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Office
9312 Roberts Center for Pediatric Research
734 Schuylkill Avenue
Philadelphia, PA 19146Phone+1 267-425-0315
Summary
- My work as an academic pediatric nephrologist focuses on identifying clinical and genetic factors involved in the pathogenesis of inherited renal disorders, most notably autosomal recessive polycystic kidney disease (ARPKD). My laboratory participated in the identification of the human ARPKD gene as part of an international consortium and our group was the first to identify a candidate modifier gene for ARPKD. I have directed the NIDDK-funded Hepato-Renal Fibrocystic Disease Research and Translational Core Center, initially established when she was at the University of Alabama at Birmingham (UAB), and she continues to serve as co-Director of the UAB Childhood Cystic Kidney Disease Core Center. My research program has been funded by the NIH, the Burroughs Wellcome Fund Clinical Scientist Award in Translational Research, and the Polycystic Kidney Disease Foundation. In 2009, I was awarded the Lillian Jean Kaplan International Prize for Advancement in the Understanding of Polycystic Kidney Disease, given by the PKD Foundation and the International Society of Nephrology.
I recently assumed the role of Senior Advisor for Clinical and Translational Research Initiatives and Director of the Inherited Kidney Diseases Program at the Children’s Hospital of Philadelphia (CHOP) where I hold an endowed chair as a Presidential Professor in the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania.
Education & Training
- Columbia University Vagelos College of Physicians and SurgeonsNo degree, Linkage Analysis Course, 1993
- Boston Children’s Hospital/Boston Medical CenterFellowship, Pediatric Nephrology, 1987 - 1989
- The Jackson LaboratoryNo degree, Medical and Mammalian Genetics, 1989
- Boston Children’s Hospital/Boston Medical CenterResidency, Pediatrics, 1983 - 1986
- Harvard Medical SchoolClass of 1983
- College of the Holy CrossB.A., Summa cum Laude, 1975 - 1979
Certifications & Licensure
- DC State Medical License 2012 - 2024
- PA State Medical License 2023 - 2024
- AL State Medical License 1994 - 2012
- American Board of Pediatrics Pediatrics
Clinical Trials
- UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Start of enrollment: 2011 Jun 01
Roles: Contact, Principal Investigator, Sponsor-Investigator
Publications & Presentations
PubMed
- Evaluation for genetic disease in kidney transplant candidates: A practice resource.Elizabeth G Ames, Prince M Anand, Mir Reza Bekheirnia, Mona D Doshi, Mireille El Ters
American Journal of Transplantation. 2024-10-31 - Increased risk of kidney failure in patients with genetic kidney disorders.Mark D Elliott, Natalie Vena, Maddalena Marasa, Enrico Cocchi, Shiraz Bheda
The Journal of Clinical Investigation. 2024-09-03 - 1 citationsEstimating risk of rapid disease progression in pediatric patients with autosomal dominant polycystic kidney disease: a randomized trial of tolvaptan.Djalila Mekahli, Lisa M Guay-Woodford, Melissa A Cadnapaphornchai, Stuart L Goldstein, Ann Dandurand
Pediatric Nephrology. 2024-05-01
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