MIAMI and BOSTON, Jan. 31, 2018 /PRNewswire/ — The Alpha-1 Foundation celebrates the first granting of the John W. Walsh Translational Research Award in Alpha-1 Antitrypsin Deficiency, an honorable award named after John W. Walsh, co-founder of the Alpha-1 Foundation, a visionary man who dedicated his life’s work to finding a cure for Alpha-1 Antitrypsin Deficiency and helping those affected by Alpha-1.
The peer reviewing Committee received four very strong submissions, and the award was granted to Joseph Kaserman, MD, instructor of medicine at Boston University School of Medicine (BUSM) and a physician in Pulmonary, Allergy, Sleep and Critical Care Medicine at Boston Medical Center.
The inaugural John W. Walsh Translational Research Award will be used by Kaserman to address a long outstanding question in the field of whether Alpha-1 carriers (these are individuals who have one normal Alpha1 gene (M) and one mutated gene (Z) have an increased risk of developing liver disease. As up to 2% of the U.S. population could be an Alpha-1 carrier there remains a critical need to address this important question.
For his research Kaserman will be working with specialized adult stem cells named induced pluripotent stem cells (iPSCs), which are stem cells that have been created from patients with Alpha-1 Antitrypsin Deficiency. Importantly, iPSCs contain all the genetic information of the original patient, and provide the ability to compare cells from patients that have the same mutation but different disease severity, i.e. patients who have the Z-mutation with or without liver damage.
To understand the risk associated with having either one or two Z genes, Kaserman will take advantage of a technology known as CRISPR that allows for altering or “editing” the DNA of cells including iPSCs that he has made from Alpha-1 patients. Using this approach, Kaserman will be able to conduct experiments comparing “ZZ”, “MZ”, and “MM” cells that all come from the same individual and thus are genetically identical, varying only at the site of the Alpha-1 Antitrypsin gene that has been edited.
Kaserman will then create liver cells from these iPSCs and examine whether MZ cells accumulate more misfolded AAT protein or are more susceptible to injury than MM cells. As there remain no approved therapies for Alpha-1 liver disease this study will also test new therapeutic agents targeting the mutated Z-protein within cells to see if this will protect the susceptible liver cells from injury.
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