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.

New VAAST software tool can identify disease-causing mutations in rare genetic disorders

Harnessing the new generation of rapid, highly accurate gene-sequencing techniques, a research team has identified the disease-causing mutation in a newly characterized rare genetic disease, by analyzing DNA from just a few individuals.

24 Jun 2011

AMT receives CHMP opinion on Glybera Marketing Authorisation Application

Amsterdam Molecular Therapeutics, a leader in the field of human gene therapy, today announced that it has received an opinion on its Marketing Authorisation Application (MAA) for Glybera as a potential therapy for Lipoprotein Lipase Deficiency.

24 Jun 2011

Oxytocin hormone holds promise for children with Prader-Willi syndrome

Prader-Willi syndrome is a rare genetic disorder which affects one child in 25,000. Children born with this syndrome have a range of complex neurological and developmental problems which continue into adult life. These can manifest as cognitive and behavioral difficulties, weight gain, problems in controlling their temper and attendant difficulties in socialization.

24 Jun 2011

Study: Dyslexia gene controls cilia in brain neurons

Scientists at Karolinska Institutet in Sweden have discovered that a gene linked to dyslexia has a surprising biological function: it controls cilia, the antenna-like projections that cells use to communicate.

20 Jun 2011

Miracle cures on the horizon for genetic disease

In a latest break through, scientists have found a new technique to alter the genetic code behind hundreds of diseases and this was hailed by U.S. scientists as a “miracle of modern medicine.” Genes responsible for devastating diseases can be corrected by controlling faulty messenger cells that are central to the body's protein production, researchers said Wednesday.

17 Jun 2011

ViroPharma receives European Centralized Marketing Authorization for Cinryze for treatment of HAE

ViroPharma Incorporated today announced that the European Commission has granted ViroPharma Centralized Marketing Authorization for Cinryze (C1 inhibitor [human]) in adults and adolescents with hereditary angioedema (HAE) for routine prevention, pre-procedure prevention and acute treatment of angioedema attacks.

16 Jun 2011

Cinryze data on hereditary angioedema presented at EAACI 2011

ViroPharma Incorporated today announced that data relating to Cinryze from nine accepted abstracts were presented as poster presentations at the 30th Congress of the European Academy of Allergy and Clinical Immunology (EAACI), June 11 through 15, in Istanbul, Turkey.

14 Jun 2011

Oncogene Aurora A may contribute to polycystic kidney disease

The Aurora A kinase may contribute to polycystic kidney disease (PKD) by inactivating a key calcium channel in kidney cells, according to a study in the June 13 issue of The Journal of Cell Biology.

13 Jun 2011

Each one of us receives 60 new mutations in our genome from parents

Each one of us receives approximately 60 new mutations in our genome from our parents. This striking value is reported in the first-ever direct measure of new mutations coming from mother and father in whole human genomes published today.

13 Jun 2011

Global gene therapy market to reach $300 million by 2015

The global gene therapy market is expected to grow to over $300 million by 2015, according to a new report available on companiesandmarkets.com. The gene therapy market will grow further driven by the human genome project, the increasing incidence of cancer and other critical diseases.

6 Jun 2011

Researchers receive CTSI Award for Translational Research in Maternal, Child, and Adolescent Health.

Patricia Dickson, MD, and Jennifer Yee, MD, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center (LA BioMed) researchers, will be honored on Thursday as recipients of the first UCLA Clinical and Translational Science Institute's (CTSI) Award for Translational Research in Maternal, Child, and Adolescent Health.

1 Jun 2011

Pre-implantation genetic diagnosis can avoid mother to child transmission of mtDNA disorders

Dutch researchers have developed a test which predicts which mothers at risk of passing on mitochondrial genetic disease to their children are likely to have a healthy baby.

30 May 2011

Bacteria that infect cystic fibrosis patients could help combat MRSA

A bacteria which infects people with cystic fibrosis could help combat other antibiotic-resistant microbes, according to a team from Cardiff and Warwick Universities.

27 May 2011

ViroPharma launches documentary film on hereditary angioedema

ViroPharma Incorporated today announced the launch of the documentary Swell, a twenty-five minute film that allows families dealing with the rare genetic swelling disease, hereditary angioedema, to share the challenges and triumphs of living with a chronic disorder.

27 May 2011

Researchers devise new genetic technique for IVF embryos

Researchers at the Johns Hopkins University School of Medicine have devised a new technique, which helps couples that are affected by or are carriers of genetic diseases have in vitro fertilized babies free of both the disease in question and other chromosomal abnormalities. The results were reported in the April issue of Fertility and Sterility.

24 May 2011

Scientists mimic dyskeratosis congenita through study of undifferentiated iPS cells

A rare genetic disease called dyskeratosis congenita, caused by the rapid shortening of telomeres, can be mimicked through the study of undifferentiated induced pluripotent stem cells, according to new findings from the Stanford University School of Medicine.

24 May 2011

Scientists discover genetic regions that affect severity of cystic fibrosis

A team of international researchers, including Case Western Reserve University School of Medicine, have discovered regions of the genome that affect the severity of the genetic disease cystic fibrosis, the most common lethal genetic disease affecting children in North America.

24 May 2011

New genetic testing technology for IVG embryos

23 May 2011

Sangamo announces presentations of ZFP Therapeutics data at ASGCT 2011

Sangamo BioSciences, Inc. announced today that data from clinical, preclinical and research-stage programs focused on the development of zinc finger DNA-binding protein Therapeutics were described in twenty presentations given by Sangamo scientists and collaborators at the 14th Annual Meeting of the American Society of Gene and Cell Therapy.

23 May 2011

New RHUCIN study data in acute HAE attacks presented at 7th C1 Inhibitor Deficiency Workshop

Santarus, Inc., a specialty biopharmaceutical company, today announced that new data from open-label studies evaluating the efficacy and safety of the investigational drug RHUCIN for the treatment of acute attacks of angioedema in patients with Hereditary Angioedema were presented at the 7th C1 Inhibitor Deficiency Workshop on May 20 - 22, 2011 in Budapest, Hungary.

23 May 2011