• ACPMP with funding from the Appendix Cancer/Pseudomyxoma Peritonei Research Foundation:
  • Shyh-Dar Li, PhD, University of British Columbia (Vancouver, Canada)
    Modulation of Tumor Immune Microenvironment for Enhanced Therapy of Pseudomyxoma Peritonei
  • Konstantinos Votanopoulos, MD, PhD, Wake Forest University (Winston-Salem, NC)
    Immune system enhanced appendiceal cancer organoids for ex vivo determination of immunotherapy efficacy in appendiceal cancer
• Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV) with funding from The David Ashwell Foundation, Alveolar Capillary Dysplasia Association and William Akers, Jr. & Georgia O. Akers Private Foundation, Inc.:
  • Csaba Galambos, M.D., Ph.D., University of Colorado Denver (Aurora, CO)
    The role of serotonin signaling in the pathogenesis of alveolar capillary dysplasia
• Familial Hypercholesterolemia with funding from the estate of Eleanor M. Allen:
  • Richard Sherwood, PhD, Brigham and Women’s Hospital (Boston, MA)
    Optimizing predictable CRISPR/Cas9 repair of LDLR frameshift mutations
• Cat Eye Syndrome with funding from the Kate Obstgarten Family Foundation, Lundbeck and public donations:
  • Thomas Liehr, Dr. rer. nat./med. habil, Dr. h.c., Friedrich Schiller University Jena (Jena, Germany)
    Establishment of next-generation phenotyping in cat eye syndrome patients
• Malonic Aciduria with funding from The Hope Fund:
  • Anthony J. Filiano, Ph.D., Duke University (Durham, NC)
    Replacing Brain Enzymes with Cells: Implications for Malonic Aciduria
  • Michael Wolfgang, PhD, Johns Hopkins University School of Medicine (Baltimore, MD)
    Genetic and biochemical interaction of Mlycd and Acsf3 in vivo
• New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) with funding from the NORSE Institute:
  • Eric Payne, MD, MPH and Charles Howe, PhD, Mayo Clinic (Rochester, MN)
    NLRP3 inflammasome dysfunction as a cause for FIRES and NORSE
• PACS1-Related Syndrome (Schuurs-Hoeijmakers Syndrome) with funding from the founders of the PACS1 Syndrome Research Foundation and public donations:
  • Gary Thomas, PhD, University of Pittsburgh (Pittsburgh, PA)
    Development of therapeutics to treat PACS1-Related Syndrome
• Post-Orgasmic Illness Syndrome with funding from POISCenter.com:
  • Tierney Lorenz, Ph.D., University of Nebraska-Lincoln (Lincoln, NE) Tierney Lorenz, PhD, University of Nebraska-Lincoln (Lincoln, NE) and Nicole Prause, PhD (Los Angeles, CA)

    Autonomic, endocrine, and immune mediators of Post-Orgasmic Illness Syndrome

Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV) with funding from The David Ashwell Foundation, Alveolar Capillary Dysplasia Association and William Akers, Jr. & Georgia O. Akers Private Foundation, Inc.:

• Arun Pradhan, PhD, Cincinnati Children’s Hospital Medical Center (Cincinnati, OH); Development of FOXF1-activating small molecule compound for the treatment of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV)
  • Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins is a lethal congenital disorder of lung capillaries for which there are no treatments available, except lung transplantation. The aim of this project is to develop small molecule compound that can stabilize the expression of FoxF1 transcription factor which is mutated in ACD/MPV infants in order to improve the formation of lung vasculature and prolong patient’s survival.

Appendix Cancer and Pseudomyxoma Peritonei (PMP) with funding from the Appendix Cancer/Pseudomyxoma Peritonei Research Foundation:

• J. Silvio Gutkind, PhD, University of California, San Diego (La Jolla, CA); Exploiting Systems Vulnerabilities in the Appendix Cancer and Pseudomyxoma Peritonei Oncogenome
• D. Scott Merrell, PhD, Uniformed Services University of the Health Sciences (Bethesda, MD); Role of bacteria in the development and progression of pseudomyxoma peritonei
  • Bacteria play roles in health and disease that were completely under-appreciated only a few years ago.  Our previous pseudomyxoma peritonei (PMP) pilot studies suggest that bacteria can be found in/on PMP tumors. To expand on that work, we seek to define the bacteria present in a large collection of PMP samples and to determine if those bacteria differ depending on the type/severity of disease and/or patient outcome. If bacteria are present and are associated with disease, these studies may set the stage for future inclusion of antibiotics into PMP treatment strategies.

• Marc Pocard, MD, PhD, Institut national de la santé et de la recherche médicale (Inserm), (Paris, France); P.A.T.R.ol 4 Cure – Pseudomyxoma Angiogenesis Translational Research Testing 4 anti-angiogenic drugs with animal models for PMP to propose a cure
  • The antiangiogenic drugs, a new anticancer family drugs, decrease the new vessels formation and control cancer progression. The project proposes to evaluate 4 drugs of these family for efficiency and secondary effects, on laboratory pseudomyxoma models, to help doctors to offer new treatment for patients.
• Traci L. Testerman, PhD, University of South Carolina School of Medicine (Columbia, SC); Novel animal models for the study of PMP etiology and treatment
  
  • Our collaborative team of Pseudomyxoma peritonei (PMP) cancer researchers has discovered that PMP tumors contain many species of bacteria.  When cultured with tumor cells in the laboratory, some of these species cause tumor cells to grow more rapidly and protect them from being killed by chemotherapy, while others are harmful to tumor cells.  Our funding from NORD will be used to test these bacterial species in a mouse model of PMP to determine whether eliminating certain bacteria from patients or altering the types of bacteria present in tumors could improve the success of PMP treatment.

Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV)

(with support funding raised by The David Ashwell Foundation and The Alveolar Capillary Dysplasia Association)

• Przemyslaw Szafranski, Ph.D.
  Baylor College of Medicine, Houston, TX
  Modeling ACDMPV therapies by targeting negative regulators of FOXF1 and genes outside the SHH pathway.
  • Recently we identified several genes whose variants might contribute to ACDMPV. One of the goals of our research is to verify the involvement of these genes in lung pathology. This work will improve diagnostics of ACDMPV, and will direct future research on ACDMPV therapies. The other goal is to verify our hypothesis that targeting for depletion of certain inhibitors of FOXF1 expression might increase level of FOXF1 in embryonic lung endothelium and thus prevent development of ACDMPV.

Appendix Cancer and Pseudomyxoma Peritonei (PMP)

(with support funding raised by the Appendix Cancer Pseudomyxoma Peritonei Research Foundation) 

• David L. Morris, MD, Ph.D.
  St. George Hospital, Australia
  The effect of Bromelain and N-acetylcysteine on appendiceal adenocarcinoma and pseudomyxoma peritonei in vitro and LS174T in vivo: development of a novel mucolytic agent and progression to a phase I/II study.
  • Many cancers produce a protective coat called mucin and removing this interferes with growth of the cancer and makes it more sensitive to chemotherapy. We developed a drug, a combination of Bromelain and N-Acetylcysteine (Br/NAC), that dissolves this mucin, enabling us to kill certain cancer cells with or without the addition of a chemotherapy. Our current study will look at how well this discovery works in appendiceal tumours and also study how effective hyperthermic intraperitoneal chemotherapy is in killing abdominal tumour cells following cytoreductive surgery.

Autoimmune Polyglandular Syndrome Type 1 (APS Type 1)

(with support funding raised by the APS Type 1 Foundation)

• Maureen A. Su, M.D.
  University of North Carolina at Chapel Hill, Chapel Hill, NC
  Thymus transplantation for APS1
  • APS1 results from a defect within the thymus gland, an organ that teaches the immune system how not to injure itself. Without normal thymus gland function in APS1, the immune system attacks normal tissues and causes autoimmune disease. This proposal will use a mouse model of APS1 to try to fix the defect immune education through thymus transplant.

Homocystinuria due to Cystathionine Beta-Synthase Deficiency

(with support funding raised from public donations)

• Warren D. Kruger, Ph.D.
  The Research Institute of Fox Chase Cancer Center, Philadelphia, PA
  Combining Bimoclomol and Bortezomib to treat CBS deficiency
  
  • Cystathionine beta synthase deficiency is a rare inborn error of metabolism caused by mutations in the CBS gene. Most of these mutations cause the production of mutant proteins that do not assume the proper 3D structure. In this project we will be testing a novel combination of drugs that effect protein folding to see if they can tweak the mutant CBS proteins to assume the correct 3D structure.

Malonic Aciduria

(with support funding raised from The Hope Fund, Lundbeck “Raise Your Hand” Campaign, and public donations)

• Michael J. Wolfgang, Ph.D.
  Johns Hopkins University School of Medicine, Baltimore, MD
  Regulation of mitochondrial metabolism by Malonyl-CoA Decarboxylase and Malonyl-CoA Synthetase
  • Our goal is to determine the roles of Malonyl-CoA Decarboxylase and Malonyl-CoA Synthetase in the metabolism of malonic acid, determine novel roles of malonyl-CoA in mitochondrial biochemistry, and determine the sources of mammalian malonic acid.

Stiff Person Syndrome

(with support funding raised by the Lundbeck “Raise Your Hand” Campaign and public donations) 

• Sarah Crisp, MB Bchir, Ph.D.
  University College London, United Kingdom
  Identification of Pathogenic Autoantibodies in Stiff Person Syndrome
  • Stiff person syndrome (SPS) is disabling neurological condition causing muscle rigidity and painful spasms. Evidence suggests that SPS is caused by the immune system mistakenly attacking nerve cells in the brain or spinal cord. Antibodies to nerve cells (specifically “GAD65 antibodies”) are detected in the blood of most SPS patients. However, it is not clear whether or how these antibodies cause the disorder, particularly since the target of GAD65 antibodies is inside nerve cells and therefore inaccessible to antibodies without prior damage to cells. It is therefore likely that other antibodies are the primary cause of SPS in some patients, and their presence or absence could explain the variable severity, disease course and treatment response between individuals. This project aims to seek evidence of disease-causing antibodies and identify their targets. Target identification will facilitate the development of novel tests to diagnose SPS, reducing delays to diagnosis and treatment.

Creutzfeldt-Jakob Disease (CJD)

(With support funding raised by the Kate Obstgarten Family Foundation and public donations)

Title: Analysis of anti-PrP Antibodies as a pilot study in Prion Protein mutation carriers

Two years grant
Primary Investigator:  Adriano Aguzzi, MD, PhD

Professor and Director, Institute of Neuropathology

University of Zurich, Switzerland

*Research efforts are directed towards finding therapeutically effective drugs against prion diseases originating from naturally occurring autoantibodies.

Pseudomyxoma Peritonei (PMP)

(With support funding raised by PMP Research Foundation)

A. Title: “Developing a Novel Drug Delivery Platform for Targeting Hyaluronan expression in pseudomyxoma peritonei through human sample analysis and in vivo studies”

Two years grant
Primary Investigator:  Wilbur B. Bowne, MD, FACS
Co-investigator:  Hao Cheng, Assistant Professor

Drexel University, College of Medicine
Philadelphia, PA

*Proposal focuses on developing a novel drug delivery system that will expand and improve current and future treatment options to eradicate PMP. Comprised a collaborative translational research team from the laboratories of Dr. Wilbur Bowne – Associate Professor in the Department of Surgery, Drexel University College of Medicine and Dr. Hao Cheng – Assistant Professor, Materials Science and Engineering, Drexel University.

B. Title: “Cure4PMP – genomic biomarkers and actionable targets”

One year grant

Primary Investigator: Kjersti Flatmark, MD PhD

Radium Hospital, Oslo University Hospital

Norway

*Any substantial improvement of PMP treatment is likely to be derived from increased understanding of disease mechanisms and therapy response. The current project will contribute to this by providing essential initial support to move samples forward to molecular analysis, generation of relevant hypotheses, and testing of hypotheses in experimental models. Results from the study aim to qualify for long-term funding for PMP research, to ultimately fulfill the overreaching goal of providing more effective treatment and better quality of life for PMP patients.

Alveolar Capillary Dysplasia (ACD)

(With support raised from The David Ashwell Foundation, William & George Akers Private Foundation, Alveolar Capillary Dysplasia Association and public donations)

Title: “Characterizing the FOXF1 gene network in lung development”

Two years grant
Primary Investigator:  Partha Sen, PhD
Co-investigator:  Aaron Hamvas MD
Northwestern University

*Aim of project to help understand the role of FOXF1 in ACD and in lung development, along with the development of other organ systems. Overall understand the genetic basis of ACD that may lead to therapeutic developments of this deadly disorder.

Homocystinuria due to Cysathionine Beta-Synthase Deficiency

(With support raised from public donations)

Title: “High throughput measurement of Homocysteine, the marker for Homocystinuria, in the routine newborn screening panel by direct injection”

One year grant
Primary Investigator:  Prof. Yair Ankster, M.D. Ph.D.
Sheba Medical Center

Ramat Gan, Israel

*Study aims to describe and utilize for the first time a new method for early detection of Homocystinuria.

Lysosomal Storage Diseases 

(With support raised from public donations)

Title: “Correction of Mucopolysaccharidosis type 1: Targeting safe harbor loci using genome editing”

Two years grant
Primary Investigator:  Natalia Gomez-Ospina
Stanford University
Stanford, CA

*Dr. Gomez-Ospina is committed to dedicating her research efforts towards improving the treatment of children with MPSI and other lysosomal storage disorders. The funding from NORD will accelerate her cellular and mouse studies which will help generate data to make competitive application for NIH funding including K08, R21 and eventual R01 funding. The long-term objective of the proposed project is to develop a safer, more effective treatment for MPSI.

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of six research grants in December 2014.  The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV)

(With funding raised in coordination with the Alveolar Capillary Dysplasia Association and The David Ashwell Foundation)

Csaba Galambos

Children’s Hospital Colorado and University of Colorado Denver
Role of Pericytes and Platelet-Derived Growth Factor-Beta Signaling in the Pathogenesis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV)

Przemyslaw Szafranski

Baylor College of Medicine
Towards designing ACDMPV therapy: Deciphering epigenetic regulation of FOXF1

Autoimmune Polyglandular Syndrome Type 1 (APS Type 1)

(With funding raised in coordination with the patient organization, the APS Type 1 Foundation)

Mark Anderson

University of California San Francisco Diabetes Center
Stem Cell Derived Human Thymus for the Study of APS1

Primary Orthostatic Tremor

(Made possible by donations from the OT Resource patient community and a grant from Lundbeck, Inc., and its Raise Your Hand to Fight Rare Diseases campaign)

Aparna Wagle Shukla, MD

University of Florida
rTMS Therapy for Primary Orthostatic Tremor: A Novel Treatment Approach

Pseudomyxoma peritonei (PMP)

(With funding by the PMP Research Foundation)

Steven Katz and Cherif Boutros

Roger Williams Medical Center and University of Maryland School of Medicine
T cell Immunotherapy for Pseudomyxoma Peritonei

Venkatesh Govindarajan

Creighton University
Targeted Parallel Pathway Blockade as a Treatment Option for Pseudomyxoma Peritonei

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of nine research grants in December 2013.  The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:

Adult Primary Lateral Sclerosis (PLS)

(Made possible by donations from the patient community and a grant from Lundbeck, Inc.)

Catherine Lomen-Hoerth, M.D., Ph.D.

University of California, San Francisco
The Efficacy of Intrathecal Baclofen for Spasticity of Primary Lateral Sclerosis

Dubowitz Syndrome

(Made possible by donations from the patient community and a grant from Lundbeck, Inc.)

Two awards:

Zhiyuan Shen, M.D., Ph.D.

Rutgers Cancer Institute of New Jersey
Identification of the Genetic Defects in Dubowitz Syndrome

A. Micheil Innes, M.D., FRCPC

Faculty of Medicine, University of Calgary
Establishing a Framework to Facilitate Phenotypic Delineation and Gene Identification in Dubowitz Syndrome

Glycine Encephalopathy (Nonketotic Hyperglycinemia)

(Made possible by donations from the patient community)

Johan Van Hove, M.D., Ph.D.

University of Colorado, Denver
Variant Nonketotic Hyperglycinemia: From Genetic Diagnosis to Curative Treatment

Growth Failure in Children with Cardiofaciocutaneous Syndrome (CFC)

(Funded by the patient group, CFC International)

Pilar L. Magoulas, M.S., C.G.C.

Baylor College of Medicine
Growth Assessment in Individuals with CFC Syndrome

Post-Orgasmic Illness Syndrome (POIS)

(Funded by the patient group, the POIS Forum)

Barry R. Komisaruk, Ph.D.

Rutgers University
Is POIS a case of Vagal Dystonia?: An fMRI Brain Activity Analysis

Pseudomyxoma Peritonei (PMP)

(Funded by the patient group, PMP Research Foundation)

Three awards:

Andrew M. Lowy, M.D.

Moores Cancer Center
University of California, San Diego
Targeting Core Signaling Networks in Mucinous Adenocarcinoma of the Appendix

Peter Thomas, Ph.D.

Creighton University
Carcinoembryonic Antigen – A Pro-Angiogenic Factor in Pseudomyxoma Peritonei – is a Potential Target for Therapy

Venkatesh Govindarajan, Ph.D.

Creighton University
PMP: Biologic Foundations for New Treatment Options

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of five research grants in May 2012 and seven additional grants in November 2012. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:

Alveolar Capillary Dysplasia

(Funded by the patient groups, Alveolar Capillary Dysplasia Foundation and The David Ashwell Foundation)

Two awards:

Partha Sen, PhD

Baylor College of Medicine
To Investigate the Role of FOXF1 in Lung Development, Particularly with Respect to Alvelar Capillary Dysplasia and Misalignment of Pulmonary Veins

Przemyslaw Szafranski, PhD

Baylor College of Medicine
Long Noncoding RNAs as Potential Diagnostic and Therapeutic Targets in Patients with Alveolar Capillary Dysplasia

APS Type 1 (Autoimmune Polyendocrine Syndrome, Type 1)

(Funded by the patient group, APS Type 1 Foundation)

Anthony Shum, MD, Mickie H. Cheng, MD, PhD, Mark S. Anderson, MD, PhD

University of California, San Francisco (UCSF Diabetes Center)

In conjunction with:

Eystein S. Husebye, MD, PhD

University of Bergen, Norway
Development of Pre-Clinical tools for the Diagnosis and Management of APS Type 1

Congenital Hyperinsulism in Neonates and/or Children

(Funded by the Mario Batali Foundation)

Diva de León, MD

Children’s Hospital of Philadelphia
The Effect of GLP-1 Receptor Antagonism on Protein-Induced Hypoglycemia in K_ATPHI

Primary Immune Thrombocytopenia in Adults

Nichola Cooper, MD

Imperial College, London, UK
Redefining the Autoimmune Response in Primary ITP

Pseudomyxoma Peritonei

(Funded by the patient group, PMP Research Foundation)

Two awards:

EdwardA. Levine, MD

Wake Forest University
Genomic analysis of Pseudomyxoma Peritonei and Cancer of the Appendix

Shegeki Sekine, MD, PhD

National Cancer Center Researcher Institute, Tokyo, Japan
Significance of a Novel Genetic Alteration in Pseudomyxoma Peritonei

Congenital Skeletal Abnormalities Associated with Cat Eye Syndrome or Other Rare Chromosomal Disorders

Two one-year awards:

Kerby C. Oberg, MD, PhD

Associate Professor
Divisions of Human Anatomy and Pediatric Pathology
Loma Linda University, California
Characterization of the Lmx1b Regulatome During Limb Abnormalities

Francesa Mariani, PhD

Assistant Professor
Broad Center for Regenerative Medicine and Stem Cell Research, Department of Cell and Neurobiology
University of Southern California
Molecular Basis of Split Hand-Foot Malformations (SHFMs)

Primary Orthostatic Tremor

(funded by the group OT Resource)

Two one-year awards:

Sabine Meunier, MD, PhD

Neurologist, Senior Researcher
Movement Disorders Clinic, Pitié-Salpêtrié Hospital
Paris, France
Is Cerebellum a Potential Therapeutic Target for Primary Orthostatic Tremor?

Julian Rodrigues, MBBS, FRACP

Australian Neuromuscular Research Institute
Perth, Western Australia
Pregabalin for the Treatment of Primary Orthostatic Tremor

Tarlov Cyst Disease

(Funded by the Tarlov Cyst Disease Foundation)

One one-year grant:

Kieran Murphy, MB, BCh, FRCPC, FSIR **Principal Investigator

Professor & Vice Chair, Medical Imaging
Deputy Chief, Medical Imaging, University Health Network,Mt Sinai Womens’ Hospital
Director, International Medical affairs, University Health Network, Toronto Western Hospital
University of Toronto, Ontario, Canada
A Genetic Analysis of  Patients with Tarlov Cyst Disease
Co-Investigators:

Chantal Morel, MD, FRCPC, FCCMG

Clinical and Metabolic Geneticist
Assistant Professor
University Health Network/ Mount Sinai Hospital
Toronto, Ontario, Canada

Jordan Lerner-Ellis, PhD, FACMG

Director, Laboratory for Advanced Molecular Diagnostics, Mount Sinai Hospital
Assistant Professor, University of Toronto
Department of Laboratory Medicine and Pathobiology
Toronto, Ontario, Canada

Aaron Goldman, PhD

Director, Research Project Portfolio
Clinical Genomics Center — Gene Profiling Facility
Samuel Lunenfeld Research Institute
Mount Sinai Hospital
Toronto, Ontario, Canada

Josh Silver, MSc, CGC, CCGC

Certified Genetic Counselor
Fred A. Litwin Family Centre in Genetic Medicine
University Health Network / Mount Sinai Hospital
Toronto, Ontario, Canada

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of seven research grants in December, 2011. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:

Adenoid Cystic Carcinoma (ACC)

Funded in part by the patient group, Adenoid Cystic Carcinoma Organization International

Diana Bell, MD

MD Anderson Cancer Center
Houston, TX
Comparative Analysis of the Biological and Molecular Differences in Microdissected Myoepithelial and Epithelial Cells in Adenoid Cystic Carcinoma

Corticobasal Degeneration

Henry Houlden, MD, PhD

The National Hospital for Neurology and Neurosurgery
Queen Square
London, UK
Next Generation Sequencing and mRNA Expression in Corticobasal Degeneration to Improve diagnosis and Developing an Expression-Based Biomarker

Diffuse Scleroderma/Systemic Sclerosis

Silvia Laura Bosello, MD, PhD

Catholic University of Sacred Heart, Complesso Integrato Columbus
Rome, Italy
B-Cells in Systemic Sclerosis: From Pathogenesis to Therapy

Pseudomyxoma Peritonei (PMP) three grants

Funded by the patient group, PMP Research Foundation)

Marcello Deraco, MD

Fondazione IRCSS Instituto Nazionale Tumore (National Cancer Institute)
Milano, Italy
Pseudomyxoma Peritonei: Prognostic Analysis of Micro-RNA and Other Biological Factors Using Tissue Microarray

Andrew M. Lowy, MD

University of California, San Diego
Sequencing the Cancer Genome of Mucinous Adenocarcinoma of the Appendix

Andrew G. Renehan, MB ChB, PhD

University of Manchester, The Christie NHS Foundation
Manchester, UK
Preclinical Targeting of the Goblet Cell Differentiation Pathway in Pseudomyxoma Peritonei

Trimethylaminuria

One award, funded by the patient group, Trimethylaminuria Foundation

Danielle R. Reed, PhD/ George Preti, PhD

Monell Chemical Senses Center
University City Science Center
Philadelphia, PA
Revisiting TMAU Through Exome Sequencing

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of six research grants in November 2010. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:

Autoimmune Polyglandular Syndrome (APS) Type 1

Funded by the patient organization APS Type 1

Mark S. Anderson, MD, PhD; Mickie Cheng, MD, PhD; Anthony Shum, MD

Diabetes Center, University of California/San Francisco Novel Translational Biomarkers in the Diagnosis and Management of APS Type 1

Homocystinuria, Due to Cystathione Beta-synthase Deficiency

Ruma Banerjee, PhD

University of Michigan School of Medicine, Ann Arbor
Hydrogen Sulfide and Homocystinuria

Larsen Syndrome

Robert M. Campbell, Jr, MD; John P. Dormans, MD,

Children’s Hospital of Philadelphia
Larsen Syndrome: Risk Factors for Thoracic Insufficiency Syndrome

Pseudomyxoma Peritonei

Three awards, funded by the patient organization, PMP Research Foundation

Zong Sheng Guo, PhD

University of Pittsburgh Cancer Institute
Treating Pseudomyxoma Peritonei Using Small Molecule Inhibitors of Gel-forming Mucin Production

Robert Miller, MD; Aaron A. Mansfield, MD; Â Julian Molina, MD, PhD; Fernando Quevedo, MD

Mayo Clinic, Rochester, MN
Translational Biology of Pseudomyxoma Peritonei

Brendan Moran, MD, FRCS; Alex Mirzezami, MD, PhD, FRCS

National Pseudomyxoma Peritonei Center
Basingstoke and North Hampshire Hospital, NHS Trust Foundation, Basingstoke, UK
Cancer Research UK Center
Southampton General Hospital, Southampton, UK
MicroRNA Profiling of Clinically Different Pseudomyxoma Peritonei Phenotypes

Stiff Person Syndrome

Made possible by donations from the patient community and a grant from Lundbeck, Inc.

Eric Lancaster, MD, PhD

University of Pennsylvania
Auto-Antigen Profiling in Stiff Person Syndrome

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of seven research grants in November 2009. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:

Arteriovenous Malformation

Susan Y. Bookheimer, PhD; Neil Martin, MD

UCLA School of Medicine, Center for Cognitive Neurosciences
Los Angeles, California
Mapping Language Reorganization in AVM Patients with fMRI and Intraoperative Corticography

Essential Thrombocythemia

Alison R. Moliterno, MD

Johns Hopkins University School of Medicine, Baltimore, Maryland
Genetic Basis of Essential Thrombocytosis

Olivopontocerebellar Atrophy

Two awards

Puneet Opal, MD

Northwestern University, Chicago, Illinois
Cellular Basis of SCA1

Jeremy D. Schmahmann, MD

Massachusetts General Hospital, Boston, Massachusetts
Diffusion MRI Biomarkers of Cerebellar Circuits and Connections in SCA1 Mouse

Pseudomyxoma Peritonei

Three awards, with funding by the PMP Research Foundation

Marc Pocard, MD PHD (In Honor Of Mel R.Kurtz)

The National Institute of Medical Research
Angiogenesis and Translational Research Department
Paris, France
Development of Animal Models for the Study of Pseudonyxome and Evaluation of the Role of Anti-Angiogenesis in the Control of this Tumor.

Andrew Renehan, MD (In Honor Of Dutch Culbertson and Jerry Lewandowski)

The Christie NHS Foundation Trust, University of Manchester
Manchester, United Kingdom
The Development and Global Gene Characterization of an Immortalized Pseudomyxoma Peritonei Cell Culture System for Pre Clinical Testing of Anti-tumor Therapies

Herbert J. Zeh III (In Honor Of Dutch Culbertson and Jerry Lewandowski)

University of Pittsburgh Medical Center
Pittsburg, Pennsylvania
Clonal Analyses of Pseudomyxoma Peritonei (PMP) to Identify Novel Targets for Personalized Therapy

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of seven research grants in November 2008. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:

Alveolar Capillary Dysplasia

Partha Sen, PhD

Baylor College of Medicine
Genotyping and VEGF188 Expression Study for Further Understanding of the Molecular Basis and Pathophysiology of ACD

Autoimmune Polyglandular Syndrome (APS) Type 1

Two grants, with funding from APSType1.org

Daniela Cihakova, MD, PhD

Johns Hopkins University
Chronic Candidiasis Develops in the Absence of Normal Aire Function Due to a Defect in the Induction of IL-17 by Dendritic Cells

Matthias Wabl, PhD

University of California, San Francisco
Hypermutation as a Cause of Autoimmunity in Aire Deficiency

Olivopontocerebellar Atrophy and Related Disorders

Two grants

Henry Houlden, MD, PhD

Institute of Neurology, London
The Identification and Characterization of Disease Genes and Risk Factors that Predispose to Multiple System Atrophy (MSA)

Puneet Opal, MD, PhD

Northwestern University
Molecular Pathways Underlying SCA1 Degeneration

Tarlov Cysts

With funding from the Tarlov Cyst Disease Foundation

Anne Louise Oaklander, MD, PhD

Massachusetts General Hospital/Harvard Medical School
Early Detection of Risk Factors for Tarlov Cysts and Their Complications

Tyrosinemia Type 1

With support from JoshuasCure.org and Danielle Barckett Fund

Eugene Swenson, MD, PhD

Yale University School of Medicine
Bone Marrow Mesenchymal Stem Cell Transplantation for Hereditary Tyrosinemia Type 1

NORD’s Medical Advisory Committee has recommended, and the NORD Board of Directors has approved, the awarding of seven research grants in November 2007. The patient organizations that funded the grants (when applicable), investigators, their institutions, and their projects are as follows:

Cat Eye Syndrome

Heather McDermid, PhD

University of Alberta, Canada
Understanding Cat Eye Syndrome by the Development of a Mouse Model

Hereditary Tyrosinemia

Robert M. Tanguay, DSc

Université Laval, Canada
Gene Expression and Liver Cancer in Herditary Tyrosinemia

Kearns Sayre Syndrome

Ronald G. Haller, MD

University of Texas Southwestern Medical Center
Mitochondrial Aconitase: a Measure of Oxidative Stress in Kearns Sayre Syndrome.

Thrombotic Thrombocytopenic Purpura

Mary Ann Knovich, MD

Wake Forest University Health Sciences
Rapid determination of ADAMTS13 Activity and Inhibitiors in Patients with Suspected Thrombotic Thrombocytopenic Purpura

Adenoid Cystic Carcinoma

Christopher Moskaluk, MD, PhD

University of Virginia
Prediction of Chemotherapy Response in Adenoid Cystic Carcinoma by Gene Expression Profiling

SCA 1

Punett Opal, MD, PhD

Northwestern University
Molecular Basis of SCA 1

Moyamoya Syndrome

Mustafa Sahin, MD, PhD

Children’s Hospital of Boston
Genome Wide Linkage Analysis of Moyamoya Syndrome Using High Density Single Nucleotide Polymorphism (SNP) Genotyping Arrays

Sarah Ying, MD

Johns Hopkins University School of Medicine
A Novel Clinical and Research Tool for the Diffusion-Tensor Magnetic Resonance Imaging Evaluation of Coherent White Matter Tracts in the Brainstem and Cerebellum