Gene Therapy Brings Hope to Children with Batten Disease

Batten disease is a tragically devastating disease so rare that only about 200 children around the world have it at any one time. One reason for its rareness is that it most often kills the stricken child before his or her 12th birthday. Also known as LINCL, or Late Infantile Neuronal Ceroid Lipofuscinosis, the genetic disease hinders the child’s brain cells’ ability to expel cellular waste material. The ever-expanding amount of cellular waste clogs the cell, becoming toxic, and eventually causing enough damage to kill the cells in the brain. Read more

Vision Improves with Gene Therapy for Congenital Eye Disease

Researchers at the University of Pennsylvania report success in restoring vision to three patients with LCA, or Leber congenital amaurosis, a group of inherited diseases that destroy light receptors in the retina. Affected individuals develop symptoms in childhood and progress to total blindness by the time they are in their twenties or thirties. Gene therapy improved eyesight in the three patients, ages 19, 26 and 26, taking part in the study. Read more

Could Schizophrenia Be Entirely Genetic?

The latest gene-scanning technology may have shed some much-desired light on a potential cause for schizophrenia, a mental disorder characterized by delusions and scrambled thought processes. The disease is believed to affect 1% of the population. Read more

Scientists Identify Hair Loss Gene

February 25, 2008 by MedHeadlines  
Filed under Genetic Diseases, Medical Research, Prevention

Hair loss is a common problem faced by both men and women. While it may not have health implications it does have self-esteem issues. Help may be on the way for some of those yearning for that full head of hair. After six years of research, an international research team headed by scientists at the University of Bonn have identified a gene that is responsible for a rare hereditary form of hair loss known as Hypotrichosis simplex.

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First Ever Drug for PKU

December 15, 2007 by MedHeadlines  
Filed under Children's Health, Genetic Diseases

phenylketonuria (PKU)Med Headlines - Phenylketonuria (PKU) is a genetic disorder that can lead to impaired neurological function causing mental retardation and seizures. Although it is one of a very few genetic disorders controlled by diet, dietary restrictions are dramatic and must be started soon after birth.  Unfortunately, until now, there have been no drugs given approval by the US Food and Drug Administration (FDA) for treatment of PKU. Read more

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