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.

Scientists discover genetic cause of Quebec Platelet Disorder

For some Canadians, any cut such as from dental work or surgery can cause days or more of bleeding. Although they are not hemophiliacs, for some an ordinary bruise can balloon into the size of an orange.

4 Mar 2010

MHAUS introduces new MH Mock Drill Training Kit to better prepare for MH emergencies

The Malignant Hyperthermia Association of the United States introduces a new MH Mock Drill Training Kit for Operating Room Staff to better prepare for MH emergencies

4 Mar 2010

C1-INH replacement therapy effective for treating acute swelling attacks in HAE

C1-esterase inhibitor (C1-INH) concentrate is an effective, well-tolerated therapy that rapidly relieves acute swelling attacks and successive attacks at any body location in patients with hereditary angioedema (HAE), a rare and serious genetic disorder, according to data presented today at the 2010 American Academy of Allergy, Asthma & Immunology (AAAAI) Annual Meeting. Additional pharmacokinetic data presented at the meeting confirms that C1-INH concentrate has a longer half-life than other treatment options for HAE, which protects patients from rebound attacks.

2 Mar 2010

Patients with HAE experience prodromal symptoms before acute HAE attacks: Survey

Patients with hereditary angioedema (HAE) experience prodromal or early warning symptoms before nearly three-quarters of their HAE attacks, according to survey findings presented today at the 2010 American Academy of Allergy, Asthma & Immunology Annual Meeting.

2 Mar 2010

Determining personal risk for genetic disorders essential

Genetic diseases affect an estimated 12 million Americans, yet according to a survey of 1,000 people conducted by the Genetic Disease Foundation (GDF), while two-thirds of those surveyed were willing to and saw the benefits of undergoing genetic testing, close to 80 percent had never talked to their physician about genetic screening – an inconsistency that can have serious implications on a person's overall health and the health of their immediate family members.

1 Mar 2010

Reversing protein deficiency through gene therapy can improve SMA

Reversing a protein deficiency through gene therapy can correct motor function, restore nerve signals and improve survival in mice that serve as a model for the lethal childhood disorder spinal muscular atrophy, new research shows.

1 Mar 2010

Gaucher disease: FDA approves VPRIV

The U.S. Food and Drug Administration has approved velaglucerase alfa for injection (VPRIV) to treat children and adults with a form of the rare genetic disorder Gaucher disease.

26 Feb 2010

Rare Disease Day 2010: Alexion Pharmaceuticals joins NORD and EURORDIS to raise awareness

Alexion Pharmaceuticals, Inc., has joined the National Organization for Rare Disorders (NORD) and the European Organization for Rare Diseases (EURORDIS) in supporting the goals of the third annual Rare Disease Day, February 28, 2010.

26 Feb 2010

Deciphering babies' cries: Hope for new parents

Baby monitors of the future could translate infant cries, so that parents will know for certain whether their child is sleepy, hungry, needing a change, or in pain. Japanese scientists report details of a statistical computer program that can analyze a baby's crying in the International Journal of Biometrics.

25 Feb 2010

Genetic Disorder Tracker introduced by Guidepoint Global

Guidepoint Global, LLC, a leading primary research firm, today announced the launch of their Genetic Disorder Tracker, a monthly longitudinal data release that captures commercial trends, on a worldwide basis, associated with the treatment of eight rare genetic disorders: Gaucher's disease, Fabry's disease, PKU, MPS I (Hurler Syndrome), MPS II (Hunter Syndrome), MPS VI (Maroteaux-Lamy Syndrome), Niemann-Pick disease and Pompe disease.

25 Feb 2010

Research may lead to new therapeutic treatments for Huntington's disease

Huntington's disease (HD) is a cruel, hereditary condition that leads to severe physical and mental deterioration, psychiatric problems and eventually, death. Currently, there are no treatments to slow down or stop it. HD sufferers are born with the disease although they do not show symptoms until late in life.

24 Feb 2010

AMT announces full year 2009 results; reports modest decrease in operating expenses

Amsterdam Molecular Therapeutics, a leader in the field of human gene therapy, today reported its results for the year to December 31, 2009.

24 Feb 2010

Centric Health Resources and CHT to create sustainable healthcare system for Americans

St. Louis-based Centric Health Resources, Inc. joined the Center for Health Transformation (CHT) a high-impact collaboration of private and public sector leaders committed to creating a 21st Century Intelligent Health System that saves lives and money for all Americans.

23 Feb 2010

Genzyme announces fourth-quarter and full-year 2009 financial results

Genzyme Corp., a diversified, global biotechnology company, today announced fourth-quarter and full year 2009 financial results and provided 2010 guidance that reflects growth across its businesses and a focus on strengthening core areas of the company.

18 Feb 2010

BAC adds affinity resin for AAT purification to GE Healthcare’s range of custom designed media

BAC BV, the leading provider of antibody-based affinity purification technology, has extended its collaboration with GE Healthcare with the addition of a new bioprocess affinity chromatography ligand to GE Healthcare’s range of custom designed media. The latest addition to the range is an affinity resin for the purification of alpha-1 antitrypsin (AAT) from blood plasma, recombinant cell culture or transgenic sources. The new resin has been developed as part of GE Healthcare’s Custom Designed Media (CDM) programme and provides a new solution for AAT purification in the biopharmaceutical industry.

17 Feb 2010

Special issue reviews current state of science in fetal therapy

Repairing birth defects in the womb. Inserting a tiny laser into the mother's uterus to seal off an abnormal blood flow and save fetal twins. Advancing the science that may allow doctors to deliver cells or DNA to treat sickle cell anemia and other genetic diseases before birth.

17 Feb 2010

Sequenom CMM launches SensiGene Fetal Sex Determination test

Sequenom, Inc. today announced the launch of the SensiGene™ Fetal(XY) (Fetal Sex Determination) test by Sequenom's CAP accredited and CLIA-certified laboratory, Sequenom Center for Molecular Medicine (Sequenom CMM). This is the company's second laboratory developed test powered by its SEQureDx™ technology.

17 Feb 2010

IMPACT Awards acknowledge nonprofit organizations that provide access to healthcare for underserved

The GlaxoSmithKline 14th Annual IMPACT Awards target community-based nonprofits that provide access to healthcare for the underserved. Up to ten organizations in the Pennsylvania counties of Berks, Bucks, Chester, Delaware, Lancaster, Lehigh, Montgomery, and Philadelphia and the City of Camden, New Jersey, will be awarded $40,000 each.

16 Feb 2010

Researchers identify defective signaling pathway that contributes to the severity of cystic fibrosis

In a study that could lead to new therapeutic targets for patients with the cystic fibrosis, a research team from the University of California, San Diego School of Medicine has identified a defective signaling pathway that contributes to disease severity.

15 Feb 2010

Cancer drug could be effective for treating recurrent nose bleeds

Patients suffering from hereditary hemorrhagic telangiectasia (HHT), an inherited vascular condition characterized by profuse nosebleeds, may find hope in a cancer-fighting drug called bevacizumab, also known as Avastin.

12 Feb 2010

Genetic Disorder News and Research

Further Reading

Scientists discover genetic cause of Quebec Platelet Disorder

MHAUS introduces new MH Mock Drill Training Kit to better prepare for MH emergencies

C1-INH replacement therapy effective for treating acute swelling attacks in HAE

Patients with HAE experience prodromal symptoms before acute HAE attacks: Survey

Determining personal risk for genetic disorders essential

Reversing protein deficiency through gene therapy can improve SMA

Gaucher disease: FDA approves VPRIV

Rare Disease Day 2010: Alexion Pharmaceuticals joins NORD and EURORDIS to raise awareness

Deciphering babies' cries: Hope for new parents

Genetic Disorder Tracker introduced by Guidepoint Global

Research may lead to new therapeutic treatments for Huntington's disease

AMT announces full year 2009 results; reports modest decrease in operating expenses

Centric Health Resources and CHT to create sustainable healthcare system for Americans

Genzyme announces fourth-quarter and full-year 2009 financial results

BAC adds affinity resin for AAT purification to GE Healthcare’s range of custom designed media

Special issue reviews current state of science in fetal therapy

Sequenom CMM launches SensiGene Fetal Sex Determination test

IMPACT Awards acknowledge nonprofit organizations that provide access to healthcare for underserved

Researchers identify defective signaling pathway that contributes to the severity of cystic fibrosis

Cancer drug could be effective for treating recurrent nose bleeds

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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