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A1-PI treatment slows progression of emphysema in patients with AATD

Treatment with an Alpha-1 proteinase inhibitor (A1-PI), a naturally occurring protein that protects lung tissue from breakdown and protects the lung's elasticity, is effective in slowing the progression of emphysema in patients with Alpha-1 antitrypsin deficiency (AATD), a life-threatening genetic disorder, according to a new study presented at the 2013 American Thoracic Society International Conference. [More]
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]
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]
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]
AGTC receives FFB grant to evaluate gene therapy treatment for X-linked Retinoschisis

AGTC receives FFB grant to evaluate gene therapy treatment for X-linked Retinoschisis

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 $1.5 million from the Foundation Fighting Blindness to fund a pre-clinical trial evaluating the safety and efficacy of a gene therapy treatment for X-linked Retinoschisis (XLRS), a genetic eye disease affecting over 35,000 patients in the US and Europe. [More]
PPTA applauds introduction of 'Preserving Access to Orphan Drugs Act'

PPTA applauds introduction of 'Preserving Access to Orphan Drugs Act'

The Plasma Protein Therapeutics Association (PPTA) applauds the introduction of bipartisan legislation, the Preserving Access to Orphan Drugs Act (H.R. 2672) and (S. 1423), which will safeguard the development of drugs and therapies that treat patients with rare diseases by eliminating barriers to innovation. [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]
Neurology professor receives MFRF's 'See the Light' award for Tay-Sachs research

Neurology professor receives MFRF's 'See the Light' award for Tay-Sachs research

Miguel Sena-Esteves, PhD, associate professor of neurology at the University of Massachusetts Medical School, was presented with the annual "See the Light" award from the Mathew Forbes Romer Foundation in recognition of his work for leading the fight against children's genetic diseases of the brain. [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]

Science and precedent do not support biosimilar approach for plasma protein therapies

The current science and experience does not support the safety and efficaciousness of a biosimilar pathway for plasma protein therapies. At a public hearing last week, the Plasma Protein Therapeutics Association (PPTA) urged the United States Food and Drug Administration (FDA) to make patient safety its top priority by adopting a global approach in its evaluation of plasma protein therapies for the biosimilars process. [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

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]