Pediatric Nephrology has very active bench, clinical and translational research activities with six clinical faculty, two tenure track basic science faculty and over 30 additional research assistants, students and support personal.
David Berrey Kershaw MD
Clinical Interests: Transplantation, hypertension, glomerulonephritis and nephrotic syndrome.
Research Interests: I have an ongoing interest in transplant therapeutics and am currently site PI for an international multicentered trial using everolimus. In the field of hypertension I have worked with Dr. Yoon on the study of hypertension management and am working on the development of the AAP Eqipp Hypertension program to move appropriate care into practice. I have a long standing interest in podocyte biology and glomerular disease and am Co-Medical Director on The NephCure Board of Directors.
Debbie Sue Gipson, MD
Clinical researcher with expertise in clinical trials and quality of life measures in chronic disease. Much of my research focuses on interventions in Nephrotic Syndrome and measurements of patient reported outcomes in Chronic Kidney Disease and Dialysis.
Rebecca Mary Lombel, MD
I have an interest in clinical research and have published in the area of acute kidney injury, fluid overload and renal replacement therapy in critically ill pediatric patients. I continue to pursue this subject of interest and collaborate with other faculty members in both the pediatric and adult nephrology divisions. As a junior faculty member, I am working to foster additional areas of research including medical education and transplant protocols. I have a strong interest in quality improvement and the process surrounding transitions of care.
Weibin Zhou, PhD.
The goal of my research is to study the pathogenic mechanisms and therapies of kidney diseases using zebrafish pronephros (embryonic fish kidney) and mesonephros (adult fish kidney) as a model system. I am currently focusing on three research projects:
1. We have generated a transgenic zebrafish model of inducible podocyte injury, which can mimic human nephrotic phenotypes in embryonic and adult zebrafish, and have established a new transgene-based functional assay for zebrafish renal glomerular barrier. These new tools render the zebrafish as a novel model system for kidney research. We will apply these transgenic models that we have established for high-throughput screenings for therapeutical chemical compounds that protect podocytes from damages, study podocyte regeneration, and isolate novel nephrotic zebrafish mutants. In addition, using recently developed modified nuclease techniques (TALEN and CRISPR), we have generated targeted knock-out zebrafish models for nephrotic syndrome.
2. Small GTPases activities play critical roles in podocyte function, and abnormal small GTPase activities have been associated with human glomerulopathy. We have generated a transgenic model of light-inducible activation of Rac1 in zebrafish podocytes. Such model will be used to search for compounds that can ameliorate nephrotic phenotype and podocyte damage due to abnormal Rac1 activation.
3. Most recently, we have discovered mutations in FAN1 (Fanconi anemia-associated nuclease 1) as the genetic causes of karyomegalic interstitial nephritis (KIN) and generated a zebrafish model for this rare inherited kidney disease. FAN1 is required for repairing inter-strand crosslinking of DNA and in FAN1-deficient animals DNA damage repair is abnormal. Therefore, one of my ongoing projects is to study the role of genotoxin and genetic deficiency in DNA damage repair in the pathogenesis of inherited and chronic kidney diseases.
Matthew Sampson, MD, MSCE
I am an Assistant Professor in the Department of Pediatrics and Communicable Diseases, Division of Pediatric Nephrology at the University of Michigan. I am also the co-chairman of the Genetics and Genomics Working Group of the Nephrotic Syndrome Study Network (NEPTUNE) cohort. My interest is in discovering new genes, biological pathways, and signaling networks that are important in nephrotic syndrome's
(1) etiology and (2) progression of poor clinical outcomes. By discovering these, we can aid in diagnosis, prediction of natural history, and identification of targets for drug development that can help improve the outcomes of this disease.
In collaboration with Hyun Min Kang, Goncalo Abecasis (both at the UM Center for Statistical Genetics), Matthias Kretzler, and Edgar Otto, my lab utilizes whole genome technologies, combined with statistical genetics, computational genetics, and bioinformatics methods to elucidate the role of genomic variation in nephrotic syndrome. We are also building software and web applications that allow clinician scientists and others to more easily use genomic data for their research projects.
In collaboration with Dr. Kang, we are using whole genome and targeted exon sequencing and exome chip genotyping data from subjects with nephrotic syndrome and the 1000 Genomes Project to discover disease-associated variants and define functional genomic elements. We are also developing generalizable genomic variant mapping tests that can be used across diseases and recently published a method to predict pathogenicity of genetic variants based on strength of negative selection.
As part of NEPTUNE, I have also established a working group focused on the Ethical, Legal, and Societal Implications (ELSI) of genomics research involving bioethicists, genetic counselors, nephrologists, and study coordinators.
At Mott Children’s Hospital, I work closely with our clinical research coordinators and basic science collaborators to identify those children with likely genetic basis of their disease for inclusion in research studies and disease-based registries. I utilize my formal training in genetic epidemiology and expertise in the genomics of renal disease to determine whether genetic testing is warranted, the choice of which method to utilize, interpretation of variants found, and communication of the results to families.
Neal Blatt, MD, PhD
Junior faculty member whose research examines the interplay between kidney disease and immune function. I study both how citrate anticoagulation (used for continuous hemodialysis circuits and the storage of blood products) and how a mouse model of kidney failure impact the function of monocytes and lymphocytes."
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