

... for a mouse." Dr Nowak said the team was able to cure the mice with the recessive form of the genetic condition by replacing missing skeletal muscle actin ... diseases which affect thousands of families worldwide. Children with recessive muscle actin diseases have no skeletal muscle actin because of mutations ...

Genes Yield More Clues to Schizophrenia

... 81 percent of schizophrenia patients in the study had at least one of the recessive markers, compared to 45 percent of those in the control group. Almost half the schizophrenia patients had two or more recessive markers, compared to 11 percent of those in the control group. More ...

Developing gene therapy to fight blindness

... (RP). Their work is being funded in part by a $1.5 million grant from the Prince Salman Center for Disability Research in Saudi Arabia, where the recessive gene mutation that leads to the eye disease RP has been found in children from several families. The study is being led by Kang Zhang, MD, PhD, ...

Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening

... was discovered two decades ago this year, scientists have acquired significant insights into the genetics of CF, one of the most common autosomal recessive genetic disorders," said Charles (Buck) Strom, M.D., Ph.D., medical director of the genetic testing center of Quest Diagnostics Nichols Institute, ...

Scientists identify new congenital neutropenia syndrome and causative gene mutation

... focused on five children of Turkish descent, four of whom were known to be related; the children did not have identified mutations but had recessive SCN (i.e., the children inherited mutations from both of their parents, who each carried one mutated gene but were themselves unaffected). The ...

Bone Marrow-Derived Stem Cells May Offer Novel Therapeutic Option for Skin Disorder

... blistering on touch, akin to third degree burns. While the disease is often lethal in the neonatal period, more severe forms of the disease, such as recessive dystrophic EB (referred to as RDEB), can lead to years of painful blistering and mutilating scarring. The condition is caused by significantly ...

Bone marrow-derived stem cells may offer novel therapeutic option for skin disorder

... on touch, akin to third degree burns. While the disease is often lethal in the neonatal period, more severe forms of the disease, such as recessive dystrophic EB (referred to as RDEB), can lead to years of painful blistering and mutilating scarring. The condition is caused by significantly ...

U of M sets course for cure of fatal childhood skin disease

... of Minnesota and University of Minnesota Children's Hospital, Fairview have set the path to a cure for a young boy's fatal genetic skin disease, recessive dystrophic epidermolysis bullosa (RDEB), by using a cord blood and bone marrow transplant. Nate Liao, a 25-month-old from Clarksburg, N.J., underwent ...

Kristin Chenoweth to Perform Benefit Concert for 3 Angels Memorial Fund titled, 'Kristin Chenoweth, This One's Personal: A Concert to Stop ACD'

... with it. Prior to Lincoln's death there were scarcely more than 114 cases documented in medical literature. ACD was believed to be linked to recessive genes found in both parents and Craig and his previous wife's experience of losing two children seemed to confirm this. Years later, Craig and NiCole ...

Function of molecular switch pinpointed in severe congenital neutropenia

... their previous research that identified a family of SCN patients, all of whom had the GFI1N382S mutation. SNC is a rare inherited autosomal recessive disease. The current treatment for SCN includes recombinant Granulocyte-colony stimulating factor (GCSF), which increases the formation and ...

Chemical chaperone could open door to treatment of neurological disorder

... readily with chemical compounds able to compensate for the effect of the disease's underlying genetic mutation. Niemann-Pick type C disease is a recessive inherited trait that can originate in one of more than 200 different mutations in the NPC1 gene, which lies on chromosome 18. The mutations lead to ...

Genetic differences point to ethnic and racial disparities in colorectal cancer risk

... colorectal cancer in Asian, and possibly in other groups except Latinos warrants further examination, Garza says. Normally, if one carries the recessive TT which means reduced enzyme activity, you would expect a higher risk of developing colorectal cancer; however, the opposite is true, she said. ...

U of M performs first systemic therapy for fatal childhood disease

... University of Minnesota Childrens Hospital, Fairview physicians have performed the first bone marrow and cord blood transplant to treat recessive dystrophic epidermolysis bullosa (RDEB). Children with RDEB lack a protein that anchors skin to the body, resulting in fragile skin that sloughs ...

Researchers Discovered the Gene Responsible for Brittle Bone Disease

... that mutations in the CRTAP gene accounted for a recessive form of the disorder--requiring two copies of the ... hypothesis was that there must be one or more recessive genes causing something that looked like OI," she ... one normal CRTAP gene, the classical pattern of recessive inheritance. Dr. Marini added that, on the basis ...

New Diagnostic Tool Uncovered Gene Expression Patterns in Recessive Genetic Disorders

... for their work, Cheung and Ewens used a rare recessive disease known as Nijmegen breakage syndrome ... developing diagnostic tests for carriers of other recessive genetic disorders. Even though most recessive diseases are rare, many individuals are carriers ...

Chronic Kidney Disease Related To Mutant Gene

... 'This is the first report of infants with two mutations in a recessive gene for steroid-resistant nephrotic syndrome who nevertheless responded ... was left with DNA from 12 children with the disease. All 12 had inherited recessive mutations in PLCE1 from both parents. None of the seven different PLCE1 ...

New Gene Discovery Raises Hope for Childhood Blindness Cure

... our findings, together with the recently announced clinical trials, hold great promise." Mutations in LCA5 are comparatively rare. As it is a recessive gene, a child would need to be carrying two copies of the gene to develop LCA, one from each parent. However, the disorder is more widespread within ...

Gene Mutation Linked With Risks of Stroke

... your risks of getting a stroke// double. The gene in question is a specific variation for hereditary hemochromatosis. This is an autosomal recessive disease associated with increased iron accumulation, which affects how the body metabolizes iron, which results an iron build-up in the liver. ...

Genetic susceptibility in viral encephalitis

... these findings extend to neurons, they provide a plausible mechanism for herpes simplex encephalitis. "We and our colleagues have identified recessive UNC-93B deficiency as a genetic etiology of herpes simplex encephalitis in otherwise healtalpha, ihy patients," said Professor Bruce Beutler, M.D., ...

Rare Nerve Disease Causing Gene Identified

... leads to the build up of iron, which incidentally is also seen in conditions like Alzheimer's and Parkinson's. Both these diseases are due to recessive traits, meaning that both parents must contribute the defective gene to the child, and currently there is neither cure, nor any standard treatment ...

A Mother Passes On A Rare, Terminal Brain Disease To Her Three Children

... lose sight, hearing, and the ability to walk or talk and most die before adulthood. Mrs. Smith was told that the boys inherited the disease through a recessive gene that she had been carrying all her life without knowing it. Shocked and anguished Mrs. Smith has said: ‘we can't believe this is ....

Eye Diseases Diagnosed Through Genetical Testing

... array, the first technology to screen simultaneously for mutations in multiple genes on a single platform. A patient with the autosomal recessive form of the disease (arRP) has inherited one gene from each parent, neither of whom is affected by RP. It is nearly impossible to identify which form ...