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.

Correlagen Diagnostics to develop diagnostic tests on the Helicos Genetic Analysis Platform

Helicos BioSciences Corporation (NASDAQ: HLCS) today announced the sale of a system and a scientific collaboration with Correlagen Diagnostics Inc., a leading provider of genetic tests for disease diagnosis.

28 Sep 2009

European Commission grants conditional marketing authorization for Gilead's Cayston

Gilead Sciences, Inc. announced today that the European Commission has granted conditional marketing authorization for Cayston® 75 mg powder and solvent for nebuliser solution (aztreonam lysine) for the suppressive therapy of chronic pulmonary infections due to Pseudomonas aeruginosa (P. aeruginosa) in patients with cystic fibrosis (CF) aged 18 years and older.

28 Sep 2009

Correlagen to use Helicos Genetic Analysis System for diagnosing genetic disorders

Correlagen Diagnostics Inc., a leading provider of genetic testing for disease diagnosis, today announced the acquisition of a system from and a scientific collaboration with Helicos BioSciences Corporation.

28 Sep 2009

A 2,000-mile scooter journey to raise cystic fibrosis awareness

Emily Schaller, a 27-year-old drummer with cystic fibrosis (CF), begins a 2,000-mile journey today aboard a Vespa scooter -- riding from Chicago to Burbank, California, in her quest to get on "The Ellen DeGeneres Show."

22 Sep 2009

'Pathway to a Cure' walk event in California

Satellite Healthcare, one of the nation's first and leading providers of kidney dialysis services and a major sponsor of nephrology research, today announced their sponsorship of The Polycystic Kidney Disease Foundation's "Pathway to a Cure" walk event in California's capital of Sacramento.

18 Sep 2009

SEQUENOM's first laboratory developed cystic fibrosis test launched

SEQUENOM, Inc. today announced that the company's first laboratory developed test, the SensiGene(TM) Cystic Fibrosis (CF) Carrier Screening test, has been launched.

18 Sep 2009

Protein aggregation is linked to many conformational diseases

Researchers at the Department of Biochemistry and Molecular Biology of Universitat Autònoma de Barcelona (UAB) have revealed the process by which proteins with a tendency to cause conformational diseases such as amyotrophic lateral sclerosis, familial amyloidotic polyneuropathy, familial amyloidotic cardiomyopathy, etc. finally end up causing them.

17 Sep 2009

Santaris Pharma establishes its operations in the U.S.

Santaris Pharma A/S, a privately-held biopharmaceutical company focused on developing RNA-based drugs targeted to disease-related mRNAs and microRNAs, today announced it has established operations in the United States. Internally and through its partners, the Company has a robust drug development pipeline including programs to treat metabolic disorders, infectious and inflammatory diseases, cancer and rare genetic disorders.

16 Sep 2009

Legislation grants improve research and employment initiatives in Indiana University medical campus

Indiana University School of Medicine scientists have received more than $12 million in grants funded by the federal economic stimulus legislation, funding that has bolstered both research initiatives and research employment on the medical center campus.

16 Sep 2009

Enobia Pharma's clinical study of ENB-0040 for treating hypophosphatasia provides positive results

Enobia Pharma today announced positive data from a clinical study of ENB-0040, a bone targeted enzyme replacement therapy, under investigation for the treatment of hypophosphatasia (HPP). After six months of treatment with ENB-0040, four of five severely affected patients showed marked improvements in bone mineralization, correction of skeletal defects, better respiratory function, including weaning from assisted ventilation, and cognitive and motor development.

14 Sep 2009

Phase 3 trial of ataluren commences

PTC Therapeutics, Inc. (PTC) today announced the initiation of a Phase 3 trial of ataluren (formerly PTC124(R)), an investigational protein restoration therapy in patients with nonsense mutation cystic fibrosis (nmCF).

11 Sep 2009

Improving childhood immunization campaigns could reduce sickle-cell deaths in Africa, Study finds

By offering all children in Africa vaccines that protect against bacterial infections, researchers say the number of deaths among children living with sickle-cell anemia could be reduced, Reuters reports. An estimated 200,000 children in Africa annually are born with sickle-cell anemia, a genetic disease "in which red blood cells deform into a sickle shape and cluster, blocking blood flow and causing pain, vulnerability to infections and organ damage."

10 Sep 2009

Female insects control sperm storage to rule out genetic disorders

Scientists have found new evidence to explain how female insects can influence the father of their offspring, even after mating with up to ten males. A team from the University of Exeter has found that female crickets are able to control the amount of sperm that they store from each mate to select the best father for their young.

9 Sep 2009

Oxidative DNA damage: Primary cause of mutation

A study that tracked genetic mutations through the human equivalent of about 5,000 years has demonstrated for the first time that oxidative DNA damage is a primary cause of the process of mutation - the fuel for evolution but also a leading cause of aging, cancer and other diseases.

8 Sep 2009

FDA approves new xTAG Cystic Fibrosis 39 Kit v2 from Luminex

Luminex Corporation (NASDAQ: LMNX), the worldwide leader in multiplexed solutions, today announced that it has received 510(k) clearance from the U.S. Food and Drug Administration (FDA) for a new cystic fibrosis (CF) test: the xTAG® Cystic Fibrosis 39 Kit v2.

From Thermo Fisher Scientific Inc. 4 Sep 2009

New Marketing Authorization Application for Rhucin submitted to the EMEA by Pharming

Biotech company Pharming Group NV ("Pharming" or "the Company") (NYSE Euronext: PHARM) today announced that it has submitted the Marketing Authorization Application (MAA) for Rhucin for the treatment of acute attacks of Hereditary Angioedema (HAE) to the European Medicines Agency (EMEA).

3 Sep 2009

New gene therapy vector developed for transferring therapeutic DNA to a cell's nucleus

A research report featured on the cover of the September 2009 print issue of The FASEB Journal describes how Australian scientists developed a new gene therapy vector that uses the same machinery that viruses use to transport their cargo into our cells. As a result of this achievement, therapeutic DNA can be transferred to a cell's nucleus far more efficiently than in the past, raising hopes for more effective treatment of genetic disorders and some types of cancers.

1 Sep 2009

Study provides insights into genes that help maintain youthfulness of the skin

In the new print issue of Nature Genetics, scientists in Singapore and Germany report that mutations in the PYCR1 gene cause the rare genetic condition that results in premature skin aging and that is known as "wrinkly skin syndrome."

1 Sep 2009

NIH awards $3.5-million grant to Tay-Sachs Gene Therapy Consortium for research on fatal genetic disorders

In a victory for families who dug into their own pockets to fund new research, the National Institutes of Health has awarded a $3.5-million grant to the Boston-based Tay-Sachs Gene Therapy Consortium to prepare a gene therapy for human clinical trials in a bid to halt the fatal genetic disorder.

28 Aug 2009

Patients with Phenylketonuria face increased risk of developing severe neurological complications

Genetic researchers at Children's Memorial Hospital, Chicago, are aggressively identifying adult patients who suffer from the genetic disorder, Phenylketonuria (PKU), and are presenting those findings at the 11th International Congress of Inborn Errors of Metabolism in San Diego, August 29 through September 2.

26 Aug 2009

Genetic Disorder News and Research

Further Reading

Correlagen Diagnostics to develop diagnostic tests on the Helicos Genetic Analysis Platform

European Commission grants conditional marketing authorization for Gilead's Cayston

Correlagen to use Helicos Genetic Analysis System for diagnosing genetic disorders

A 2,000-mile scooter journey to raise cystic fibrosis awareness

'Pathway to a Cure' walk event in California

SEQUENOM's first laboratory developed cystic fibrosis test launched

Protein aggregation is linked to many conformational diseases

Santaris Pharma establishes its operations in the U.S.

Legislation grants improve research and employment initiatives in Indiana University medical campus

Enobia Pharma's clinical study of ENB-0040 for treating hypophosphatasia provides positive results

Phase 3 trial of ataluren commences

Improving childhood immunization campaigns could reduce sickle-cell deaths in Africa, Study finds

Female insects control sperm storage to rule out genetic disorders

Oxidative DNA damage: Primary cause of mutation

FDA approves new xTAG Cystic Fibrosis 39 Kit v2 from Luminex

New Marketing Authorization Application for Rhucin submitted to the EMEA by Pharming

New gene therapy vector developed for transferring therapeutic DNA to a cell's nucleus

Study provides insights into genes that help maintain youthfulness of the skin

NIH awards $3.5-million grant to Tay-Sachs Gene Therapy Consortium for research on fatal genetic disorders

Patients with Phenylketonuria face increased risk of developing severe neurological complications

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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