The mission of the Alpha-1 Foundation DNA and Tissue Bank at the University of Florida is to provide researchers with DNA, plasma and tissue from patients with Alpha-1 Antitrypsin Deficiency to promote discovery and new therapies relevant to people with Alpha-1.
The bank, established in 2002, has more than 2,300 members enrolled and is available for researchers to request medical information (the names of donors are not revealed) and samples for research projects. Mark Brantly, MD, is the principal investigator and supervisor of the DNA and Tissue Bank.
Most enrolled subjects have provided medical information and blood samples. In addition, pulmonary function and liver enzyme testing results are a part of the bank’s data set.
High quality genomic DNA, plasma and limited amounts of lung and liver tissue, paired with an extensive clinical database, are available for researchers interested in Alpha-1 Antitrypsin Deficiency. The collection includes spouses and family members as controls, along with a large cohort of alpha-1-antitrypsin deficient individuals maintained with regulatory control UFL IRB 659-2002, operating under NIH confidentially agreement. The collection includes 2322 DNA and plasma samples, specifically 806 PI ZZ, 7 non-genotyped, 195 Rare/null, 86 SZ, 3 SS, 470 MZ, 97 MS and 674 MM samples.
In addition the collection includes formalin-fixed lung tissue from 22 individuals including 13 ZZ, 5 MM, 1 MF, 2 MZ, and 1 MS, plus 17 liver samples, including 14 ZZ, 2 MZ and 1 MS. The number of fresh frozen samples available for study is limited.
Researchers needing information on how to obtain samples of DNA and tissue should contact David Fernandez, Manager of Research Administration, at firstname.lastname@example.org or at (877) 228-7321 ext. 242.