TOTAL FOR GRANTS: $1,623,525.20

February 2010

Brain-Deprived Neurotrophic Factor in Prader-Willi Syndrome and MC4R Function-Altering Mutations
Joan C. Han, M.D., Senior Clinical Fellow, Unit on Growth and Obesity, Jack A. Yanovski, M.D., Ph.D., Head, Unit on Growth and Obesity Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH

February 2010

Leptin Resistance in Mouse Models of Hyerphagia
Rachel Wevrick, Ph.D., Department of Medical Genetics, University of Alberta

September 2010

Probing Genes for Hyperphagia in Rare Obesity-related Syndromes
Merlin Butler, M.D., Ph.D., Kansas University Medical Center in collaboration with Dan J. Driscoll, Ph.D., Professor Pediatrics and Genetics, Departments of Pediatrics, Molecular Genetics and Microbiology, University of Florida, College of Medicine, Jan Marshall, B.A., Senior Professional Assistant at the Jackson Laboratory and the Genetics Coordinator of Alstrom Syndrome, Randi J. Hagerman, M.D., Medical Director, University of California-Davis, M.I.N.D. Institute and Professor of Pediatrics, Endowed Chair in Fragile X Syndrome Research

September 2010

Abnormal Proteins Drive the Hyperphagia in Prader-Willi Syndrome
Barbara Whitman, Ph.D. & Susan Myers, M.D., Department of Pediatrics, St. Louis University School of Medicine in collaboration with Yie-Hwa Chang, Ph.D., Department of Biochemistry, St. Louis University School of Medicine

April 2011

Transcranial Direct Current Stimulation (tDCS) & Startle Modulation to Evaluate Hyperphagia in PWS
Dr. Merlin G. Butler and Dr. Albert Poje at the University of Kansas School of Medicine, Kansas City, Kansas; in collaboration with Dr. Filipe Fregni at Harvard University, Boston, Massachusetts

July 2012

A Pig Model for Hyperphagia and Obesity in PWS
Robert Nicholls, D.Phil – Children’s Hospital of Pittsburgh

July 2012

Nutritional Aspects of Prader-Willi Syndrome and Childhood Obesity: Understanding the Shift from Failure-To-Thrive to Hyperphagia
Daniel J. Driscoll, MD, PhD — Principle investigator ; Jennifer Miller, MD, MS – Co-Investigator

August 2012

Metabolic Risks Associated With Antipsychotic Medication Use In Patients With Prader-Willi Syndrome
Gregory Cherpes, M.D. — Principle investigator; Jennifer Padden Elliott, Pharm.D. — Co-Investigator

December 2012

Pilot study examining swallowing function in persons with Prader-Willi Syndrome
Principle Investigator: Roxanne Diez Gross, Ph.D.. CCC/SLP Co-Principle Investigator: Gregory Cherpes, M.D.

The Children’s Institute, Pittsburgh PA

September 2013

Fellowship Award
Ann Manzardo, Ph.D.

September 2013

Fellowship Award
Fred Kweh, Ph.D.

September 2013

Fellowship Award
Matthew Daily, Ph.D.

December 2013

Oxytocin In Prader-Willi Syndrome
P.I Jennifer Miller, M.D./multi site study


Characterization of esophageal transport and the effect of saliva swallows vs. liquid swallows to clear pharyngeal and esophageal stasis in persons with Prader-Willi Syndrome
Principle Investigator: Roxanne Diez Gross, Ph.D.

The Children’s Institute, Pittsburgh, PA

March, 2014

Children’s Hospital of Pittsburgh Foundation

“Pig Model”
Dr. Robert Nicholls

June, 2015

Telehealth Intervention of Early Social Cognitive – Case Western Reserve University
Anastasia Dimitropoulos, Ph.D.

August, 2015

Prevalance of Dysphagia/Reflux Contributing Factor – University of Florida
Karla Au Yueng, M.D.


Stipend/Support Research Students interested in PWS

Ted Kimball (Under Direction of Dr.Merlin Butler, M.D., Ph.D.)

December, 2015

Male Caregiver Study

Leon Caldwell, Ph.D.

The Annie E. Foundation in Baltimore, MD


Oxytocin Study – Ongoing
Dr. Jennifer Miller, M.D., M.S. – University of Florida

February, 2015

Study of Mortality – DVT/PE Risk Factors
Ann Manzardo, Ph.D.

Kansas University Medical Center


Hormone Secretion Deficits in PWS – Children’s Hospital of Pittsburgh Foundation

Dr. Robert Nicholls

March, 2015

DMCC Database 2nd Year – University of Florida

Jeffrey Krischer, Ph.D.

Health Informatics Institute, University of Florida, Tampa, FL

March, 2015

Clinical Trials Consortium
Nathalie Kayadjarian, Ph.D.

TOTAL FOR GRANTS: $1,095,011

July 2000

Orthopaedic Manifestations of Prader-Willi Syndrome
Dr. R. Tracy Ballock, University Hospitals of Cleveland

July 2000

Open Pilot Study of Topiramate in Adults with Prader-Willi Syndrome
Dr. Nathan A. Shapira, University of Florida

October 2000

Neuroanatomical Correlates of Hunger Satiation in Subjects with PWS using Positron Emission Tomography
Dr. Susan Sell, University of Alabama

August 2001

Neuroanatomical Correlates of Hunger and Satiation in Patients with PWS (using functional MRI before and after treatment with Topiramate)
Dr. Nathan A. Shapira, University of Florida

December 2003

Effect of Somatostatin on Ghrelin Concentrations, Food Seeking Behavior, and Weight in Patients with PWS
Dr. Jean-Pierre Chanoine

July 2004

The Use of Psychotropic Medications in Prader-Willi Syndrome
Elisabeth M. Dykens Ph.D., Vanderbilt University, TN

December 2004

Causes of Death in Prader-Willi Syndrome
Dr. David A. Stevenson, University of Utah

April 2005

The Use of Psychotropic Medications in Prader-Willi Syndrome
Elisabeth M. Dykens Ph.D., Vanderbilt University, TN

March 2005

Functional Magnetic Resonance Imaging of Reduced Satiety in Prader-Willi Syndrome and Obesity
Dr. Daniel J. Driscoll, Ph.D., Dr. Anthony Goldstone, Ph.D., Dr. Jennifer Miller, University of Florida

December 2005

The Expression and Regulation of Necdin in the Mouse Central Nervous System: Relation to Hyperphagia
Dr. Teresa Reyes, Scripps Research Institute, FL

December 2005

Impact of Dietary Content upon Gastrointestinal Motility in Individuals with PWS
Drs. Wm. Klish and Ann Scheimann , Baylor College of Medicine, TX

January 2007

Expressions of Four Genes Between Chromosome 15 Breakpoints BP1 and BP2 in Subjects with PWS
Douglas Bittle, Ph.D., Merlin Butler, M. D., Children’s Mercy Hospital

January 2007

Gonadal Function in Infants, Adolescents and Young Adults with Prader-Willii Syndrome
Varda Gross-Tsur, M.D. Israel Hirsch,
Shaare Zedek Medical Center, Jerusalem

December 2007

Genetic Underpinnings of Restricted Repetitive Behavior
Soo-Jeong Kim, M.D.

December 2007

Development of a Microsphere Suspension Assay for the High Throughput Screening of Prader-Willi Subjects
Heather Newkirk, Ph.D.

April 2008

Autistic Symptomatology in PWS: Examining Behavioral and Neurobiological Similarities between PWS and Autism Spectrum disorders
Anastasia Dimitropoulos, Ph.D.


Impact of PWS on Healthy Siblings & Quality of Life for Caregivers
Mary Mazaheri, M.S., Ph.D. candidate

February 2009

Role of snoRNAs in Prader-Willi Syndrome
Stefan Stamm, Ph.D., Department of Molecular and Cellular Biochemistry, Univ. of Kentucky, College of Medicine


Rare Disease Clinical Research Consortium – a five year commitment to support research fellows committed to PWS research
PWS Consortium for the RDCRN at NIH


To bring together researchers from multiple rare disorders around the world dealing with the hunger and tremendous drive to consume food
International Hyperphagia Conference, Baltimore, MD


PWS Research Strategy Workshop
Theresa Strong, Ph.D., University of Alabama at Birmingham

Total for Grants: $82,057

July 1990

Diagnostic Criteria
Dr. Vanja Holm, University of Washington

January 1991

Classification Study
Dr. Susan Cassidy, University of Arizona

July 1991

Psychotropic Medication Drug Study
Drs. Greenswag & Whitman, University of Iowa and University of St. Louis

July 1992

Pulmonary Function and Exercise in PWS
Dr. Cloutier, University of Connecticut

July 1994

PWS Cancer Research
Dr. Coppes, University of Calgary

January 1995

Central Autonomic System Study
Dr. DeMario, University of Connecticut

June 1996

Inprinted Genes in PWS
Dr. Wevrick, University of Alberta

August 1997

The Development of Behavioral Problems and Eating Disorders in Children with PWS
Dr. Anastasia Dimitropoulos, Vanderbilt University

October 1997

Assessment of Excessive Daytime Sleepiness in Patients with Prader-Willi Syndrome
Dr. Gila Hertz

July 1998

Relationship Between Obesity and Risk for Diabetes in Subjects with Prader-Willi Syndrome
Dr. Susan Sell, University of Alabama

October 1999

Neuroanatomical Correlates of Hunger Satiation in Subjects with PWS using Positron Emission Tomography
Dr. Susan Sell, University of Alabama

Total for Grants: $23,755

June 1983

Behavior Management Study
Oakwood Residence Minnesota

June 1986

Orofacial and Dermatolglyphic Characteristics in Patients with PWS
Dr. Pool, et al, University of Connecticut

June 1987

Bone Disease Study
Drs. Favus & Walzak, University of Chicago

June 1988

Twelve Hour Study of Nocturnal Growth Hormone Secretion of PWS
Drs. Costiff & Ruvalcabra, University of Washington

July 1989

Exercise Program for PWS
Drs. Moores & Nostrom, Minnesota

December 1989

Psychotropic Medication Drug Study
Drs. Greenswag & Whitman, University of Iowa and St. Louis University