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.

IRIS announces product acquisition from BioMicro Systems

IRIS International, Inc., a leading manufacturer of automated in-vitro diagnostics systems and a provider of high value personalized medicine products and testing services, announced today that it has acquired the assets of a multi-purpose, bench-top instrument platform for automating highly repetitive, manual laboratory protocols for (F)ISH (fluorescence in-situ hybridization) testing and other slide-based cytogenetic applications.

30 Nov 2010

Study suggests less than 10% of UK adults with CAH receive specialist endocrine care

A new study suggests that less than 10% of the estimated 3,591 adults in the UK with the genetic condition congenital adrenal hyperplasia (CAH) receive specialist endocrine care, and that there is no standard treatment for these patients.

26 Nov 2010

Cord Blood America shares web site post on Thanksgiving Day

On this day before Thanksgiving, a day when our entire nation gives thanks for its blessing, Cord Blood America, Inc., the umbilical cord blood stem cell preservation company focused on bringing the life saving potential of stem cells to families nationwide and internationally, would like to share with its investors a post from its web site by Dr. Geoffrey O'Neill, CBAI Vice President, Operations.

24 Nov 2010

Alexion's Soliris Phase 2 clinical study for aHUS meets primary, secondary endpoints

Alexion Pharmaceuticals, Inc. announced today that a Phase 2 clinical study investigating Soliris (eculizumab) as a treatment for patients with atypical Hemolytic Uremic Syndrome (aHUS) who are resistant to plasma therapy met primary and key secondary endpoints with high levels of statistical and clinical significance, according to results presented today at the American Society of Nephrology (ASN) annual meeting in Denver.

21 Nov 2010

National Marrow Donor Program adopts IBM's WebSphere Lombardi Business Process Management software

IBM announced today that the National Marrow Donor Program® (NMDP) has adopted IBM's WebSphere Lombardi Business Process Management (BPM) software to help automate its donor and patient management process. Both processes are critical to facilitate the matching of donors to patients needing cellular transplants.

20 Nov 2010

VX-770 drug candidate improves lung function in people with cystic fibrosis

In a study published in this week's New England Journal of Medicine, treatment with a new drug candidate known as VX-770 resulted in improvements in lung function and markers of disease in a Phase 2 clinical trial of 39 people with cystic fibrosis (CF). There were no discontinuations due to adverse events in the study, and the frequency of adverse events was similar across the study groups.

18 Nov 2010

New investigational drug improves lung function in CF patients

An investigational drug targeting a defective protein that causes cystic fibrosis has been shown to improve lung function in a small study of CF patients, according to findings published Nov. 18, 2010, in the New England Journal of Medicine.

17 Nov 2010

Research on CBS protein may lead to new drug design for homocystinuria disorder

University of Michigan researchers have solved the structure of a protein that is integral to processes responsible for maintaining a healthy heart and nervous system.

17 Nov 2010

Epizyme announces publication of EZH2 enzyme for lymphoma in PNAS

Epizyme, Inc., a company leading the discovery and development of first-in-class, targeted cancer therapeutics against epigenetic targets, today announced the publication of breakthrough new research in the Proceedings of the National Academy of Sciences (USA). The discovery, centered on the epigenetic enzyme EZH2, illuminates a clear path for the translation of basic science into targeted therapies for the safe and effective treatment of specific forms of human lymphomas.

16 Nov 2010

Children's Hospital pediatric immunologist collaborates with European gene therapy researchers to study WAS syndrome

A pediatric immunologist at The Children's Hospital of Philadelphia collaborated with European gene therapy researchers who achieved marked clinical improvements in two young children with Wiskott-Aldrich syndrome, a very rare but often severe immunodeficiency disorder.

16 Nov 2010

OtoSCOPE method offers single-run genetic testing for hearing loss

Pinpointing the exact genetic cause of inherited deafness has always involved sequencing one gene at a time, a process that can take up to a year and cost roughly $1,000 per gene. It would cost around $75,000 to test all known deafness causing genes using this approach. Now University of Iowa researchers working with colleagues at Baylor College of Medicine have developed a test that can screen all of the genes known to cause deafness in a single run, in one to three months and for about $2,000.

16 Nov 2010

ViroPharma presents data on Cinryze C1 esterase inhibitor for HAE at ACAAI Meeting

ViroPharma Incorporated today announced data in four poster presentations and two oral presentations relating to Cinryze (C1 esterase inhibitor [human]) at the 2010 Annual Meeting of the American College of Allergy, Asthma & Immunology (ACAAI), November 11 through 16 in Phoenix, Ariz.

16 Nov 2010

New investigational drug is well tolerated in children with nmCF

PTC Therapeutics, Inc. today announced the publication of data from a Phase 2a clinical trial of ataluren in children with nonsense mutation cystic fibrosis (nmCF) in the American Journal of Respiratory and Critical Care Medicine.

15 Nov 2010

Talecris announces publication of A1PI studies for AAT deficiency in Respiratory Research journal

Talecris Biotherapeutics announced today the publication of combined data from two studies demonstrating that augmentation therapy with Alpha(1)-Proteinase Inhibitor (Human) (A1PI) significantly reduces lung tissue loss in patients with emphysema related to Alpha(1)-antitrypsin (AAT) deficiency.

15 Nov 2010

Researchers find link between genetic defect and sticky mucus in cystic fibrosis

An imbalance of salt and water in patients with cystic fibrosis makes their lungs clog up with sticky mucus that is prone to infection. The cause of the offending imbalance is a well-known genetic error, one that blocks the molecular expressway for tiny chloride ions to move across the surface of the lungs.

15 Nov 2010

Scientists unveil mechanism of liver regeneration

The liver's unique ability among organs to regenerate itself has been little understood. Now Weill Cornell Medical College scientists have shed light on how the liver restores itself by demonstrating that endothelial cells the cells that form the lining of blood vessels play a key role.

12 Nov 2010

Diabetic drug may retard growth of fluid-filled cysts in PKD: Research

Researchers report that a drug commonly used to treat diabetes may also retard the growth of fluid-filled cysts of the most common genetic disorder, polycystic kidney disease.

12 Nov 2010

Dietary intervention reduces emergence of diabetes-predictive autoantibodies by 50%

A Finnish study published in the November 11, 2010 issue of the New England Journal of Medicine confirms the hypothesis that infant feeding plays a role in the initiation of the disease process leading to type 1 diabetes in children carrying increased genetic disease risk.

11 Nov 2010

New 'magic bullet' can eradicate side effects of drug used to treat cystinosis

A 'magic bullet' designed by pharmaceutical scientists at an English university could eradicate the side effects of a drug used to treat a rare genetic disease. Researchers at the University of Sunderland have chemically modified a drug used to treat cystinosis a disease which occurs when the body's mechanism to remove excess cystine (an amino acid) breaks down, leading to kidney problems and eventually affecting other organs to remove unpleasant side effects such as nausea, vomiting, severe halitosis, body odour and a noxious taste.

11 Nov 2010

Innovative method for in-cell gene manipulation

A cross-disciplinary Small Medicine and Advanced Research Translation (SMART) team led by Prof. Dar-Bin Shieh of Institute of Oral Medicine in Medical College at National Cheng Kung University (NCKU), Tainan, Taiwan, has announced a breakthrough in the precision in-cell gene scission at pre-designed sequence sites using Artificial Targeting Light Activated Nano Scissors (ATLANS) and a custom build photonic device.

9 Nov 2010

Genetic Disorder News and Research

Further Reading

IRIS announces product acquisition from BioMicro Systems

Study suggests less than 10% of UK adults with CAH receive specialist endocrine care

Cord Blood America shares web site post on Thanksgiving Day

Alexion's Soliris Phase 2 clinical study for aHUS meets primary, secondary endpoints

National Marrow Donor Program adopts IBM's WebSphere Lombardi Business Process Management software

VX-770 drug candidate improves lung function in people with cystic fibrosis

New investigational drug improves lung function in CF patients

Research on CBS protein may lead to new drug design for homocystinuria disorder

Epizyme announces publication of EZH2 enzyme for lymphoma in PNAS

Children's Hospital pediatric immunologist collaborates with European gene therapy researchers to study WAS syndrome

OtoSCOPE method offers single-run genetic testing for hearing loss

ViroPharma presents data on Cinryze C1 esterase inhibitor for HAE at ACAAI Meeting

New investigational drug is well tolerated in children with nmCF

Talecris announces publication of A1PI studies for AAT deficiency in Respiratory Research journal

Researchers find link between genetic defect and sticky mucus in cystic fibrosis

Scientists unveil mechanism of liver regeneration

Diabetic drug may retard growth of fluid-filled cysts in PKD: Research

Dietary intervention reduces emergence of diabetes-predictive autoantibodies by 50%

New 'magic bullet' can eradicate side effects of drug used to treat cystinosis

Innovative method for in-cell gene manipulation

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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