Antitrypsin Deficiency News and Research RSS Feed - Antitrypsin Deficiency News and Research

Scientists identify new mutation in a gene that causes Alpha-1 Antitrypsin Deficiency

Scientists identify new mutation in a gene that causes Alpha-1 Antitrypsin Deficiency

Scientists have identified a new mutation in the gene that causes the inherited disease known as Alpha-1 Antitrypsin Deficiency (Alpha-1), which affects roughly one in 2,500 people of European descent. [More]
ALN RNAi therapeutic program represents novel approach for treatment of AAT deficiency

ALN RNAi therapeutic program represents novel approach for treatment of AAT deficiency

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has presented new pre-clinical data with an RNAi therapeutic targeting alpha-1 antitrypsin (AAT) for the treatment of liver disease associated with AAT deficiency. These data were presented at the 63rd Annual Meeting of the American Association for the Study of Liver Diseases (AASLD, "The Liver Meeting") held November 9-13, 2012 in Boston. [More]
Oxidative stress occurs in genetic models of alpha-1-antitrypsin deficiency

Oxidative stress occurs in genetic models of alpha-1-antitrypsin deficiency

A team of researchers under the direction of Dr. Jeffrey Teckman in the Department of Pediatrics at St. Louis University, have demonstrated that oxidative stress occurs in a genetic model of alpha-1-antitrypsin deficiency. [More]
SLU professor to investigate natural history and progression of Alpha-1 Antitrypsin Deficiency

SLU professor to investigate natural history and progression of Alpha-1 Antitrypsin Deficiency

Jeffrey Teckman, M.D., professor of pediatrics and biochemistry and molecular biology at Saint Louis University, has received a $1.4 million grant from the Alpha-1 Foundation to investigate the natural history and progression of Alpha-1 Antitrypsin Deficiency, an inherited disease that can cause liver damage in children as well as adults. [More]

GSK, University of Cambridge aim to discover and develop new medicines for liver disease

A new collaboration based at the University of Cambridge will aim to discover and develop new medicines to treat liver disease. [More]

COPDF announces expansion of Bronchiectasis Research Registry

The COPD Foundation (COPDF) today announced expansion of its Bronchiectasis Research Registry to include patients with Nontuberculous Mycobacteria (NTM), an often misdiagnosed orphan disease that can cause severe lung infections that mimic tuberculosis when certain individuals are exposed to soil and water. [More]
RCSI study: Alpha-1 antitrypsin deficiency more prevalent in Ireland

RCSI study: Alpha-1 antitrypsin deficiency more prevalent in Ireland

Researchers from the Royal College of Surgeons in Ireland (RCSI), Beaumont Hospital, and Trinity College Dublin have conducted a study which has found that Ireland has one of the highest incidences in the world of a genetic condition that causes severe hereditary emphysema. [More]
Researchers demonstrate that iPS stem cells may be used for gene therapy

Researchers demonstrate that iPS stem cells may be used for gene therapy

This research, published on Oct. 12 on the Nature review website, provides evidence of a major concept could pave the way for the future use of these stem cells to treat humans, through perspective gene therapies. [More]
Nature publishes Sangamo's gene correction strategy for A1AT deficiency

Nature publishes Sangamo's gene correction strategy for A1AT deficiency

Sangamo BioSciences, Inc. (Nasdaq: SGMO) announced the publication of a preclinical study demonstrating highly specific, functional correction of the alpha 1-antitrypsin (A1AT) gene defect in patient-derived induced pluripotent stem cells (iPSCs) using zinc finger nucleases. [More]
Skin cell to liver cell shows promise for genetic liver disease

Skin cell to liver cell shows promise for genetic liver disease

In a new scientific breakthrough, researchers have taken skin cells from a patient with liver disease and turned them into replacement liver cells. Although the procedure is years before it can be used in humans, but if approved, it could launch a new era of personalized therapies for serious genetic disorders. [More]
Isis designates ISIS-AATRx candidate in collaboration with GSK

Isis designates ISIS-AATRx candidate in collaboration with GSK

Isis Pharmaceuticals, Inc. announced today that it has designated the second development candidate, ISIS-AATRx, in its collaboration with GlaxoSmithKline [More]
Intrexon, Halozyme partner to develop subcutaneous alpha 1-antitrypsin for A1AT deficiency

Intrexon, Halozyme partner to develop subcutaneous alpha 1-antitrypsin for A1AT deficiency

Halozyme Therapeutics, Inc. and Intrexon Corporation, today announced the signing of a worldwide exclusive licensing agreement for the use of rHuPH20 in the development of a subcutaneous injectable formulation of Intrexon Corporation's recombinant human alpha 1-antitrypsin (rHuA1AT). [More]

PPTA offers new DVD on plasma donation

Anyone curious about what to expect as a plasma donor and how plasma contributes to lifesaving medicines can now learn about the process thanks to a new DVD from the Plasma Protein Therapeutics Association. [More]

Breakthrough in understanding mechanisms behind hereditary alpha-1-antitrypsin deficiency

Researchers from the Royal College of Surgeons in Ireland (RCSI) and Beaumont Hospital have made a breakthrough in understanding the mechanisms behind the most severe form of hereditary emphysema and how protein treatments can improve the condition. The findings of this study may also lead to new treatments for patients with smoker's emphysema. [More]

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. [More]

Talecris announces publication of A1PI studies for AAT deficiency in Respiratory Research journal

Talecris Biotherapeutics announced today the publication of combined data from two studies demonstrating that augmentation therapy with Alpha(1)-Proteinase Inhibitor (Human) (A1PI) significantly reduces lung tissue loss in patients with emphysema related to Alpha(1)-antitrypsin (AAT) deficiency. [More]

New iPSC cell lines could help in treating patients with lung diseases

A team of researchers from Boston University's Center for Regenerative Medicine and the Pulmonary Center have generated 100 new lines of human induced pluripotent stem cells (iPSC) from individuals with lung diseases, including cystic fibrosis and emphysema. The new stem cell lines could possibly lead to new treatments for these debilitating diseases. [More]
BioRx receives limited distribution rights from Baxter for AATD drug GLASSIA

BioRx receives limited distribution rights from Baxter for AATD drug GLASSIA

BioRx, a specialty pharmacy company, has received limited distribution rights from Baxter International Inc. for a new drug, GLASSIA™ [Alpha 1-Proteinase Inhibitor (Human)], the first and only liquid, ready-to-use treatment for alpha-1 antitrypsin deficiency (AATD) in the United States. AATD is a genetic disorder that causes low levels of alpha 1-antitrypsin, resulting in emphysema. AATD is also referred to as "genetic" or "congenital" emphysema. [More]

Talecris Biotherapeutics announces 2010 eALTA award recipients

Talecris Biotherapeutics GmbH announced yesterday the recipients of the 2010 European alpha1-antitrypsin Laurell's Training Awards (eALTA). The annual awards, sponsored by Talecris, provide two fellowships of 50,000 euros to young investigators whose research aims to enhance the understanding and treatment of alpha1-antitrypsin deficiency (AAT deficiency). [More]

FDA grants AGTC $1M for Phase II human clinical trial in alpha-1 antitrypsin deficiency

Applied Genetic Technologies Corporation, a privately-held, clinical stage biotechnology company developing novel systems to deliver human therapeutics, announces that it has received a grant of $1 million from the Food and Drug Administration (FDA Orphan Drugs Program) to fund a Phase II Human Clinical Trial evaluating the safety and efficacy of a treatment for Alpha 1 Antitrypsin Deficiency (AAT), a genetic disease known to result in serious lung and/or liver disease. [More]