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.

U.S. Senate passes I-ACT to enable patients with rare disease to participate in clinical trials

The U.S. Senate last night passed the "Improving Access to Clinical Trials Act" (I-ACT), a bipartisan piece of legislation championed by the Cystic Fibrosis Foundation, its advocates and 120 other health advocacy organizations.The legislation enables patients with rare diseases to participate in clinical trials without losing eligibility for public healthcare benefits.

7 Aug 2010

ViroPharma announces data on safety, efficacy of Cinryze to treat acute angioedema attacks

ViroPharma Incorporated today announced that data from Phase 3 studies of Cinryze (C1 esterase inhibitor [human]) have been published in the August 5, 2010 issue of the New England Journal of Medicine. The paper entitled Nanofiltered C1 Inhibitor Concentrate for Treatment of Hereditary Angioedema by Dr. Bruce L. Zuraw et al. describes the safety and efficacy of Cinryze in treating and preventing attacks of hereditary angioedema. Cinryze is the first and only FDA-approved C1 esterase inhibitor therapy indicated for routine prophylaxis against angioedema attacks in adolescent and adult patients with hereditary angioedema (HAE), a rare, debilitating and potentially fatal disease; it is not approved by the FDA to treat acute angioedema attacks.

6 Aug 2010

Genzyme, Isis announce results of two mipomersen phase 3 studies

Genzyme Corp. and Isis Pharmaceuticals Inc. today announced results of two phase 3 studies of mipomersen in patients who had high cholesterol levels while on maximally tolerated lipid-lowering therapy. In the study of patients with severe hypercholesterolemia, mipomersen reduced LDL-C, the primary endpoint, by 36 percent compared with a 13 percent increase for placebo.

5 Aug 2010

Long-term exposure to valproate leads to bone loss: Study

Scientists are reporting a possible explanation for the bone loss that may occur following long-term use of a medicine widely used to treat epilepsy, bipolar disorder, and other conditions. The drug, valproate, appears to reduce the formation of two key proteins important for bone strength, they said. Their study, which offers a solution to a long-standing mystery, appears in ACS' monthly Journal of Proteome Research.

5 Aug 2010

BCM collaborates with Roche NimbleGen for high throughput exome capture technology

The Baylor College of Medicine Human Genome Sequencing Center has standardized its target enrichment human disease research studies on Roche NimbleGen Sequence Capture Exome technology. The Baylor HGSC will sequence over 5,000 exomes in the next two years to identify genetic variants underlying multiple human diseases and will employ NimbleGen SeqCap EZ Exome and customized NimbleGen exome designs as the exome capture technology of choice. More than 15 different diseases will be investigated by Baylor HGSC, including brain, liver, pancreatic, colon, ovarian and bladder cancers, heart disease, diabetes, autism, and other inherited diseases with the goal of better understanding causative mutations and their impact on these diseases.

4 Aug 2010

Taligen Therapeutics to highlight three pipeline candidates at XXIII ICW

Taligen Therapeutics, a biotechnology company developing therapies that regulate the complement system to treat inflammatory and immune diseases, today announced that preclinical data on three of its pipeline candidates will be highlighted at the XXIII International Complement Workshop taking place August 1-5, 2010, in New York City.

2 Aug 2010

Repligen receives three additional grants to develop HDAC inhibitors for neurodegenerative diseases

Repligen Corporation today announced that the Company has received three additional grants to support its research program to develop HDAC inhibitors for neurodegenerative diseases. Repligen has received $436,000 in research funding to support the ongoing development of histone deacetylase inhibitors for Friedreich's ataxia.

2 Aug 2010

Study implicates Fritz's role in human genetic disorders

Mutations in a gene known as "Fritz" may be responsible for causing human genetic disorders such as Bardet-Biedl syndrome, University of Texas at Austin developmental biologist John Wallingford and Duke University human geneticist and cell biologist Nicholas Katsanis have found.

31 Jul 2010

FDA lifts hold, allows Geron to proceed with Phase I clinical trial of GRNOPC1 in spinal cord injury

Geron Corporation announced today that the U.S. Food and Drug Administration (FDA) has notified the company that the clinical hold placed on Geron's Investigational New Drug (IND) application has been lifted and the company's Phase I clinical trial of GRNOPC1 in patients with acute spinal cord injury may proceed.

30 Jul 2010

Genetics research team discovers new recurrent translocations

A genetics research team based at The Children's Hospital of Philadelphia continues to discover recurrent translocations—places in which two chromosomes exchange pieces of themselves. As many as 1 in 600 persons carry balanced chromosome translocations, which involve no loss or gain of DNA. Most such people appear healthy, but may have a child with abnormal chromosome composition and disabilities resulting from disrupted, extra or missing copies of genes.

30 Jul 2010

Families with male breast cancer perceive as being at higher risk: Study

People with a family history of male breast cancer perceive themselves to be at higher risk of developing the disease than do patients with a family history of female breast cancer; however those with male breast cancer in their families are less likely to know about or seek genetic testing than those with a family history of female breast cancer, according to a study led by researchers at the University of Louisville's James Graham Brown Cancer Center.

30 Jul 2010

Researchers identify genetic mutation for Uner Tan Syndrome

A team of researchers from leading universities in Turkey and the United States have reported that they have identified the genetic mutation responsible for the Uner Tan Syndrome (UTS) using advanced genetic capture and sequencing technologies from Roche. The combined genomic technologies enabled the team of scientists to identify the causative mutation of this debilitating disease after years of mystery.

30 Jul 2010

Scientists identify new targets to develop treatment for HD

Scientists at the Buck Institute for Age Research have discovered that a particular family of enzymes are involved in the breakdown of proteins that modify the production of toxic fragments that lead to the pathology of Huntington's disease. These enzymes, matrix metalloproteinases, provide new targets for drug therapies for the disease - targets that have already been shown to respond to cancer drugs currently in clinical development.

29 Jul 2010

Scientists study mutant protein lump formation process to control brain cell death

Australian scientists have identified the behaviour of the mutant protein 'huntingtin' which leads to the fatal Huntington's disease providing potential targets to treat the disease, a University of Melbourne study reveals.

29 Jul 2010

Pain Therapeutics second-quarter collaboration revenue decreases to $0.1 million

Pain Therapeutics, Inc., a biopharmaceutical company, today reported second quarter financial results. Net loss for the quarter ended June 30, 2010 was $0.8 million, or $0.02 per share, compared to net loss of $34,000, or $0.00 per share, for the second quarter of 2009. Pain Therapeutics had cash, cash equivalents and marketable securities of $176.2 million, or about $4.14 cash per share, and no debt as of June 30, 2010.

28 Jul 2010

Choice between late-term abortion or keeping an unhealthy foetus

Most pregnant women whose foetus is proven to have a genetic abnormality choose to have an abortion, but reaching that decision is a painful, exhausting process for most of them. "The women's doubt, pain and sorrow make abortion more moral - in the eyes of society as well as her own," says Sølvi Marie Risøy, a researcher at the Stein Rokkan Centre for Social Studies, University of Bergen.

23 Jul 2010

Genomics researchers study role of protein in metabolic disorders, heart disease

Studying a protein already known to play an important role in type 2 diabetes and cancer, genomics researchers have discovered that it may have an even broader role in disease, particularly in other metabolic disorders and heart disease. In finding unsuspected links to other disease-related genes, the scientists may have identified future targets for drug treatments.

22 Jul 2010

TCF7L2 protein may play important role in heart disease, other metabolic disorders: Researchers

22 Jul 2010

Genzyme second-quarter revenue decreases to $1.08 billion

Genzyme Corp. today reported that second-quarter revenue was $1.08 billion, compared with $1.23 billion in the same period last year, reflecting limited shipments of Cerezyme® (imiglucerase for injection) and Fabrazyme® (agalsidase beta) due to product supply constraints in 2010. The company expects to be able to increase shipments of Cerezyme and Fabrazyme during the second half of the year.

21 Jul 2010

Epizyme publishes two new review papers on epigenetics

Epizyme, Inc., a company leading the discovery and development of first-in-class, targeted cancer therapeutics against epigenetic targets, announced today the publication of two new review papers in the area of epigenetics. Together, the articles provide an overview of the major epigenetic enzyme classes, as well as chemical biology approaches for discovering small molecule inhibitors of these epigenetic enzymes, and demonstrate Epizyme's scientific leadership in the area of epigenetics.

17 Jul 2010

Genetic Disorder News and Research

Further Reading

U.S. Senate passes I-ACT to enable patients with rare disease to participate in clinical trials

ViroPharma announces data on safety, efficacy of Cinryze to treat acute angioedema attacks

Genzyme, Isis announce results of two mipomersen phase 3 studies

Long-term exposure to valproate leads to bone loss: Study

BCM collaborates with Roche NimbleGen for high throughput exome capture technology

Taligen Therapeutics to highlight three pipeline candidates at XXIII ICW

Repligen receives three additional grants to develop HDAC inhibitors for neurodegenerative diseases

Study implicates Fritz's role in human genetic disorders

FDA lifts hold, allows Geron to proceed with Phase I clinical trial of GRNOPC1 in spinal cord injury

Genetics research team discovers new recurrent translocations

Families with male breast cancer perceive as being at higher risk: Study

Researchers identify genetic mutation for Uner Tan Syndrome

Scientists identify new targets to develop treatment for HD

Scientists study mutant protein lump formation process to control brain cell death

Pain Therapeutics second-quarter collaboration revenue decreases to $0.1 million

Choice between late-term abortion or keeping an unhealthy foetus

Genomics researchers study role of protein in metabolic disorders, heart disease

TCF7L2 protein may play important role in heart disease, other metabolic disorders: Researchers

Genzyme second-quarter revenue decreases to $1.08 billion

Epizyme publishes two new review papers on epigenetics

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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