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.

Licensing agreement to develop and commercialize potential treatment for Gaucher’s disease signed

Mintz, Levin, Cohn, Ferris, Glovsky and Popeo, P.C. represented Protalix (NYSE-Amex: PLX), a leading biopharmaceutical company, in its licensing agreement with Pfizer Inc. to develop and commercialize a potential treatment for Gaucher’s disease, a genetic disorder.

5 Dec 2009

New step in the proofreading process that helps maintain accuracy of DNA replication identified

Wayne State researchers have for the first time observed the movement of a single molecule of DNA polymerase as it incorporates nucleotides one by one. More significantly, they have identified a previously unknown step that they speculate is part of the proofreading process known to prevent the polymerase from producing cancer-causing mutations.

4 Dec 2009

Santaris Pharma's LNA technology based microRNA-targeted therapy holds promise for HCV

A study published online in this week's Science shows that SPC3649, a breakthrough microRNA-targeted therapy developed by Santaris Pharma A/S using its proprietary Locked Nucleic Acid (LNA) technology, holds promise as a novel treatment for patients infected with the Hepatitis C virus (HCV).

4 Dec 2009

ISIS-FXIRx and ISIS-SMNRx included in Isis Pharmaceuticals' development pipeline

Isis Pharmaceuticals, Inc. announced today that it has added two new drugs to its development pipeline, ISIS-FXIRx and ISIS-SMNRx.

4 Dec 2009

NHLBI awards stimulus funds for hemophilia drug research

PTC Therapeutics, Inc. (PTC) today announced the receipt of a $1 million Challenge Grant award from the National Heart, Lung, and Blood Institute (NHLBI) as part of the National Institutes of Health (NIH).

2 Dec 2009

FDA grants approval for Dyax' KALBITOR for treating HAE patients

Dyax Corp. announced today that the U.S. Food and Drug Administration (FDA) has granted approval for KALBITOR® (ecallantide) for the treatment of acute attacks of hereditary angioedema (HAE) in patients 16 years of age and older.

2 Dec 2009

Copper sequestering drug tetrathiomolybdate shown to be effective in treating Wilson disease

The copper sequestering drug tetrathiomolybdate (TM) has been shown in studies to be effective in the treatment of Wilson disease, a disease caused by an overload of copper, and certain metastatic cancers.

27 Nov 2009

FDA approves Berinert for treating HAE in adults and adolescents

Berinert®, a human C1 esterase inhibitor (C1-INH) for treating acute episodes of facial or abdominal hereditary angioedema (HAE) in adults and adolescents has obtained approval from the US Food and Drug Administration (FDA).

25 Nov 2009

CVS/pharmacy and Warner Home Video team up to raise critical funds for cystic fibrosis

The Cystic Fibrosis Foundation announced today that CVS/pharmacy and Warner Home Video will partner with the Foundation this holiday season to raise critical funds for cystic fibrosis through the sale of classic family movies.

25 Nov 2009

Worldwide collaboration leads to treatment for rare skin disorder

Researchers at Huntsman Cancer Institute, in collaboration with a worldwide group of physicians and scientists, have discovered a remarkable treatment for a rare, yet debilitating, skin condition.

25 Nov 2009

New initiative launched to take care of patients with sickle cell disease

The Medical College of Georgia is leading an initiative that could result in a paradigm shift in the care of patients with sickle cell disease.

23 Nov 2009

Amniotic fluid stem cells have potential to become specialized cell types, say researchers

For the first time, scientists have demonstrated that stem cells found in amniotic fluid meet an important test of potential to become specialized cell types, which suggests they may be useful for treating a wider array of diseases and conditions than scientists originally thought.

23 Nov 2009

EraGen Biosciences to have access to Illumina’s BeadXpress platform

EraGen Biosciences Inc., a developer of novel molecular reagents for the in-vitro diagnostics (IVD) market, and Illumina Inc., a global company that develops, manufactures and markets integrated systems for analysis of genetic variation and biological function, today announced the formation of a strategic partnership and the execution of non-exclusive licensing agreements.

From Illumina, Inc. 23 Nov 2009

Scientists use exome sequencing method to discover the cause of mendelian disorder

For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder.

20 Nov 2009

I-STEM team succeeds in recreating a whole epidermis from hES cells

Stem cell research is making great strides. This is yet again illustrated by a study carried out by the I-STEM Institute (I-STEM/ Inserm UEVE U861/AFM), published in the Lancet on 21 November 2009. The I-STEM team, directed by Marc Peschanski has just succeeded in recreating a whole epidermis from human embryonic stem cells.

20 Nov 2009

Scientists find how 4-HB is metabolized by the body

It's a naturally occurring brain chemical with an unwieldy name: 4-hydroxybutyrate (4-HB). Taken by mouth, it can be abused or used as a date-rape drug.

20 Nov 2009

Microarray analysis can identify chromosome abnormalities in children with Pitt-Hopkins syndrome

Researchers at Signature Genomic Laboratories, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities, recently showed that microarray analysis can identify small DNA alterations in individuals with Pitt-Hopkins syndrome, a rare and poorly characterized genetic disorder.

19 Nov 2009

Diagnosing patients with syndrome similar to neurofibromatosis type 1 may be difficult

An analysis of patients with a syndrome similar to the genetic disorder, neurofibromatosis type 1, indicates that diagnosis may be difficult because of shared clinical findings, such as certain pigmentary characteristics, according to a study in the November 18 issue of JAMA.

19 Nov 2009

IBM scientists work with Rizzoli Orthopedic Institute to use BioMIMS to treat genetic skeletal diseases

IBM ( IBM) announced today that its Research scientists are working with the Rizzoli Orthopedic Institute, in Bologna, Italy, to use information technology to better address treatment and research for rare genetic skeletal diseases.

18 Nov 2009

Titanium dioxide nanoparticles causes systemic genetic damage in mice, say researchers

Titanium dioxide (TiO2) nanoparticles, found in everything from cosmetics to sunscreen to paint to vitamins, caused systemic genetic damage in mice, according to a comprehensive study conducted by researchers at UCLA's Jonsson Comprehensive Cancer Center.

17 Nov 2009

Genetic Disorder News and Research

Further Reading

Licensing agreement to develop and commercialize potential treatment for Gaucher’s disease signed

New step in the proofreading process that helps maintain accuracy of DNA replication identified

Santaris Pharma's LNA technology based microRNA-targeted therapy holds promise for HCV

ISIS-FXIRx and ISIS-SMNRx included in Isis Pharmaceuticals' development pipeline

NHLBI awards stimulus funds for hemophilia drug research

FDA grants approval for Dyax' KALBITOR for treating HAE patients

Copper sequestering drug tetrathiomolybdate shown to be effective in treating Wilson disease

FDA approves Berinert for treating HAE in adults and adolescents

CVS/pharmacy and Warner Home Video team up to raise critical funds for cystic fibrosis

Worldwide collaboration leads to treatment for rare skin disorder

New initiative launched to take care of patients with sickle cell disease

Amniotic fluid stem cells have potential to become specialized cell types, say researchers

EraGen Biosciences to have access to Illumina’s BeadXpress platform

Scientists use exome sequencing method to discover the cause of mendelian disorder

I-STEM team succeeds in recreating a whole epidermis from hES cells

Scientists find how 4-HB is metabolized by the body

Microarray analysis can identify chromosome abnormalities in children with Pitt-Hopkins syndrome

Diagnosing patients with syndrome similar to neurofibromatosis type 1 may be difficult

IBM scientists work with Rizzoli Orthopedic Institute to use BioMIMS to treat genetic skeletal diseases

Titanium dioxide nanoparticles causes systemic genetic damage in mice, say researchers

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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