Scientific Advisory Board Members' Bios

The Scientific Advisory Board of the NephCure Foundation consists of nine key researchers in the field. The panel meets periodically to offer advice on scientific matters, plus guides the NephCure board in research-support activities, oversees all patient and public education programs and connects the Foundation to the small, but growing scientific community that deals with Nephrotic Syndrome and FSGS.

Chairman

Lawrence B. Holzman, M.D.

Associate Professor of Internal Medicine
University of Michigan/Nephrology
1150 W. Medical Center Dr.
1560 MSRB II
Ann Arbor, MI 48109-0676
lholzman@umich.edu

Gerald Appel, M.D., Ph.D.

Professor of Clinical Medicine
Director of Clinical Nephrology
Director of the Glomerular Disease Center
Columbia University
Email: nephroman@msn.com

Dr. Appel is a professor of Clinical Medicine and Director of Clinical Nephrology at Columbia University.  He has served as President of the New York Society of Nephrology and on Medical Advisory Boards of the New York-New Jersey branch of the National Kidney Foundation.  Dr. Appel is also the Director of the Glomerular Disease Center at Columbia University which was established to foster the study and treatment of glomerular diseases of the kidney, such as FSGS.  It is a collaborative effort between the Divisions of the Nephrology and Renal Pathology and is based at The Presbyterian Division of the New York Presbyterian Hospital in New York City.  Members of the center join efforts in clinical care, research and education to advance the treatment of these diseases.  In addition, Dr. Appel has published over 250 manuscripts and book chapterRecent Publications:Appel GB. Chapter Glomrulonephritis in Cecil’s Text of Medicine  2007.

Appel GB, Waldman M, Radhakrishnan J. New Approaches to the Treatment of Glomerular Disease. Kidney Int. 70: S45-S50, 2006.

Waldman M, Appel GB. The Course of Adult Minimal Change Disease. – Clinical JASN 2:445-454, 2007.

Appel GB, Pollak M, D’Agati VD. Focal Segmental Glomerulosclerosis. Chater 18 pp 217-230, in  Comprehensive Clinical Nephrology ed by Johnson R, Floege J, Feehaly J. Mosby Elsevier, 2007.

Aggarwal N  , AppelGB. Focal Segmental Glomeruloslcerosis in NKF Primer on Kidney Disease 2008. ed. Greenberg A,Falk R.

Marilyn Gist Faraquhar, Ph.D.

Professor and Chair of Cellular and Molecular Medicine
Professor of Pathology
Department of Cellular and Molecular Medicine
University of California San Diego
CMM-West Room 210
9500 Gilman Drive
La Jolla, CA 92093
Phone: (858) 534-7711
Fax: (858) 534-8549
Email: mfarquhar@ucsd.edu

Dr. Marilyn G. Farquhar is Professor and Chair of Cellular and Molecular Medicine, University of California San Diego. Dr. Farquhar is a cell biologist and experimental pathologist with a long-time interest in the molecular mechanisms of glomerular diseases. Her current research focuses on defining the molecular mechanisms involved in the pathogenesis of glomerular diseases such as nephrotic syndrome. Among her awards are the Homer Smith Award of the American Society of Nephrology, the A. N. Richards award of the International Society of Nephrology, and the Wilson Award of the American Society of Cell Biology.

Ph.D., University of California Berkeley and San Francisco, has held positions as Professor of Pathology at UCSF, Professor of Cell Biology at Rockefeller University, and Sterling Professor of Cell Biology and Pathology at Yale University School of Medicine before joining the faculty at UCSD.

Recent Publications:

Takeda, T., McQuistan, T., Orlando, R. A., and M. G. Farquhar. 2001. Loss of the glomerular foot process organization is associated with uncoupling of podocalyxin from the actin cytoskeleton. J. Clinical Invest. 108:289-301.

Schmieder, S., Nagai, M., Orlando, R. A., Takeda, T., and M. G. Farquhar. 2004. Podocalyzin expression activates RhoA and induces actin reorganization through NHERF1 and ezrin in MDCK cells. J. Amer. Soc. Nephrol. 15(9):2289-2298.

Lehtonen, S., Lehtonen, E., Kudlicka, K, Holthöfer, H., and Farquhar, M. G. 2004. Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney expressing nephrin cells. Amer. J. Pathol. 165(3):923-936.

Friedhelm Hildebrandt, M.D.

Professor of Pediatrics and of Human Genetics
Frederick G.L. Huetwell Professor for the Cure and Prevention of Birth Defects University of Michigan Department of Pediatrics
8220C MSRB III 1150
West Medical Center Drive
Ann Arbor, MI 48109-0640, US
phone: +1 (734) 615-7285 (office)
615-7895, -7896, 763-2406
647-9477, 764-6266 (labs)
fax: +1 (734) 615-1386, -7770
e-mail: fhilde@umich.edu

Dr. Hildebrandt is a Professor of Pediatrics and of Human Genetics at the University of Michigan and the Frederick G.L. Huetwell Professor for the Cure and Prevention of Birth Defects. Dr. Hildebrandt's laboratory focuses on the positional cloning of genes that cause kidney diseases with and without blindness and hearing loss. His laboratory identified four novel genes in the renal cystic disease nephronophthisis with retinitis pigmentosa, linking the disease mechanism to the cellular organelles "primary cilia". His group has mapped and identified additional genes mutated in nephrotic syndrome, in Bartter syndrome with deafness, and kidney developmental defects, thereby elucidating the pathogenesis of disorders of kidney, eye, and the auditory system.

Recent Publications:

Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F . SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 101(21): 8090 – 8095, 2004 May 12.

Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, & Hildebrandt F. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nature Genet 34:413-20, 2003 (editorial pp. 355-356).

Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto EA, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F & Omran H. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nature Genet 34:455-459, 2003 (editorial pp. 355-356).

Frederick J. Kaskel, M.D., Ph.D.

Professor of Pediatrics
Vice Chairman, Affiliate & Network Relations
Chief, Section on Nephrology
Children's Hospital at Montefiore
111 East 210th Street
Bronx, New York 10467-2490
Phone: 718-655-1120
Fax: 718-652-3136
E-mail: fkaskel@aecom.yu.edu; fkaskel@montefore.or

Dr. Frederick Kaskel is a pediatric nephrologist, Chief of the Section of Pediatric Nephrology at the Children’s Hospital at Montefiore, Albert Einstein College of Medicine. His interest in pediatric kidney disease and its causes has led to his involvement during his academic career as an investigator both in the laboratory and in clinical medicine. Currently he is one of 5 principal investigators on the NIH grant: Focal Segmental Glomerulosclerosis Clinical Trial. This is of immense importance to patients with this condition as its goals are twofold: First, to find the best possible treatment for the condition, and, secondly, to identify the mechanisms responsible for its cause(s). In this way, researchers will be able to better understand the molecular mechanisms underlying FSGS in the hope of finding a cure and prevention. Dr. Kaskel stresses the importance of the Clinical Trials to investigators in order to offer hope to our patients and families.

Recent Publications:

Erkan E, Devarajan P, Kaskel FJ. Role of nitric oxide, endothelin-1, and inflammatory cytokines in blood pressure regulation in hemodialysis patients. Am. Journal Kidney Disease, 40(1):76-81, 2002.

Supavekin S, Zhang W, Kucherlapati R, Kaskel FJ, Moore LC, Devarajan P.Differential gene expression following early renal ischemia-reperfusion. Kidney International, 2003 (in press).

Kaskel, FJ. Chronic Renal Disease, A Growing Problem. Nephrology Forum: Kidney International, 2003 (in press).

Peter Mundel, M.D.
Professor, Medicine / Nephrology
Icahn Medical Institute
1425 Madison Avenue
New York, NY 10029
Tel: (212) 659-9332
E-mail: peter.mundel@mssm.edu

Mailing Address:
One Gustave L. Levy Place, Box 1243
New York, NY 10029
Now a professor of medicine/nephrology at Mt. Sinai School of Medicine in New York City, Dr. Mundel received extensive medical training in his native Germany, where he began attracting the attention of his peers with numerous articles and lectures. In 2003, he received the prestigious “Young Investigator Award” from the American Society of Nephrology.
A major focus of Dr. Mundel’s laboratory is the makeup and function of podocytes, key cells found in each of the one million separate filtration units (glomerulus, singular) packed into a single human kidney. Podocytes have octopus-like extensions, called foot processes that wrap around the blood vessels and together with the interposed (slit diaphragm) form a filter that captures waste but leaves important material such as proteins in the blood.

Recently, Dr. Mundel’s team has uncovered an “unanticipated novel role” for a molecule called B7-1, which under certain circumstances can disrupt the podocyte filter and cause the leakage of protein into the urine (proteinuria), one of the symptoms of Nephrotic Syndrome.

Dr. Mundel's lab is currently working on four federally funded research projects and he is the author or co-author of 86 original research articles. He has lectured before prominent science groups throughout the world, from Switzerland to Japan, and he is a member of numerous scientific organizations, including the American Society of Clinical Investigation, and the American Society of Nephrology.

To read about Dr. Mundel in the news, click here...

Recent Publications:

Asanuma K, Yanagida--Asanuma E, Faul C, Tomino Y, Kim K, Mundel P. Synaptopodin orchestrates actin organization and cell motility via regulation of RhoA signalling. Nat Cell Biol 2006 April.

Huber TB, Kwoh C, Wu H, Asanuma K, Godel M, Hartleben B, Blumer KJ, Miner JH, Mundel P, Shaw AS. Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin. J Clin Invest 2006 May; 116(5):1337-1345.

Asanuma K, Kim K, Oh J, Giardino L, Chabanis S, Faul C, Reiser J, Mundel P. Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner. J Clin Invest 2005 May 2; 115(5):1188-1198.

Martin R. Pollak, M.D.

Principal Investigator
Harvard Institutes of Medicine, Room 534
77 Avenue Louis Pasteur
Boston, MA 02115
Email: mpollak@rics.bwh.harvard.edu
Phone: (617) 525-5840
Fax: (617) 525-5841

Andrey S. Shaw, M.D.

Professor of Pathology and Immunology
Washington University
660 South Euclid, Box 8118
Saint Louis, MO 63110
Phone: 314-362-4614
FAZ: 314-747-4888

Shipping Address:
Department of Pathology and Immunology
4940 Parkview Place, CSRB 7721
Saint Louis, MO 63110

Dr. Shaw is currently Professor of Pathology and Immunology at Washington University School of Medicine in St. Louis. He received his M.D. Degree from Columbia University and did his residency in pathology at Yale-New Haven Hospital. He then completed a post-doctoral fellowship in the departments of pathology and cell biology at Yale. He is a member of many professional societies including American Society of Clinical Investigation, American Association of Immunologists, American Society for Investigative Pathology and the American Society for Microbiology. He is currently a member of the NIH Cell and Molecular Immunology Study Section and a past-member of the Board of Scientific Counselors for the National Cancer Institute and the Frederick Cancer Center. Dr. Shaw is currently an editor for the journal, Molecular and Cellular Biology.

Dr. Shaw's work focuses on the role of the protein CD2AP in the podocyte.
His lab cloned CD2AP as a protein important in immune system function but found fortuitously that CD2AP plays a critical role in kidney with mice lacking CD2AP developing nephrotic syndrome at 3 weeks of age and with heterozygous mice developing a pathology similar to FSGS at about 6 months of age. The current work in the laboratory focuses on the role CD2AP plays in the podocyte with current ideas focused on the role of CD2AP in regulating handling of protein by the podocyte.

Recent Publications:

Lee KH, Dinner AR, Tu C, Campi G, Raychaudhuri S, Varma R, Sims TN, Burack WR, Wu H, Wang J, Kanagawa O, Markiewicz M, Allen PM, Dustin ML, Chakraborty A, Shaw AS. The immunological synapse balances T cell receptor signaling and degradation. Science 302:1218-1222, 2003.

Dillon TJ, Karpitski V, Wetzel SA, Parker DC, Shaw AS, Stork PJ. Ectopic B-Raf expression enhances extracellular signal regulated kinase signaling in T cells and prevents antigen-presenting cell-induced anergy. J Biol Chem 278:35940-35949, 2003.

Huber TB, Hartleben B, Kim J, Schmidts M, Schermer B, Keil A, Egger L, Lecha RL, Borner C, Pavenstädt H, Shaw AS, Walz G, Benzing T. Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling. Mol Cell Biol 23:4917-4928, 2003.

Karl Tryggvason, M.D., Ph.D.

Professor
Division of Matrix Biology
Department of Medical Biochemistry and Biophysics 
Karolinska Institutet 
S-171 77 Stockholm 
Sweden 
Phone: +46-(0)8-524 87720
Fax: +46-(0)8-316 165
Email: karl.tryggvason@mbb.ki.se

Karl Tryggvason, M.D., Ph.D., an internationally-recognized researcher specializing in kidney disease from his headquarters in Europe, joined the NephCure Foundation’s Scientific Advisory Board in 2005.

Dr. Tryggvason, a frequent member of the Nobel Committee for physiology and medicine, has a special interest in the basement membrane, a component of the glomerulus, the kidney’s filtering mechanism.

The Iceland citizen has received widespread support for his research, including funding from the European Community, the National Institutes of Health (U.S.), and private companies and foundations. He has held numerous academic posts and since 1994 has been professor of Medical Chemistry, Department of Medical Biochemistry and Biophysics, at the Karolinska Institute in Stockholm, Sweden.

A frequent speaker at major medical conferences world-wide, Dr. Tryggvason has been a reviewer for key medical journals, including Science, Nature, Genomics and the Journal of the American Society of Nephrology. His numerous honors include the Louis-Jeantet Prize in medicine, Geneva, Switzerland, 2002 and membership in the Academia Europaea and the Royal Academy of Sciences, Sweden, both in 2005.

He lists his special research interests as:

"Basement membranes: structural components, function, gene regulation and turnover in normal and pathological states. Genetic basement membrane diseases and degradation of basement membranes in tumor invasion and metastasis. Glomerular filtration barrier and its diseases. Macrophage bacteria-binding MARCO receptor.”

Dr. Tryggvason has been involved in several science-related businesses and is co-founder of NephroGen, Inc. A newspaper last year described the company as a new biotechnology start-up where scientists “are exploring the therapeutic potential of adult stem cells collected from blood to restore kidney function.”

He is married and has three children.

Assistant Professor in the Division of Nephrology
Assistant Research Professor in the Section of Medicine Genetics
Department of Medicine
Center for Human Genetics
DUMC Box 2903
Durham, NC 27710
Phone: 1-919-660-0038
Fax: 1-919-684-0920
E-mail: mwinn@chg.duhs.duke.edu

Dr. Michelle Winn is an Assistant Professor in the Division of Nephrology and Assistant Research Professor in the Section of Medicine Genetics, Department of Medicine. Dr. Winn is a board certified nephrologist. Her research interests include the hereditary diseases of the human kidney. She is currently focusing her research on familial focal segmental glomeruloslcerosis. Her other interests include complex diseases in relation to kidney function such as hypertensive nephropathy, end-stage renal disease and acute renal failure.

M.D., 1992, East Carolina University-School of Medicine, Greenville, North Carolina Residency in Internal Medicine, Duke University Medical School, Durham, NC Fellowship in Nephrology, Duke University Medical Center, Durham, NC

Recent Publications:

Winn MP, Conlon PJ, Lynn KL, Howell DN, Gross DA, Rogala AR, Smith AH, Graham FL, Bembe M, Quarles LD, Pericak-Vance MA, Vance JM. Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. Kidney International 55(4):1241-6, 1999

Winn MP, Conlon PJ, Lynn KL, Howell DN, Slotterbeck BD, Smith AH, Graham FL, Bembe M, Quarles LD, Pericak-Vance MA, Vance JM. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics 58(2):113-20, 1999.

Conlon PJ, Lynn K, Winn MP, Quarles LD, Bembe ML, Pericak-Vance M, Speer M, Howell DN. Spectrum of disease in familial focal and segmental glomerulosclerosis. Kidney International 56(5):1863-71, 1999

Roger Wiggins, M.D.

Professor of Internal Medicine
Chief of Nephrology
University of Michigan Medical Center
Division of Nephrology
3914 Taubman Center
Ann Arbor, MI 48109-0364
Phone: 734/936-5645
Fax: 734/936-9621
Email: rwiggins@umich.edu

Dr. Roger Wiggins is currently Professor of Internal Medicine, and Chief of the Nephrology Division at the University of Michigan Medical Center. He received his M.B. and B. Chir. Degree at the Cambridge University in England and did his residency at London Teaching Hospitals. He then completed his fellowship at Scripps Clinic at La Jolla, CA. Dr. Wiggins research focuses on the prevention of progression of glomerular diseases. This includes a particular focus on the biology of the podocyte and the role of decreased podocyte number in glomerulosclerosis. They have identified and cloned particular podocyte proteins that can be used as markers for understanding podocyte biology, and are constructing various transgenic mouse models to explore the importance of podocyte number. We are also examining the role of the aging process on glomerular biology and learning how this is linked to the remarkable increase in ESRD in later life.

Recent Publications:

Moeller MJ, Sanden SK, Soofi A, Wiggins RC, Holzman LB. Two gene fragments that direct podocyte-specific expression in transgenic mice. J Am Soc Nephrol 13:1561-1567, 2002.

Roh MH, Makarova O, Liu CJ, Shin KY, Lee S, Laurinec S, Goyal M, Wiggins R, Margolis B. The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of crumbs and discs lost. J Cell Biol 157:161-172, 2002.

Kim YH, Goyal M, Kurnit D, Wharram B, Wiggins J, Holzman L, Kershaw D, Wiggins R. Podocyte depletion and glomerulosclerosis have a direct relationship in the PAN-treated rat. Kidney Int 60:957-968, 2001