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Vascular disorder of the brain most frequently misdiagnosed as multiple sclerosis

A devastating vascular disorder of the brain called CADASIL, which strikes young adults and leads to early dementia, often is misdiagnosed as multiple sclerosis, Loyola University Health System researchers report.

10 Mar 2011

RMEI, PIM sponsor medical education monograph on HAE

Hereditary angioedema is an autosomal dominant disorder resulting from a deficiency in functional C1 inhibitor. Manifestations include recurrent episodes of nonpitting subcutaneous and submucosal edema involving the skin, airway, and visceral organs.

2 Mar 2011

Synageva supports Fourth International Rare Disease Day

Synageva BioPharma Corp., a privately held biopharmaceutical company that is developing therapeutic products for rare disorders, announced today that the company is supporting the Fourth International Rare Disease Day observance on February 28, 2011.

28 Feb 2011

Intellikine, PKD Foundation to investigate novel therapies for patients with PKD

Intellikine, a leader in the development of small molecule drugs targeting the PI3K/mTOR pathway, and the PKD Foundation today announced a collaboration to investigate novel, orally-available small molecule kinase inhibitors of the TORC1 and TORC2 complexes as a potential treatment for patients with polycystic kidney disease.

11 Feb 2011

INF2 gene mutation is a major cause for focal segmental glomerulosclerosis

Mutations in a gene called INF2 are by far the most common cause of a dominantly inherited condition that leads to kidney failure, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology. The results may help with screening, prevention, and therapy.

21 Jan 2011

Researchers report gene therapy strategy that improves Beta Thalassemia in mice model

Researchers at Nationwide Children's Hospital report a gene therapy strategy that improves the condition of a mouse model of an inherited blood disorder, Beta Thalassemia.

11 Jan 2011

Low levels of microbe-killing molecules improve survival rate of people with CGD

Investigators at the National Institutes of Health have observed that the survival rate of people with a rare immunodeficiency disease called chronic granulomatous disease is greatly improved when even very low levels of microbe-killing molecules are present.

30 Dec 2010

Research finds alteration in KBTBD13 protein causes nemaline myopathy

Researchers from the Department of Anesthesiology, Uniformed Services University of the Health Sciences (USU), along with research teams from the National Institutes of Health and from Australia, the Netherlands and Spain, have identified a novel gene on chromosome 15q that, when altered, causes nemaline myopathy with cores, a rare inherited muscle disorder. The gene encodes a member of the BTB/Kelch family of proteins.

30 Nov 2010

German Genetic Diagnostics Act in need of amendment

Many aspects of the German Genetic Diagnostics Act (Gendiagnostikgesetz) are out of touch with the latest technology, almost impossible to implement in clinical practice, or even detrimental to the success of recognised screening tests, such as newborn screening. The Act, which came into force in February 2010, is in desperate need of amendment.

11 Nov 2010

University of Utah makes progress against SMA with support of Families of Spinal Muscular Atrophy

18 Jun 2010

Researchers make significant headway in fight against SMA

Researchers at the University of Utah are making strides in understanding and combating a motor neuron disease known as Spinal Muscular Atrophy. The spinal muscular atrophies are a group of inherited diseases that cause progressive degeneration of motor nerves resulting in muscle weakness. The most common form of the disorder, due to the deletion of a critical gene on chromosome 5, is currently the leading cause of inherited infant and child mortality.

18 Jun 2010

WRNp controls key step in pluripotent stem cell differentiation: Study

A gene shown to play a role in the aging process appears to play a role in the regulation of the differentiation of embryonic stem cells, according to researchers from the Center for Stem Cell Biology and Regenerative Medicine and the Department of Medicine at Thomas Jefferson University.

5 Jun 2010

CSL Behring granted authorization to market Berinert for HAE in Italy and Luxembourg

CSL Behring announced today it has been granted national marketing authorization in Italy and Luxembourg to market Berinert® for the treatment of acute hereditary angioedema (HAE) attacks in any body location. This latest authorization brings the number of countries to 28 (in Europe, Asia, North America, South America and Australia) in which Berinert is now licensed.

28 May 2010

Immunosuppressive drug sirolimus improves kidney health of patients with ADPKD: Study

The immunosuppressive drug sirolimus considerably improves the kidney health of patients with autosomal dominant polycystic kidney disease, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology.

14 May 2010

Progress in development of gene therapies for inherited blindness caused by rod degeneration

Veterinary vision scientists at the University of Pennsylvania have safely and successfully used a viral vector in targeting a class of photoreceptors of the retina called rods, a critical first step in developing gene therapies for inherited blindness caused by rod degeneration.

3 May 2010

Hormone mimic Octreotide promising for treatment of polycystic liver disease caused by ADPKD: Study

A hormone mimic called Octreotide may be effective for treating polycystic liver disease (PLD) caused by ADPKD, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology (JASN). The study is the first clinical trial performed in the United States to test the effects of this agent in PLD.

30 Apr 2010

New gene therapy to restore retinal cone function and day vision

Veterinary ophthalmology researchers from the University of Pennsylvania have used gene therapy to restore retinal cone function and day vision in two canine models of congenital achromatopsia, also called rod monochromacy or total color blindness.

22 Apr 2010

First case of treating cystic fibrosis and Crohn's disease with infliximab

Cystic fibrosis (CF) is the most common life-threatening autosomal recessive disease in Caucasian children; it has an incidence of 1 case in every 2500 children born alive. CF involves an anomalous function of the exocrine glands, caused by a mutation of a gene (cystic fibrosis transmembrane conductance regulator, CFTR) located on chromosome 7, which codes for a protein involved in ion transport through the cell membrane.

20 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

LabCorp offers 21-marker genetic analysis for testing parentage/relationship

Laboratory Corporation of America® Holdings announced today that it is the first national laboratory to offer customers a 21-marker genetic analysis in combination with a double-blind process for parentage/relationship testing on every sample. The testing utilizes two kits developed for LabCorp by Promega Corporation of Madison, Wisconsin.

27 Mar 2010