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.

Pharmacy graduate awarded national recognition for pioneering research in genetics

A young pharmacy graduate has been awarded national recognition for her pioneering research in the field of genetics which has the potential to treat diseases such as cancer and Parkinson's.

19 Oct 2010

Research may pave way to cure cystic fibrosis

A University of Missouri researcher believes his latest work moves scientists closer to a cure for cystic fibrosis, one of the world's most common fatal genetic diseases.

13 Oct 2010

BioRx receives limited distribution rights from Baxter for AATD drug GLASSIA

BioRx, a specialty pharmacy company, has received limited distribution rights from Baxter International Inc. for a new drug, GLASSIA™ [Alpha 1-Proteinase Inhibitor (Human)], the first and only liquid, ready-to-use treatment for alpha-1 antitrypsin deficiency (AATD) in the United States. AATD is a genetic disorder that causes low levels of alpha 1-antitrypsin, resulting in emphysema. AATD is also referred to as "genetic" or "congenital" emphysema.

From Baxter International Inc. 13 Oct 2010

Kennedy Krieger Institute launches phase II clinical trial to investigate Revatio for DMD treatment

Kennedy Krieger Institute announced today the launch of a first‐of‐its‐kind, phase II clinical trial to investigate a treatment for heart disease in individuals with Duchenne muscular dystrophy (DMD).

13 Oct 2010

ERYtech Pharma, Genzyme enter collaboration to develop novel therapeutic enzyme formulation

ERYtech Pharma is pleased to announce it has signed a collaborative research agreement with Genzyme Corporation to explore the feasibility of developing a novel therapeutic enzyme formulation using ERYtech's proprietary technology.

13 Oct 2010

Genentech initiates GDC-0449 Phase II clinical trial in BCC patients

Curis, Inc. a drug development company seeking to develop next generation targeted small molecule drug candidates for cancer treatment, today announced that its collaborator Genentech, a member of the Roche Group, has initiated a Phase II clinical trial of GDC-0449, an orally-administered small molecule Hedgehog Pathway Inhibitor, as a single-agent therapy for patients with operable basal cell carcinoma (BCC).

11 Oct 2010

Scientists identify molecular mechanism of muscle stem cell differentiation

Under normal circumstances, adult stem cells reside in muscle tissue, where they can differentiate into a number of different cell types. After an injury (or even a tough workout), muscles are inflamed as cells and molecules flood the area to control damage and begin repairs. When called upon to replace muscle tissue damaged by injury or genetic disease, some muscle stem cells differentiate, becoming new muscle cells, while others make more stem cells. At Sanford-Burnham Medical Research Institute (Sanford-Burnham), a team of scientists led by Pier Lorenzo Puri, M.D., Ph.D., recently uncovered the molecular messengers that translate inflammatory signals into the genetic changes that tell muscle stem cells to differentiate.

11 Oct 2010

Cortex secures patent rights for combined use of AMPAKINE and mGluR5 compounds for Fragile X syndrome treatment

Cortex Pharmaceuticals, Inc. announced that the rights to a published patent application entitled, "Pharmacological Modulation of Positive AMPA Receptor Modulator Effects on Neurotrophin Expression", has been licensed exclusively to Cortex from the University of California.

7 Oct 2010

Patients with muscular dystrophy mount immune response to dystophin protein prior to gene therapy: Study

A clinical trial designed to replace the genetic defect causing the most common form of muscular dystrophy has uncovered an unexpected aspect of the disease. The trial, based on therapy designed by scientists at the University of North Carolina at Chapel Hill School of Medicine, showed that some patients mount an immune response to the dystrophin protein even before they have received the gene therapy.

7 Oct 2010

RHUCIN clinical trial results published in JACI journal

Santarus, Inc., a specialty biopharmaceutical company, today announced the publication of an integrated analysis of two randomized placebo-controlled clinical trials with RHUCIN (recombinant human C1 inhibitor, or rhC1INH), in the October issue of the peer reviewed Journal of Allergy and Clinical Immunology (JACI).

5 Oct 2010

Otsuka opens Canadian operations

Otsuka Canada Pharmaceutical Inc. has opened its first Canadian office, in the Montreal suburb of Saint-Laurent. This marks a major milestone in the continued growth of Otsuka in North America.

4 Oct 2010

Thomas Jefferson University Hospital commences live donor liver transplant program

The Division of Transplantation in the Department of Surgery at Thomas Jefferson University Hospital (TJUH) has started a live donor liver transplant program. Live donor liver transplantation (LDLT) is a procedure in which a living person donates a portion of his or her liver to another person. Combined, the two operations typically take about 12 hours. Since the program began in summer 2010, three patients and their donors have successfully undergone the procedure.

4 Oct 2010

New edition of Sturge-Weber Syndrome textbook published

Eleven years after the first edition, a new edition of the Sturge-Weber Syndrome textbook has been published by the Sturge-Weber Foundation in New Jersey. Co-author E. Steve Roach, MD, is chief of Neurology and vice-chair of Pediatrics at Nationwide Children's Hospital.

4 Oct 2010

NIH awards Scripps Research grants to study the mechanisms of protein complex

For Immediate Release -Scripps Research Institute scientists have been awarded approximately $65 million in four five-year grants as part of the National Institutes of Health's (NIH) latest round of structural biology funding. The projects will focus on determining the shapes and functions of proteins and protein complexes that are important in biology and medicine.

4 Oct 2010

Stem cell research breakthrough

Australian researchers have grown new human stem cells outside the body and this may provide new hope to cancer patients and those with genetic disorders. The team found a way to manipulate the environment of blood-forming stem cells to make them multiply.

3 Oct 2010

Center for Excellence in Sickle Cell Disease established by Vanderbilt and Meharry

A Vanderbilt-Meharry Center for Excellence in Sickle Cell Disease has been established by Vanderbilt University Medical Center and Meharry Medical College. The Center will seek to bring high quality care to people with sickle cell disease (SCD) that is seamless and lifelong.

1 Oct 2010

Circadian partners with Cincinnati Children's Hospital to develop blood test diagnostic for LAM, a serious lung disease

Circadian Technologies (ASX.CIR) has announced today that it has partnered with Cincinnati Children’s Hospital Medical Centre (CCHMC) to develop and market a blood test to diagnose LAM, a serious lung disease that strikes women, usually in their child bearing years.

29 Sep 2010

Legislation to help speed research for cystic fibrosis and other rare diseases

Today the U.S. House of Representatives passed the "Improving Access to Clinical Trials Act" (I-ACT), in a victory for the Cystic Fibrosis Foundation, its advocates and 120 other health advocacy organizations.

24 Sep 2010

Past exposure to pathogens leads to disease resistance spreading through populations

A study by researchers at Royal Holloway, University of London, University College London and Oxford University, has found that a genetic variant which reduces the chance of contracting diseases such as tuberculosis and leprosy is more prevalent in populations with long histories of urban living.

24 Sep 2010

Scientists identify genetic variants that increase asthma susceptibility

An international study looking at DNA from over 26,000 people has identified several genetic variants that substantially increase susceptibility to asthma in the population. The findings, published in the New England Journal of Medicine, will help scientists to focus their efforts to develop better therapies for the illness.

23 Sep 2010

Genetic Disorder News and Research

Further Reading

Pharmacy graduate awarded national recognition for pioneering research in genetics

Research may pave way to cure cystic fibrosis

BioRx receives limited distribution rights from Baxter for AATD drug GLASSIA

Kennedy Krieger Institute launches phase II clinical trial to investigate Revatio for DMD treatment

ERYtech Pharma, Genzyme enter collaboration to develop novel therapeutic enzyme formulation

Genentech initiates GDC-0449 Phase II clinical trial in BCC patients

Scientists identify molecular mechanism of muscle stem cell differentiation

Cortex secures patent rights for combined use of AMPAKINE and mGluR5 compounds for Fragile X syndrome treatment

Patients with muscular dystrophy mount immune response to dystophin protein prior to gene therapy: Study

RHUCIN clinical trial results published in JACI journal

Otsuka opens Canadian operations

Thomas Jefferson University Hospital commences live donor liver transplant program

New edition of Sturge-Weber Syndrome textbook published

NIH awards Scripps Research grants to study the mechanisms of protein complex

Stem cell research breakthrough

Center for Excellence in Sickle Cell Disease established by Vanderbilt and Meharry

Circadian partners with Cincinnati Children's Hospital to develop blood test diagnostic for LAM, a serious lung disease

Legislation to help speed research for cystic fibrosis and other rare diseases

Past exposure to pathogens leads to disease resistance spreading through populations

Scientists identify genetic variants that increase asthma susceptibility

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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