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FDA grants marketing approval for CSL Behring's Berinert C1-Esterase Inhibitor

CSL Behring announced today that the U.S. Food and Drug Administration (FDA) has granted marketing approval for Berinert® C1-Esterase Inhibitor, Human for the treatment of acute abdominal or facial attacks of hereditary angioedema (HAE), a rare and serious genetic disorder, in adult and adolescent patients. Berinert is the first and only therapy approved for this indication in the U.S.

12 Oct 2009

Researchers visualize vasculature within native liver cyst walls of human ADPKD patients

As part of an effort to develop effective medical therapies that block the progression of liver cyst growth in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD), researchers at the University of Colorado Anschutz Medical Center have found that the liver cyst walls develop and maintain a vasculature as they grow out from the body of the liver and that factors released by epithelial cells that line the liver cyst wall lumen can drive the proliferation and development of vascular endothelial cells.

24 Sep 2009

Researchers demystify polar body analysis reproduction technique

Three out of ten women who undergo polar body diagnosis go on to have a child. The extensive technique of polar body analysis (PBA) is described by researchers in reproductive medicine at Lübeck in an article in the current edition of Deutsches Ärtzeblatt International, in which they present three successful cases and one failure.

31 Aug 2009

Research study links partial epilepsy to the disruption of brain development during early childhood

A form of partial epilepsy associated with auditory and other sensory hallucinations has been linked to the disruption of brain development during early childhood, according to a study led by researchers at Beth Israel Deaconess Medical Center (BIDMC).

24 Aug 2009

Discovery of gene linked to maturity-onset diabetes of the young

Researchers at the Joslin Diabetes Center have linked another gene to a rare form of diabetes, a finding that could prove beneficial to those with the more common type 2 diabetes.

10 Aug 2009

Advances in cystic fibrosis genetic testing

San Juan Capistrano, CA and Chantilly, VA –Three reports describing advances in cystic fibrosis genetic testing appear in the May 2009 issue of The Journal of Molecular Diagnostics .

27 Apr 2009

Two new hereditary corneal disorders discovered

Two new disorders affecting the cornea have been discovered by researchers at Linkoping University. The hereditary disorders were discovered in two Swedish families.

7 Apr 2009

Measuring quality of life in patients with hereditary kidney disease

A commonly used questionnaire that measures quality of life is not sensitive enough to pick up mental and physical problems experienced by patients with autosomal dominant polycystic kidney disease (ADPKD), according to a study appearing in an upcoming issue of the Clinical Journal of the American Society Nephrology (CJASN).

4 Mar 2009

Genetic link between cats and humans for retinitis pigmentosa

About one in 3,500 people are affected with retinitis pigmentosa (RP), a disease of the retina's visual cells that eventually leads to blindness.

4 Mar 2009

Launch of new foundation for Batten disease

Leading scientists, medical researchers and affected families joined together today to launch Beyond Batten Disease Foundation, an organization committed to finding a cure for this rare disease that claims the lives of children.

4 Mar 2009

Breakthrough in prenatal screening for Down syndrome

Lenetix, Inc. today announced a significant step in the development of an improved first and second trimester non-invasive fetal chromosomal screening test to detect Down syndrome and other genetic fetal conditions.

29 Jan 2009

New drug shows promise for phenylketonuria

PKU is described by scientists as an autosomal recessive genetic disease that is characterized by a deficiency in an enzyme called phenylalanine hydroxylase (PAH).

15 Jan 2009

Discovery of mechanism that may explain Parkinson's and other neurological disorders

Studying just eight families worldwide, the international team of researchers have discovered a genetic defect that results in profound depression and parkinsonism in a disorder known as Perry syndrome.

12 Jan 2009

Merck Serono's Kuvan receives European marketing authorization

Merck Serono, a division of Merck KGaA, Darmstadt, Germany, today announced that the European Commission has granted marketing authorization for Kuvan(R) for the treatment of hyperphenylalaninemia (HPA) in phenylketonuria (PKU) or BH4 deficient patients.

10 Dec 2008

Potentially new biomarkers for Alzheimer's

Every aging baby boomer listens for the footsteps of Alzheimer's, and for good reason: It's estimated that 10 million American boomers will develop the disease. The need to develop preventative strategies, ideally long before Alzheimer's destructive, clinical symptoms appear, is critical.

19 Jul 2008

Discovery of gene behind new form of intellectual disability

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP).

24 Apr 2008

Orphan Europe files NDA with FDA for Carbaglu (carglumic acid)

Recordati announced the submission to the U.S. FDA by Orphan Europe (a Recordati group company) of an Original New Drug Application (NDA) for Carbaglu (carglumic acid).

21 Apr 2008

Decline in cystic fibrosis since introduction of prenatal carrier screening

A brief report in the February 28, 2008, New England Journal of Medicine, led by researchers at the New England Newborn Screening Program (NENSP) of the University of Massachusetts Medical School (UMMS), indicates a declining incidence of a genetic disease, providing what may be the first demonstration of a link between two independent population-based screening programs.

28 Feb 2008

Novel hMSH2 gene mutation in colorectal cancer patients

About 20% of colorectal cancer (CRC) patients have a genetic component and HNPCC is the most common autosomal dominant hereditary syndrome.

25 Feb 2008

Scorpion venom may hold key to controlling cystic fibrosis

Researchers have discovered a peptide in scorpion venom that may hold the key to understanding and controlling cystic fibrosis and other secretory diseases.

17 Feb 2008