Latest News
Direct-to-Consumer Genomic Testing May Help Identify AATD
COVID-19 Could Have Long-Lasting Impact on Research Into Rare Diseases
Importance of AATD Patients Recognizing Exacerbations in Pulmonary Symptoms
AATD Testing in COPD Patients Remains Low Despite Clinical Benefits
Learn About the Therapies for Alpha-1 Antitrypsin Deficiency
RNA Editing Increases AAT Protein Levels in Mouse Model With AATD
Portal Hypertension Complicated by HPS: A Case Report Consistent With AATD
The Etiology and Different Types of AATD
Circulating AAT Polymers in AATD Possibly Associated With Lung and Liver Disease
Latest Clinical Trials
Features
Israel Emerges as Global Powerhouse in Rare Disease Research
TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…
Researchers Exploring Multiple Mechanisms of Action for Treating AATD
Faron Schonfeld, a successful investment portfolio manager from Philadelphia, Pennsylvania, had for years suffered chronic coughing and sinus infections that only seemed to get worse. He was finally referred to a pulmonologist at National Jewish Health in Denver, Colorado. That’s where he got the diagnosis: Schonfeld had alpha-1 antitrypsin deficiency (AATD, or simply alpha-1) —…
Emerging Therapies, COVID-19 Highlight Alpha-1 Foundation’s Upcoming ‘Virtual Education Day’
Alpha-1 antitrypsin deficiency (AATD) is among the most common life-threatening genetic diseases to affect adult Caucasians worldwide. Yet for years, there’s only been one way to treat it: augmentation therapy. All 4 augmentation therapy products approved by the US Food and Drug Administration (FDA) involve taking alpha-1 antitrypsin protein (AAT) from the plasma of healthy…
Patient Perspectives
Healthy Living With AATD Requires Discipline, Knowledge
There are several things I would have done differently after my alpha1-antitrypsin deficiency (AATD) diagnosis. I did have a great doctor, but there were certain things I wish I had realized were so important. I once heard someone else with AATD say: “Nothing about respiratory illness is straightforward.” While this is true, so much can…
My AATD Diagnosis Took Years, and So Did Learning How to Live With the Disease
At age 34, with the less severe form of AATD, SZ, I cannot walk or run for more than 20 minutes a day anymore.
Alpha-1 Clinical Insights
Favorable Outcomes Seen With Lung and Liver Transplantation in AATD
A review article reveals that lung and liver transplantation have favorable outcomes in AATD patients with end-stage lung and liver diseases.
The Role of Medical Imaging in Alpha-1 Antitrypsin Deficiency
Researchers compiled a list of common imaging features in alpha-1 antitrypsin deficiency that they believe can provide a vital window into the disease.
The Relationship Between Alpha-1 Antitrypsin Deficiency and Lung Cancer
There has been much literature devoted to alpha-1 antitrypsin deficiency and lung cancer, albeit separately, thus complicating efforts to compare the 2 diseases objectively.
The Genetic Basis and Clinical Features of Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is is usually underdiagnosed, researchers wrote in a review of the scientific literature on the clinical aspects of the disease.
Rare Care Podcast
Mark Brantly, MD, scientific director of the Alpha-1 Foundation, is the vice-chair of research in the Department of Medicine at the University of Florida in Gainesville, and has spent most of his career researching a cure for alpha-1 antitrypsin deficiency (AATD).
Alpha-1 Meeting Coverage
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