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.

Mutated cancer pathway studies identify therapeutic targets for congenital heart disease

Cross-disciplinary teams of scientists studying genetic pathways that are mutated in many forms of cancer, but which also cause certain forms of congenital heart disease - including hypertrophic cardiomyopathy, a thickening of the heart muscle that is the leading cause of sudden death in children and young adults -, have introduced these mutations into mice and successfully treated HCM in the lab.

22 Feb 2011

Pharming, Santarus begin RHUCIN Phase IIIb study in patients with Hereditary Angioedema

Specialty biopharmaceutical company Santarus, Inc. and biotech company Pharming Group NV (NYSE Euronext: PHARM) today announced that Pharming has begun an international, multicenter, randomized, placebo-controlled Phase IIIb clinical study evaluating the investigational drug RHUCIN for the treatment of acute attacks of angioedema in patients with Hereditary Angioedema.

22 Feb 2011

Depression doesn't decline with age in addiction-prone women

Unlike alcohol abuse problems and antisocial behavior, depression doesn't decline with age in addiction-prone women in their 30s and 40s - it continues to increase, a new study led by University of Michigan Health System researchers found.

18 Feb 2011

Rare bleeding disorder misdiagnosed

A rare bleeding disorder that can lead to life-threatening bleeding episodes is misdiagnosed in 15 per cent of cases according to findings from a new international research project led by a Queen's professor.

17 Feb 2011

Study sheds light on novel functions of certain PCSK enzymes

Recent studies conducted at the Institut de recherches cliniques de Montr-al on a group of PCSK enzymes could have a positive impact on health, from cholesterol to osteoporosis.

17 Feb 2011

The Children's Hospital of Philadelphia establishes Jeffrey Modell Endowed Chair in Pediatric Immunology Research

The Children's Hospital of Philadelphia today announced the establishment of the Jeffrey Modell Endowed Chair in Pediatric Immunology Research.

16 Feb 2011

AMT 2010 total net income increases to EUR 1.4 million

Amsterdam Molecular Therapeutics, a leader in the field of human gene therapy, today reported its results for the year to December 31, 2010.

16 Feb 2011

Rare heart defect reproduced in petri dish, hope for cure

U.S. researchers have created beating heart cells in the lab with the same heart defect using skin cells taken from children with a rare heart defect. This means they can now test new drugs in human cells instead of mice.

13 Feb 2011

First 7 stem cell lines grown at UMMS Human Stem Cell Bank ready for global distribution

The first seven stem cell lines grown and banked at the University of Massachusetts Medical School's Human Stem Cell Bank are ready for worldwide distribution to researchers working on discovering new therapeutic treatments for diseases such as cancer, juvenile diabetes, Alzheimer's and Parkinson's, among others.

11 Feb 2011

Patients with high blood pressure have benign endocrine tumours in adrenal gland: Research

High blood pressure may in some cases be caused by benign hormone-producing tumours of the adrenal cortex. A joint Swedish-American research effort has now uncovered a genetic cause behind the occurrence of such tumours. The findings were published today in the journal Science.

11 Feb 2011

Alexion acquires investigational therapy for MoCD Type A ultra-rare genetic disorder from Orphatec

Alexion Pharmaceuticals, Inc. announced that it has purchased patents and assets from Germany-based Orphatec Pharmaceuticals GmbH related to an investigational therapy for patients with molybdenum cofactor deficiency (MoCD) Type A, a devastating ultra-rare genetic disorder characterized by severe brain damage and rapid death in newborns.

10 Feb 2011

DNA sequencing of maternal blood plasma can accurately detect trisomy 21

In a study published online today in the American Journal of Obstetrics & Gynecology, researchers from the Sequenom Center for Molecular Medicine confirmed that DNA sequencing of maternal blood plasma could accurately detect trisomy 21.

10 Feb 2011

Scientists discover KCNH2 gene mutation in patients with long QT syndrome

Researchers from the Hospital Virgen de las Nieves of the University of Granada have identified the most frequent mutations in the gene KCNH2 in patients with long QT syndrome.

10 Feb 2011

Munich research team provides promising alternative to DNA-based procedures

Defects in the genome are the cause of many diseases. Gene therapy - direct replacement of mutant genes by intact DNA copies - offers a means of correcting such defects. Now a research team based at the Medical Center of the University of Munich, and led by Privatdozent Dr. Carsten Rudolph, has taken a new approach that avoids DNA delivery.

8 Feb 2011

UM researchers find genetic cause of retinitis pigmentosa

Researchers led by geneticists at the University of Miami Miller School of Medicine have identified a new gene that causes retinitis pigmentosa, a form of blindness, ending one South Florida family's nearly 20-year search for what caused three of their four children to lose their sight.

4 Feb 2011

Blood clotting protein could be used as 'biomarker' for mucopolysaccharide diseases

University of Manchester scientists have shown that a protein involved in blood clotting can be used to diagnose and subsequently monitor the treatment of a group of childhood genetic diseases.

3 Feb 2011

Losartan improves effectiveness of nanotherapeutics against cancer

Low doses of an inexpensive, FDA-approved hypertension medication may improve the results of nanotherapeutic approaches to cancer treatment. In a report in the early edition of Proceedings of the National Academy of Sciences, Massachusetts General Hospital (MGH) investigators describe experiments showing that the generic drug losartan, by modifying the network of collagen fibers that characterizes most solid tumors, improved the effectiveness of two nanotherapeutics against several types of cancer.

3 Feb 2011

Cedars-Sinai receives California Institute grant to develop new technique for specific diseases

A team of scientists from the Cedars-Sinai Regenerative Medicine Institute has been awarded a $1.9 million grant from the California Institute for Regenerative Medicine to fund development of a new technique to aid pharmaceutical discoveries for specific diseases.

3 Feb 2011

OPKO Health acquires CURNA

OPKO Health, has acquired CURNA, a privately held company based in Jupiter, Florida, engaged in the discovery of new drugs for the treatment of a wide variety of illnesses, such as cancer, heart disease, metabolic disorders and genetic anomalies.

1 Feb 2011

Cystic Fibrosis Canada hosts Kites in Flight celebration to raise awareness of CF

Cystic Fibrosis Canada (formerly known as the Canadian Cystic Fibrosis Foundation) is changing its look to increase awareness of the cause, and help Canadians with cystic fibrosis live longer, healthier lives.

29 Jan 2011

Genetic Disorder News and Research

Further Reading

Mutated cancer pathway studies identify therapeutic targets for congenital heart disease

Pharming, Santarus begin RHUCIN Phase IIIb study in patients with Hereditary Angioedema

Depression doesn't decline with age in addiction-prone women

Rare bleeding disorder misdiagnosed

Study sheds light on novel functions of certain PCSK enzymes

The Children's Hospital of Philadelphia establishes Jeffrey Modell Endowed Chair in Pediatric Immunology Research

AMT 2010 total net income increases to EUR 1.4 million

Rare heart defect reproduced in petri dish, hope for cure

First 7 stem cell lines grown at UMMS Human Stem Cell Bank ready for global distribution

Patients with high blood pressure have benign endocrine tumours in adrenal gland: Research

Alexion acquires investigational therapy for MoCD Type A ultra-rare genetic disorder from Orphatec

DNA sequencing of maternal blood plasma can accurately detect trisomy 21

Scientists discover KCNH2 gene mutation in patients with long QT syndrome

Munich research team provides promising alternative to DNA-based procedures

UM researchers find genetic cause of retinitis pigmentosa

Blood clotting protein could be used as 'biomarker' for mucopolysaccharide diseases

Losartan improves effectiveness of nanotherapeutics against cancer

Cedars-Sinai receives California Institute grant to develop new technique for specific diseases

OPKO Health acquires CURNA

Cystic Fibrosis Canada hosts Kites in Flight celebration to raise awareness of CF

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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