Leland McSpadden Memorial Fund

Leland McSpadden, son of LSA founder Kaye McSpadden, was born in 1978 and diagnosed with Lowe syndrome when he was about eight months old.  Leland inspired Kaye to reach out to other families who had children with the same condition. In 1981 she wrote a letter to the Exceptional Parent magazine which yielded responses from about six families. By the summer of 1982 a newsletter was begun and in 1983 the LSA was officially organized.  Sadly, Leland died on June 5, 2000 at the age of 22 from neurological complications of Lowe Syndrome.

In recognition of the unique role that Leland played in the creation of the LSA, the Board of Directors voted to name the LSA’s research fund the “Leland McSpadden Memorial Fund for Medical and Scientific Research.”

An online copy of the LSA Research Brochure is available for download in PDF format (visit the Lowe Syndrome section, and click ‘Publications’).

Request for Proposals

Through funds made available from the Leland McSpadden Memorial Fund for Medical and Scientific Research, the LSA is able to periodically solicit proposals for research grants by interested scientific and medical researchers.

While many criteria are used to judge research proposals, of primary concern to the LSA Board of Directors and its Medical and Scientific Advisory Board is to achieve a better understanding of the metabolic basis of Lowe syndrome and develop a better understanding and better treatments for the major complications of Lowe syndrome.

Grants are awarded up to $25,000 for one year, subject to LSA Board
approval.

When available, grants will be posted on the NORD website.


VIEW THE GUIDELINES

Previous Research Grant Awards

$5,000

1988

Refined gene mapping, carrier detection, and prenatal diagnosis of the Oculo-Cerebro-Renal Syndrome of Lowe

Richard A. Lewis, M.D., Baylor College of Medicine.

Read more »
Refined gene mapping, carrier detection, and prenatal diagnosis of the Oculo-Cerebro-Renal Syndrome of Lowe

Richard A. Lewis, M.D., Baylor College of Medicine.

$7,000

1989

Refined gene mapping, carrier detection, and prenatal diagnosis of the Oculo-Cerebro-Renal Syndrome of Lowe

Richard A. Lewis, M.D., Baylor College of Medicine.

Read more »
Refined gene mapping, carrier detection, and prenatal diagnosis of the Oculo-Cerebro-Renal Syndrome of Lowe

Richard A. Lewis, M.D., Baylor College of Medicine.

$6,000

1993

Development of renal tubule cell lines from patients with Lowe’s syndrome

Lorraine C. Racusen, M.D., Johns Hopkins University School of Medicine.

Read more »
Development of renal tubule cell lines from patients with Lowe’s syndrome

Lorraine C. Racusen, M.D., Johns Hopkins University School of Medicine.

$5,000

1993

An in situ and immunocytochemical localization of OCRL-1 gene product in human and mouse tissue

Lawrence Charnas, M.D., Ph.D., St. Mary’s Hospital Cancer Research Institute.

Read more »
An in situ and immunocytochemical localization of OCRL-1 gene product in human and mouse tissue

Lawrence Charnas, M.D., Ph.D., St. Mary’s Hospital Cancer Research Institute.

$2,000

1996

Refined gene mapping (cont’d), carrier detection, and prenatal diagnosis of the Oculo-Cerebro-Renal Syndrome of Lowe, and to defray costs to families for molecular and biochemical analyses of the OCRL gene/enzyme

Richard A. Lewis, M.D., Baylor College of Medicine.

Read more »
Refined gene mapping (cont’d), carrier detection, and prenatal diagnosis of the Oculo-Cerebro-Renal Syndrome of Lowe, and to defray costs to families for molecular and biochemical analyses of the OCRL gene/enzyme

Richard A. Lewis, M.D., Baylor College of Medicine.

$15,000

1999

Phosphoinositide Pathway in Regulation of Ion Transport Phenomena in a Renal Distal Tubule Cell Line

Bonnie Blazer-Yost, Ph.D., Biology Department, Indiana University/Purdue University in Indianapolis, IN.

Read more »
Phosphoinositide Pathway in Regulation of Ion Transport Phenomena in a Renal Distal Tubule Cell Line

Bonnie Blazer-Yost, Ph.D., Biology Department, Indiana University/Purdue University in Indianapolis, IN.

$15,000

1999

Establishing a Reliable and Accurate Molecular Method for Lowe Syndrome Carrier Screening

Ti Lin, Ph.D., formerly of the Georgetown University Medical Center, currently at the National Institutes of He... Read more »

Establishing a Reliable and Accurate Molecular Method for Lowe Syndrome Carrier Screening

Ti Lin, Ph.D., formerly of the Georgetown University Medical Center, currently at the National Institutes of Health in collaboration with Johns Hopkins Bayview Medical Center.

$15,000

1999

Dissecting the Phosphatidylinositol System in C. elegans

Dewey Royal, Ph.D., Department of Molecular Biology and Biochemistry at Rutgers University.

Read more »
Dissecting the Phosphatidylinositol System in C. elegans

Dewey Royal, Ph.D., Department of Molecular Biology and Biochemistry at Rutgers University.

$15,000

2000

Stable Expression of the OCRL1 Gene in Renal Epithelial Cells: Models for Studying the Localization, Regulation and Metabolic Role of the OCRL1 Protein

Bonnie Blazer-Yost, Ph.D., Biology Department, Indiana University/Purdue University in Indianapolis, IN.

Read more »
Stable Expression of the OCRL1 Gene in Renal Epithelial Cells: Models for Studying the Localization, Regulation and Metabolic Role of the OCRL1 Protein

Bonnie Blazer-Yost, Ph.D., Biology Department, Indiana University/Purdue University in Indianapolis, IN.

$30,000

2002

Phosphatidylinositol 4-Kinase, Pik1, Shuttles Between the Nucleus and the Cytosol: Exploring the Physiological Function of PtdIns[4]P Generation in the Nucleus

Jeremy W. Thorner, Ph.D., Department of Molecular and Cell Biology, University of California/Berkeley.

Read more »
Phosphatidylinositol 4-Kinase, Pik1, Shuttles Between the Nucleus and the Cytosol: Exploring the Physiological Function of PtdIns[4]P Generation in the Nucleus

Jeremy W. Thorner, Ph.D., Department of Molecular and Cell Biology, University of California/Berkeley.

$30,000

2002

Genetic Suppressors of 5-Phosphatase Mutants in C. Elegans

Erik M. Jorgensen, Ph.D., and Kimberly R. Schuske, Ph.D., Department of Biology, University of Utah.

Read more »
Genetic Suppressors of 5-Phosphatase Mutants in C. Elegans

Erik M. Jorgensen, Ph.D., and Kimberly R. Schuske, Ph.D., Department of Biology, University of Utah.

$25,000

2003

Continuation of the project funded by the 2002 grant

Erik M. Jorgensen, Ph.D., and Kimberly R. Schuske, Ph.D., Department of Biology, University of Utah.

Read more »
Continuation of the project funded by the 2002 grant

Erik M. Jorgensen, Ph.D., and Kimberly R. Schuske, Ph.D., Department of Biology, University of Utah.

$25,000

2005

Studying the role of OCRL-1 in endocytic pathways in immortalized human cell lines and in proximal tubular cells from patients with Lowe syndrome

Maria Antonietta DeMatteis, M.D., Head of the Laboratory of Physiopathology of Secretion within the Department ... Read more »

Studying the role of OCRL-1 in endocytic pathways in immortalized human cell lines and in proximal tubular cells from patients with Lowe syndrome

Maria Antonietta DeMatteis, M.D., Head of the Laboratory of Physiopathology of Secretion within the Department of Cell Biology and Oncology in Consorzio Mario Negri Sud, Chieti, Italy

$20,000

2007

Study of OCRL function in renal epithelial membrane traffic

Ora A. Weisz, Ph.D., Associate Professor, Departments of Medicine (Renal-Electrolyte Division) and Cell Biology... Read more »

Study of OCRL function in renal epithelial membrane traffic

Ora A. Weisz, Ph.D., Associate Professor, Departments of Medicine (Renal-Electrolyte Division) and Cell Biology and Physiology, University of Pittsburgh School of Medicine in Pittsburg, PA.

$20,000

2007

Structural studies of the Lowe syndrome protein, OCRL1

Yuxin Mao, Ph.D., Department. of Cell Biology and HHMI, Yale University School of Medical in New Haven, CT.

... Read more »
Structural studies of the Lowe syndrome protein, OCRL1

Yuxin Mao, Ph.D., Department. of Cell Biology and HHMI, Yale University School of Medical in New Haven, CT.

$24,000

2008

Phase I: Scope, development, electronic design and rollout of the 2008 Comprehensive Study on Lowe Syndrome

Zelig S. Dolinsky, Ph. D. Biomedical Research Consultant, Manchester, CT

Read more »
Phase I: Scope, development, electronic design and rollout of the 2008 Comprehensive Study on Lowe Syndrome

Zelig S. Dolinsky, Ph. D. Biomedical Research Consultant, Manchester, CT

$25,000

2008

Cell Biology of the Lowe syndrome protein, OCRL1

Pietro De Camilli, M.D., Department. of Cell Biology and HHMI, Yale University School of Medical in New Haven, ... Read more »

Cell Biology of the Lowe syndrome protein, OCRL1

Pietro De Camilli, M.D., Department. of Cell Biology and HHMI, Yale University School of Medical in New Haven, CT.

$25,000

2008

Study of OCRL function in renal epithelial membrane traffic

Ora A. Weisz, Ph.D., Associate Professor, Departments of Medicine (Renal-Electrolyte Division) and Cell Biology... Read more »

Study of OCRL function in renal epithelial membrane traffic

Ora A. Weisz, Ph.D., Associate Professor, Departments of Medicine (Renal-Electrolyte Division) and Cell Biology and Physiology, University of Pittsburgh School of Medicine in Pittsburg, PA

$18,500

2009

Phase II: Analysis and reporting of the 2008 Comprehensive Study on Lowe Syndrome

Zelig S. Dolinsky, Ph. D. Biomedical Research Consultant, Manchester, CT

Read more »
Phase II: Analysis and reporting of the 2008 Comprehensive Study on Lowe Syndrome

Zelig S. Dolinsky, Ph. D. Biomedical Research Consultant, Manchester, CT

$25,000

2010

Study of Dissecting the Function of Drosophila OCRL in Neuronal Endosomal Traffic

Avital Rodal, Ph.D., Associate Professor, Rosenstiel Basic Medical Sciences Research Center, Brandeis Universit... Read more »

Study of Dissecting the Function of Drosophila OCRL in Neuronal Endosomal Traffic

Avital Rodal, Ph.D., Associate Professor, Rosenstiel Basic Medical Sciences Research Center, Brandeis University, Waltham, MA

$25,000

2011

Study of Characterization of a novel protein interaction surface of the Lowe Syndrome phosphatase OCRL

Laura E. Swan, Ph.D., Department of Cell Biology, Yale University School of Medical in New Haven, CT.

Read more »
Study of Characterization of a novel protein interaction surface of the Lowe Syndrome phosphatase OCRL

Laura E. Swan, Ph.D., Department of Cell Biology, Yale University School of Medical in New Haven, CT.

$25,000

2012

Continuation of the project funded by the 2010 grant

Avital Rodal, Ph.D., Associate Professor, Rosenstiel Basic Medical Sciences Research Center, Brandeis Universit... Read more »

Continuation of the project funded by the 2010 grant

Avital Rodal, Ph.D., Associate Professor, Rosenstiel Basic Medical Sciences Research Center, Brandeis University, Waltham, MA

$25,000

2013

Study of Lowe Syndrome and RhoGTPase Signaling Abnormalities: Therapeutic Opportunities

Antonella De Matteis, MD, Programme Director of Cell Biology of Genetic Diseases, Telethon Institute of Genetic... Read more »

Study of Lowe Syndrome and RhoGTPase Signaling Abnormalities: Therapeutic Opportunities

Antonella De Matteis, MD, Programme Director of Cell Biology of Genetic Diseases, Telethon Institute of Genetics and Medicine (TIGEM) Via Pietro Castellino, 111 Napoli, 80131 Italy

$75,000

2013

Study of Animal Models in Lowe Syndrome

Robert L. Nussbaum, M.D., Chief, Division of Medical Genetics, Department of Medicine and the Institute for Hum... Read more »

Study of Animal Models in Lowe Syndrome

Robert L. Nussbaum, M.D., Chief, Division of Medical Genetics, Department of Medicine and the Institute for Human Genetics, University of California, San Francisco Box 0794, 513 Parnassus Ave, San Francisco, CA

$25,000

2013

Study of Role of OCRL1 in flow sensing by proximal tubule cells

Ora A. Weisz, Ph.D., Associate Professor, Departments of Medicine (Renal-Electrolyte Division) and Cell Biology... Read more »

Study of Role of OCRL1 in flow sensing by proximal tubule cells

Ora A. Weisz, Ph.D., Associate Professor, Departments of Medicine (Renal-Electrolyte Division) and Cell Biology and Physiology, University of Pittsburgh School of Medicine in Pittsburg, PA

$25,000

2013

Study of Congenital Glaucoma of Lowe Syndrome: 3-dimensional model of intracellular trafficking in glaucoma pathogenesis

Yang (“Young”) Sun, M.D., Ph.D. , Assistant Professor of Ophthalmology, Biochemistry and Mol... Read more »

Study of Congenital Glaucoma of Lowe Syndrome: 3-dimensional model of intracellular trafficking in glaucoma pathogenesis

Yang (“Young”) Sun, M.D., Ph.D. , Assistant Professor of Ophthalmology, Biochemistry and Molecular Biology in Eugene Marilyn Glick Eye Institute of Indiana University School of Medicine, Indianapolis, IN

$25,000

2013

Study of the Mechanism of action of correctors of endocytic defects induced by OCRL depletion

Antonella De Matteis, MD, Programme Director of Cell Biology of Genetic Diseases, Telethon Institute of Genetic... Read more »

Study of the Mechanism of action of correctors of endocytic defects induced by OCRL depletion

Antonella De Matteis, MD, Programme Director of Cell Biology of Genetic Diseases, Telethon Institute of Genetics and Medicine (TIGEM) Via Pietro Castellino, 111 Napoli, 80131 Italy

25,000

2014

Role of the OCRL1 in flow sensing by proximal tubule cells

Ora A. Weisz, Ph.D., Associate Professor, Departments of Medicine (Renal-Electrolyte Division) and Cell Biology and Physio... Read more »

Role of the OCRL1 in flow sensing by proximal tubule cells

Ora A. Weisz, Ph.D., Associate Professor, Departments of Medicine (Renal-Electrolyte Division) and Cell Biology and Physiology, University of Pittsburgh School of Medicine in Pittsburg, PA.

Medical and Scientific Advisory Board

Elahna Paul, MD, PhD
Mark R. Benfield, M.D.
Pediatric Nephrology
Eileen D. Brewer, M.D.
Pediatric Nephrology
Richard Alan Lewis, M.D., M.S.
Ophthalmologist
Van Miller, M.D., Ph.D.
Pediatric Neurology
Robert L. Nussbaum, M.D.
Medical Genetics
David Tesini, D.M.D., D.S.
Pediatric Dentistry
Sharon F. Suchy, Ph.D., F.A.C.M.G.
Inherited Metabolic
Disorders
Steven Wassner, M.D.
Pediatric Nephrology
and Hypertension
Philip Zeitler, M.D., Ph.D.
Pediatric Endocrinology