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The Children's Research Institute

Hepato Renal Fibrocystic Disease Core Center HRFDCC

The Hepato-Renal Fibrocystic Disease (HFRD) Translational Core Center was founded in 2005 by Lisa Guay-Woodford, MD, during her tenure at the University of Alabama at Birmingham and funded through an National Institutes of Health P30 mechanism. Autosomal recessive polycystic kidney disease (ARPKD) and other hepato-renal fibrocystic diseases are relatively rare recessive disorders, but constitute an important set of childhood nephropathies. Rare disease research requires greater collaboration than the efforts in common diseases where patient resources are routinely available and large repositories can be built locally, as well as nationally.

Within the HRFDCC, Dr. Guay-Woodford established the Hepato-Renal Fibrocystic Diseases Translational Resource (Core A) that features a longitudinal clinical database; a database for genetic mutations; a human tissue repository; and a DNA Bank for patients with hepato-renal fibrocystic diseases drawn from tertiary care centers throughout the Americas (North, Central, and South). In addition, she has developed a portfolio of ARPKD-related educational information and tools to encompass the spectrum of hepato-renal fibrocystic diseases.

Through the P30 mechanism, this Core Resource serves as a critical platform for assessing genotype-phenotype correlations, identifying new HRFD genes, and developing future interventional studies. In addition, Core A provides educational resources to the broad community of patients and families and physicians/healthcare providers. 

Faculty members of the Hepato-Renal Fibrocystic Disease Core Center (HRFDCC):