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.

JAX, Tufts University unveil new mammalian genetics track for PhD students

The Jackson Laboratory, Sackler School of Graduate Biomedical Sciences at Tufts, and Tufts University School of Medicine have unveiled a new mammalian genetics track for PhD students. The joint track offers students in-depth research and training at both JAX and Tufts.

6 Jan 2011

Investigators receive two Alpha-1 Foundation grants for research on lung disorder

The Alpha-1 Foundation announced today that it has awarded two research grants to investigators whose research will contribute to our understanding of the causes and mechanisms that give rise to lung disease.

6 Jan 2011

Kennedy Krieger inagurates new clinic for AHO treatment and research

Kennedy Krieger Institute announced the opening of a new clinic for the treatment and research of Albright hereditary osteodystrophy (AHO), a rare genetic disorder affecting the bones, skin and hormone-producing tissues.

29 Dec 2010

Santarus, Pharming submit RHUCIN BLA to FDA for treatment of HAE attacks

Specialty biopharmaceutical company Santarus, Inc. and biotech company Pharming Group NV today announced the submission of a Biologics License Application (BLA) to the U.S. Food and Drug Administration (FDA) to obtain marketing approval for RHUCIN® (recombinant human C1 inhibitor) for the treatment of acute angioedema attacks in patients with Hereditary Angioedema (HAE).

29 Dec 2010

King Pharmaceuticals resubmits NDA for REMOXY

King Pharmaceuticals®, Inc. and Pain Therapeutics®, Inc. today announced that King has resubmitted a New Drug Application for REMOXY® to the U.S. Food and Drug Administration in response to a Complete Response letter received by Pain Therapeutics in December 2008.

28 Dec 2010

Exome sequencing leads to correct diagnosis and life-saving treatment for mysterious genetic disorder

A genetic testing approach called exome sequencing—which provides a clinically practical alternative to whole-genome sequencing—led to correct diagnosis and life-saving treatment in a child with a previously unknown genetic disease, reports an upcoming paper in Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

21 Dec 2010

Akonni receives $150,000 Phase I NSF grant to assess feasibility of developing lab-on-a-film microarray device

Akonni Biosystems, a molecular diagnostics company that develops, manufactures, and plans to market sophisticated molecular testing devices for diagnosing infectious diseases and human genetic disorders, announced today the receipt of a $150,000 Phase I Grant from the National Science Foundation (NSF). This initial round of funding from NSF will enable Akonni to assess the feasibility of developing a lab-on-a-film microarray device that can be manufactured in a reel-to-reel format.

16 Dec 2010

Pain Therapeutics completes special, one-time nondividend cash distribution

Pain Therapeutics, Inc. announced today the completion of a special, one-time nondividend cash distribution of $2.00 per share, or an aggregate of about $86 million. In connection with this event, Nasdaq® will adjust the price of PTIE by $2.00 per share at today's open.

13 Dec 2010

New initiative launched to fight cystic fibrosis

The University of British Columbia, in partnership with the Canadian Cystic Fibrosis Foundation (CCFF) and the Centre for Drug Research and Development (CDRD), today launches the Cystic Fibrosis Technology Initiative (CFTI) to advance Canadian technologies that will help combat cystic fibrosis (CF).

13 Dec 2010

UAB researchers pinpoint protein that causes nephrotic syndrome

University of Alabama at Birmingham researchers have pinpointed a protein that compromises the kidney's filtering ability, causing nephrotic syndrome, and demonstrated that a naturally occurring precursor of an acid in the body offers potential for treating some forms of the condition.

13 Dec 2010

Talecris initiates clinical trial to evaluate 2 doses of PROLASTIN-C for emphysema due to AAT deficiency

Talecris Biotherapeutics, Inc. announced today the initiation of a clinical trial evaluating the safety and the pharmacokinetic profile of two doses of PROLASTIN®-C (Alpha(1)-Proteinase Inhibitor [Human]) (A1PI), a therapy indicated for chronic augmentation and maintenance in adults with emphysema due to alpha(1)-antitrypsin (AAT) deficiency. AAT deficiency is a rare, genetic disorder in which low levels of the alpha(1) protein circulating in the lungs can increase an individual's risk of developing emphysema.

10 Dec 2010

Dogs help understand primary ciliary dyskinesia

A dog is mankind's best friend : the old saying has once again been borne out through a medical discovery concerning the genetic origins of primary ciliary dyskinesia (PCD). In using dogs as a research model in the framework of the European LUPA project, a team from the University of Liège's GIGA-Research Unit has been able to bring to light new mutations in a specific gene responsible for the development of the disease in human beings.

9 Dec 2010

Bisphenol A tainted money and receipts

Bisphenol A (BPA) has been found in many household items and other common objects and is known to be an endocrine disruptor linked to infertility, genital abnormalities, cancer and more. Now it has been detected on ‘cash’. Since BPA is used to make plastic, manufacturers use about 8 billion pounds of BPA that is moulded, cooked or poured into toys, baby products and other merchandise each year. On these products BPA is chemically bonded but it is simply applied in a powdery film to paper, making it easy to rub off with a touch.

8 Dec 2010

Expansion of newborn screening throws some families on a journey of great uncertainty

Mandatory genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.

7 Dec 2010

New study offers hope for children with MPS I genetic disorder

A new study offers hope for children born with a rare genetic disease, according to a paper published by the American Association for the Advancement of Science.

3 Dec 2010

Soy bean derived compound could treat Sanfilippo genetic disease in children

Scientists from The University of Manchester say a naturally occurring chemical found in soy could prove to be an effective new treatment for a fatal genetic disease that affects children.

2 Dec 2010

Health Canada approves VPRIV enzyme replacement therapy for type 1 Gaucher disease

Shire plc, the global specialty biopharmaceutical company, announces that Health Canada has approved VPRIV (velaglucerase alfa), an enzyme replacement therapy (ERT) for long-term use in pediatric and adult type 1 Gaucher disease.

1 Dec 2010

Penicillamine challenge ineffective for detecting Wilson's disease in asymptomatic children

An Italian research team confirmed that the scoring system for Wilson's disease (WD) provides good diagnostic accuracy with 93% positive and 92% negative predictive values, respectively in children with mild liver disease. In asymptomatic children, a urinary copper excretion above 40 μg/24 hours was suggestive of WD, however the penicillamine challenge test (PCT) did not provide an accurate diagnosis in this patient subset.

1 Dec 2010

Fenwal's new Autopheresis-C software facilitates faster plasma-collection times

Fenwal, Inc., a global medical technology company focused on improving blood collection, separation, safety and availability, announced today that in a trial of its new Autopheresis-C® software, plasma-center professionals and donors reported faster plasma-collection times and an improved plasma-collection and donation experience. More than 90 percent of donors surveyed reported a decrease in their donation wait time. Donors who are more satisfied are more likely to donate regularly.

30 Nov 2010

New findings could drive medical advances in genetic disorders that cause infertility

A hormone responsible for the onset of puberty can end up stuck in the wrong part of the body if the nerve pathways responsible for its transport to the brain fail to develop properly, according to research funded by the Biotechnology and Biological Sciences Research Council (BBSRC).

30 Nov 2010

Genetic Disorder News and Research

Further Reading

JAX, Tufts University unveil new mammalian genetics track for PhD students

Investigators receive two Alpha-1 Foundation grants for research on lung disorder

Kennedy Krieger inagurates new clinic for AHO treatment and research

Santarus, Pharming submit RHUCIN BLA to FDA for treatment of HAE attacks

King Pharmaceuticals resubmits NDA for REMOXY

Exome sequencing leads to correct diagnosis and life-saving treatment for mysterious genetic disorder

Akonni receives $150,000 Phase I NSF grant to assess feasibility of developing lab-on-a-film microarray device

Pain Therapeutics completes special, one-time nondividend cash distribution

New initiative launched to fight cystic fibrosis

UAB researchers pinpoint protein that causes nephrotic syndrome

Talecris initiates clinical trial to evaluate 2 doses of PROLASTIN-C for emphysema due to AAT deficiency

Dogs help understand primary ciliary dyskinesia

Bisphenol A tainted money and receipts

Expansion of newborn screening throws some families on a journey of great uncertainty

New study offers hope for children with MPS I genetic disorder

Soy bean derived compound could treat Sanfilippo genetic disease in children

Health Canada approves VPRIV enzyme replacement therapy for type 1 Gaucher disease

Penicillamine challenge ineffective for detecting Wilson's disease in asymptomatic children

Fenwal's new Autopheresis-C software facilitates faster plasma-collection times

New findings could drive medical advances in genetic disorders that cause infertility

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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