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.

Discovery of target that could ease spinal muscular atrophy symptoms

There is no cure for spinal muscular atrophy (SMA), a genetic disorder that causes the weakening of muscles and is the leading genetic cause of infant death, but University of Missouri researchers have discovered a new therapeutic target that improves deteriorating skeletal muscle tissue caused by SMA.

7 Jan 2009

Genomics in China

Ten years ago, the Chinese National Human Genome Center at Shanghai (South Center, hereafter) was established in the Zhangjiang HiTech Park of Pudong District in Shanghai.

7 Jan 2009

Laminin-111 shows potential for congenital muscular dystrophy

Current research suggests laminin, a protein that helps cells stick together, may lead to enhanced muscle repair in muscular dystrophy.

1 Jan 2009

Patient-derived induced stem cells retain disease traits

The dying cells - the same type lost in patients with the devastating neurological disease spinal muscular atrophy - confirmed that the University of Wisconsin-Madison stem cell biologist had recreated the hallmarks of a genetic disorder in the lab, using stem cells derived from a patient.

22 Dec 2008

Attitudes towards assisted reproduction and preimplantation genetic diagnosis

According to an international survey by the BBVA Foundation conducted this year, citizens in advanced societies view assisted reproduction techniques in general and in vitro fertilization in particular as firmly acceptable alternatives for people with fertility problems (over 7 points on an acceptance scale from 0 to 10 in twelve of the fifteen survey countries).

17 Dec 2008

New system of scoring IQ tests taken by children with fragile X syndrome

Parents of children with intellectual disabilities have long been frustrated by intelligence quotient (IQ) testing that tells them little to nothing about the long-term learning potential of their children.

16 Dec 2008

New system of scoring IQ tests benefits children with intellectual disabilities

Parents of children with intellectual disabilities have long been frustrated by IQ testing that tells them little to nothing about their children's long-term learning potential. That's because the tests are scored according to the mean performance of children without disabilities, so the raw scores of many intellectually disabled children are converted to the lowest normalized score: typically a zero.

15 Dec 2008

Carrier screening for spinal muscular atrophy should be offered to all couples

Carrier screening for spinal muscular atrophy (SMA) - a serious genetic disease affecting approximately 1 in 10,000 infants that causes progressive muscle weakness and death - should be made available to all families, according to a new practice guideline issued by the American College of Medical Genetics (ACMG).

10 Dec 2008

Merck Serono's Kuvan receives European marketing authorization

Merck Serono, a division of Merck KGaA, Darmstadt, Germany, today announced that the European Commission has granted marketing authorization for Kuvan(R) for the treatment of hyperphenylalaninemia (HPA) in phenylketonuria (PKU) or BH4 deficient patients.

10 Dec 2008

Discovery of groundbreaking technique for body to accept gene therapy

Researchers at Columbia University Medical Center and the State University of New York at Stony Brook (SUNY) have developed a groundbreaking technique to sneak therapeutic genes past the body's defenses, possibly clearing one of the largest hurdles to realizing the potentials of medically altering a patient's DNA.

5 Dec 2008

More evidence on why the Mediterranean diet is good for heart

Researchers have discovered one potential mechanism by which briefly cutting off, then restoring, blood flow to arteries prior to a heart attack lessens the damage caused, according to a study published today in the journal Cardiovascular Research.

2 Dec 2008

ViroPharma Inc. submits sBLA for Cinryze to treat acute attacks of hereditary angioedema

ViroPharma Inc. has announced that the company submitted a supplemental Biologics License Application (sBLA) to the U.S. Food and Drug Administration (FDA) for Cinryze C1 Inhibitor (human) as a treatment for acute attacks of hereditary angioedema (HAE).

1 Dec 2008

Condensin II proteins found to keep chromosomes apart when necessary

If chromosomes snuggle up too closely at the wrong times, the results can be genetic disaster.

28 Nov 2008

Defective calcium metabolism in nerve cells contributes to neurological disorder

Defective calcium metabolism in nerve cells may play a major role in a fatal genetic neurological disorder that resembles Huntington's disease, researchers at UT Southwestern Medical Center have found in a mouse study.

26 Nov 2008

Researchers discover how brain cells can survive a stroke

Brain researchers at the University of Oslo in Norway have penetrated deeply into the innermost secrets of the brain to find out how brain cells can survive a stroke.

26 Nov 2008

New advance in the treatment of sickle cell anaemia

Sickle cell anaemia is a genetic disease characterised by the sickling of red blood cells in patients suffering from hypoxia (around 100,000 cases in Europe and North America).

25 Nov 2008

Roche NimbleGen launches microarrays for analysis of DNA copy number variation

Roche NimbleGen, Inc. has launched NimbleGen Comparative Genomic Hybridization (CGH) microarrays in a 12x135K format for analysis of DNA copy number variation.

19 Nov 2008

Microarray analysis improves prenatal diagnosis

A "chip" or array that can quickly detect disorders such as Down syndrome or other diseases associated with chromosomal abnormalities proved an effective tool in prenatal diagnosis in a series of 300 cases at Baylor College of Medicine, said researchers in a report that appears in the current issue of the journal Prenatal Diagnosis.

17 Nov 2008

Kidney stones may increase risk for chronic kidney disease

Kidney stones may damage the kidneys and lead to chronic kidney disease (CKD), according to a paper being presented at the American Society of Nephrology's 41st Annual Meeting and Scientific Exposition in Philadelphia, Pennsylvania.

8 Nov 2008

Interaction between gene variants may alter brain function in schizophrenia

A collaborative study led by investigators from Massachusetts General Hospital (MGH) is giving what may be the first look at how interactions between genes underlie a key symptom of schizophrenia, impaired working memory.

8 Nov 2008