Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Researchers discuss combined approach to maximize benefits and minimize risks of stem cell therapy

Once placed into a patient's body, stem cells intended to treat or cure a disease could end up wreaking havoc simply because they are no longer under the control of the clinician.

22 May 2009

New imaging tool helps identify DNA patterns of cancer, genetic disorders

A new tool will help researchers identify the minute changes in DNA patterns that lead to cancer, Huntington's disease and a host of other genetic disorders.

19 May 2009

Saffron could stop blindness and cure eye disease

Italian scientists say they have found that saffron may hold the key to stopping vision loss as people age and in treating some eye diseases.

17 May 2009

New system to deliver siRNA into primary cells

In technology that promises to one day allow drug delivery to be tailored to an individual patient and a particular cancer tumor, researchers at the University of California, San Diego School of Medicine, have developed an efficient system for delivering siRNA into primary cells.

17 May 2009

In retinal disease, sight may depend on second sites

If two people have the same genetic disease, why would one person go blind in childhood but the other later in life or not at all? For a group of genetic diseases - so-called ciliary diseases that include Bardet-Biedl syndrome, Meckel-Gruber syndrome, and Joubert syndrome - the answer lies in one gene that is already linked to two of these diseases and also seems to increase the risk of progressive blindness in patients with other ciliary diseases. The findings are published online this week at Nature Genetics.

12 May 2009

Muscular dystrophy diagnosis delayed in boys

Boys show signs of Duchenne Muscular Dystrophy (DMD) for 2 ½ years before they obtain a diagnosis and disease-specific treatment, about the same length of delay children have endured for the past 20 years despite advances in genetic testing and treatment.

11 May 2009

First molecular-level numerical study of gene therapy

In a recent issue of The Journal of Chemical Physics , published by the American Institute of Physics (AIP), a group of researchers at the University of California, Berkeley and Los Alamos National Laboratory describe the first comprehensive, molecular-level numerical study of gene therapy.

29 Apr 2009

Dendrimers as synthetic gene vectors

29 Apr 2009

New hope for potential heart attack victims

Twenty percent of American deaths each year are caused by heart attack or angina, sometimes without any warning.

27 Apr 2009

Discovery shows that different parts of chromosomes can have very different evolutionary histories

A new study reveals that - contrary to decades of evolutionary thought - chromosome regions that are prone to breakage when new species are formed are a rich source of genetic variation.

23 Apr 2009

Another gene found for Rett syndrome

New research has revealed another gene for Rett syndrome which could lead to new treatments for the disorder.

22 Apr 2009

Discovery of nine new genes on X chromosome that, when knocked-out, lead to learning disabilities

The international team studied almost all X chromosome genes in 208 families with learning disabilities - the largest screen of this type ever reported.

20 Apr 2009

Gene therapy for muscular dystrophy a step closer

Researchers have cleared a safety hurdle in efforts to develop a gene therapy for a form of muscular dystrophy that disables patients by gradually weakening muscles near the hips and shoulders.

15 Apr 2009

Enzyme therapy with agalsidase alfa may slow the progression of kidney disease

For men with Fabry disease, enzyme replacement therapy (ERT) with agalsidase alfa slows deterioration of kidney function, reports a study in the online edition of the Journal of the American Society of Nephrology (JASN).

9 Apr 2009

Antibiotics could treat cystic fibrosis, other genetic diseases

By modifying the properties of the common antibiotic gentamicin, researchers at the Technion-Israel Institute of Technology have developed what could become an effective treatment for many human genetic diseases, including cystic fibrosis (CF), Duchenne muscular dystrophy, Usher Syndrome and numerous cancers.

8 Apr 2009

Discovery of gene linked to short-rib polydactyly syndrome

After 12 years of searching, UCLA scientists have tracked down the first known gene mutation responsible for a heartbreaking disorder that kills newborn babies.

1 Apr 2009

Bad mix of bacterial remnants and NOD2 gene lead to arthritis

Here's another reason to hate leftovers. A research study appearing in the April 2009 issue of the Journal of Leukocyte Biology sheds light on one cause of arthritis: bacteria.

1 Apr 2009

BioMarin receives notice of allowance for Kuvan patent

BioMarin Pharmaceutical Inc. has announced that it has received a notice from the United States Patent Office reporting allowance of claims covering once daily dosing methods for Kuvan (sapropterin dihydrochloride) in the treatment of phenylketonuria (PKU).

30 Mar 2009

Nanoparticles deliver gene therapy, killing tumors

Given that cancer is ultimately a genetic disease, it has long been the hope of researchers to use gene therapy to attack tumors where they might be most susceptible.

26 Mar 2009

Abnormal EKG can predict death in stroke patients

People who suffer an ischemic stroke and also have an abnormality in the heart's electrical cycle are at a higher risk of death within 90 days than people who do not have abnormal electrical activity at the time of emergency treatment, according to new research.

22 Mar 2009