Today, experts are increasingly recognizing the positive role that ordinary physicians can play in refining diagnostic and management guidelines.
We examine the lasting impact of innovative clinical trial designs for rare diseases on other clinical experiments.
We explore the various pulmonary and extrapulmonary manifestations of AATD, and the role of AAT augmentation therapy in both sets of symptoms.
We discuss the increasingly prevalent role of precision medicine in treating genetic diseases such as alpha-1 antitrypsin deficiency (AATD).
We explore the evidence on the pathological effects of AATD on the human liver, particularly in individuals with the Pi*ZZ mutation.
Protein misfolding and its consequences are a key mechanism in the pathophysiology of alpha-1 antitrypsin deficiency.
We examine how protease activity injures the lungs in patients with AATD, and whether protease inhibitors could be the therapeutic solution.
We explore the role of next-generation sequencing in providing a genetic diagnosis for infants with a cholestatic disease, such as Alagille syndrome or AATD.
We explore how AAT therapy can be self-administered safely by AATD patients, which is vital when their ability to travel is limited.
We explore AATD care in the context of Covid-19, including a hypothesis that AAT therapy could ameliorate COVID-19 symptoms.