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.

Current concepts and recent research findings on gene therapy for inner ear disorders

Gene therapy holds great potential for the treatment not only of genetic disorders, but also of many acquired diseases. This is as true for the inner ear as for any other organ. However, the technical challenges that must be overcome before gene therapy becomes more widely used are remarkable. In the inner ear the size, accessibility, delicacy and the involvement of many different cell types present unique conditions.

24 Apr 2010

Researchers to measure children with Down syndrome to develop new growth charts

Parents and doctors have known for a long time that children with Down syndrome tend to grow more slowly and are considerably shorter than most other children. But pediatricians needing to record growth milestones at regular office visits have an outdated set of growth charts based on data collected more than 25 years ago.

23 Apr 2010

StemCells to initiate second clinical trial of HuCNS-SC human neural stem cells in NCL

StemCells, Inc. announced today that it has submitted a protocol to the FDA for initiation of a second clinical trial of its proprietary HuCNS-SC human neural stem cells in neuronal ceroid lipofuscinosis, which is also often referred to as Batten disease.

22 Apr 2010

Exposure to dust after WTC collapse impairs ability to detect odors and sense irritants

Individuals involved in rescue, recovery, demolition, and clean-up after the World Trade Center (WTC) disaster on September 11, 2001, were exposed to a complex mixture of airborne smoke, dust, combustion gases, acid mists, and metal fumes. The impact of this exposure on responders' upper and lower respiratory function has been well documented, but little is known about its impact on their sensitivity to odor and irritants.

19 Apr 2010

Study on primary cilia formation may lead to new therapies for ciliopathies

A team of scientists at the University of California, San Diego School of Medicine have identified a network of genes that initiate and manage cilia formation. Although scientists have known about cilia for decades, only recently have they discovered their role in disease. This new discovery, which may lead to new therapies for ciliopathies, will appear in the April 15 edition of Nature.

16 Apr 2010

MDA awards over $21M in grants for advancing critical neuromuscular research

Forty-two medical researchers and their labs have been awarded more than $21 million in grants by the Muscular Dystrophy Association to advance critical neuromuscular research in 2010. Many of the grants are multi-year awards to be dispersed over the next three years.

15 Apr 2010

Scientists uncover new genes responsible for cancer, deafness

From deep within the genomes of organisms as diverse as plants, worms and yeast, scientists have uncovered new genes responsible for causing human diseases such as cancer and deafness.

15 Apr 2010

UNC Charlotte researcher improves lives of families and children affected by birth defects

Birth defects remain a leading cause of death in the first year of life. According to the March of Dimes, every 3 to 4 minutes a baby is born with a birth defect in the United States. About 1 in every 33 infants is affected by birth defects.

8 Apr 2010

Autism experts, parents and professionals to attend ARI's Defeat Autism Now! Conference

The Centers for Disease Control and Prevention recently released new estimates that one in every 110 children (1 in 70 boys) is diagnosed with autism. Autism has become more common in our children than cancer, diabetes and AIDS combined. Autism affects children from all socioeconomic and ethnic backgrounds and places a tremendous economic burden on affected families and society at large, costing up to $3.2 million per child for a lifetime of care and over $35 billion in annual societal cost.

8 Apr 2010

Economic burden associated with HAE treatment: First-ever comprehensive examination

Dyax Corp. announced the publication of a first-ever comprehensive examination of the economic burden associated with the treatment of acute attacks and chronic management of hereditary angioedema (HAE). The results, published today in the Annals of Allergy, Asthma, and Immunology, bring to light the substantial direct and indirect medical costs of the disease on patients, payers and society. The economic study is one component of a larger survey-based Burden of Illness (BOI) study which assessed both the economic and humanistic burden of HAE.

5 Apr 2010

ViroPharma initiates Phase 2 clinical study to evaluate Cinryze

ViroPharma Incorporated today announced that it has initiated an open-label, single-dose Phase 2 study to evaluate doses of Cinryze™ (C1 esterase inhibitor [human)] for treatment of acute angioedema attacks in children less than 12 years of age with hereditary angioedema.

31 Mar 2010

PhRMA report: 234 medicines in development for special health care needs of children

America's pharmaceutical research and biotechnology companies are developing 234 medicines for the special health care needs of children, according to a new report released today by the Pharmaceutical Research and Manufacturers of America.

31 Mar 2010

Dian Donnai receives March of Dimes/Colonel Harland Sanders Award for achievement in genetic sciences

A pioneering professor and investigator at the forefront of genetic services in the United Kingdom and who helped define rare genetic diseases is the 2010 recipient of the March of Dimes/Colonel Harland Sanders Award for lifetime achievement in the field of genetic sciences.

27 Mar 2010

EMA accepts MAA filing of ViroPharma's Cinryze for HAE

ViroPharma Incorporated today announced that the European Medicines Agency (EMA) has accepted the filing of its Marketing Authorization Application for Cinryze for acute treatment and prophylaxis against hereditary angioedema, which was submitted through the centralized procedure in March 2010. ViroPharma is seeking European approval for both prevention and treatment of acute attacks of hereditary angioedema.

25 Mar 2010

Committee recommends inclusion of genetic diseases in newborn screening program

The experts who make recommendations for genetic disease screening in newborns face a challenging task: To make conclusions based on the most authoritative available evidence, while considering gaps in the research on such rare conditions, as well as their human impact. An overview of the steps followed by the expert panels tasked with making these recommendations is presented in a special section of the current issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

25 Mar 2010

Life Technologies' real-time PCR instrument available for IVD use in Europe

Life Technologies Corporation (NASDAQ: LIFE) today announced that its Applied Biosystems 7500 Fast Dx Real-Time PCR Instrument is available as a platform suitable for in vitro diagnostics (IVD) use in Europe. Clinical laboratories from 22 countries and European institutions that develop in vitro molecular diagnostic assays in oncology, genetic disease and infectious disease will now be able to leverage the instrument’s regulatory clearance to develop tests for clinical applications.

24 Mar 2010

Ambry Genetics introduces a suite of genetic tests to pinpoint the cause of mental retardation

Ambry Genetics today introduced The Ambry X-Linked Mental Retardation SuperPANEL™, a suite of genetic tests expected to pinpoint the cause of intellectual disability and X-linked mental retardation (XLMR).

24 Mar 2010

GENETICS 2010 meeting highlights latest research on human genetic disorders

The Genetics Society of America (GSA) biennial meeting, "GENETICS 2010: Model Organisms to Human Biology," June 12-15, 2010, at the Sheraton Boston, Massachusetts, will bring together investigators who study genetic models in organisms such as flies, yeast, fungi, mice and other non-human organisms, with researchers in human genetics

24 Mar 2010

Children with neurofibromatosis more likely to have cardiovascular problems

Researchers have discovered how a genetic disease known mainly for its life-threatening tumors also can cause sudden death from cardiovascular disease in children, and are mounting a clinical trial to develop treatments for the problem.

24 Mar 2010

AARDA launches campaign on family AQ

In honor of the designation of March as National Autoimmune Disease Awareness Month by the U.S. Senate on March 4, 2010, the American Autoimmune Related Diseases Association (AARDA) wants to help you learn your family's AQ. AQ is a play on IQ that stands for Autoimmune Quotient. It's about knowing how likely you or a loved one is to develop an autoimmune disease, based on the prevalence of these diseases and your family history. The campaign features AARDA National Spokesperson and Actress Kellie Martin, best known for her memorable roles on "E.R." and "Life Goes On."

22 Mar 2010

Genetic Disorder News and Research

Further Reading

Current concepts and recent research findings on gene therapy for inner ear disorders

Researchers to measure children with Down syndrome to develop new growth charts

StemCells to initiate second clinical trial of HuCNS-SC human neural stem cells in NCL

Exposure to dust after WTC collapse impairs ability to detect odors and sense irritants

Study on primary cilia formation may lead to new therapies for ciliopathies

MDA awards over $21M in grants for advancing critical neuromuscular research

Scientists uncover new genes responsible for cancer, deafness

UNC Charlotte researcher improves lives of families and children affected by birth defects

Autism experts, parents and professionals to attend ARI's Defeat Autism Now! Conference

Economic burden associated with HAE treatment: First-ever comprehensive examination

ViroPharma initiates Phase 2 clinical study to evaluate Cinryze

PhRMA report: 234 medicines in development for special health care needs of children

Dian Donnai receives March of Dimes/Colonel Harland Sanders Award for achievement in genetic sciences

EMA accepts MAA filing of ViroPharma's Cinryze for HAE

Committee recommends inclusion of genetic diseases in newborn screening program

Life Technologies' real-time PCR instrument available for IVD use in Europe

Ambry Genetics introduces a suite of genetic tests to pinpoint the cause of mental retardation

GENETICS 2010 meeting highlights latest research on human genetic disorders

Children with neurofibromatosis more likely to have cardiovascular problems

AARDA launches campaign on family AQ

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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