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2017 NORD Rare Summit Poster Abstracts

One of the unique features of the NORD Rare Summit is our expansive poster abstracts exhibit. In 2017, 56 abstracts were submitted with the overall theme of “Life-Transforming Treatments.” The posters listed below cover four themes and were chosen based on the following guidelines.

Submissions under this theme cover any type of research or collaborative initiatives conducted in rare diseases and orphan products.

  • Built for Neurofibromatosis – Ready for Rare Disease: The Children’s Tumor Foundation R&D Sandbox
    The Children’s Tumor Foundation team
  • Direct Injection of Bromelain and N-acetylcysteine into Recurrent, Inoperable, Pseudomyxoma Peritonei Tumors of the Appendix (Summary)
    St. George Hospital, Kogarah, Australia 
  • Repurposing guaiacol for the treatment of adult polyglucosan body disease (APBD) (Summary)
  • Urinary Epidermal Growth Factor and Monocyte Chemoattractant Protein-1 as Biomarkers of Renal Involvement in ANCA-Associated Vasculitis
  • Healthcare and Medical Service Utilization Among Patients with Angelman Syndrome (AS)
  • Newborn Screening for Arginase Deficiency in the U.S. –Where Do We Need to Go? (Summary)
  • An Investigation into the Natural History of Bardet-Biedl Syndrome
    Division of Genetics & Genomis Boston Children’s Hospital
  • Developing an innovative, integrated intervention for developmental synaptopathies
    Rush University Medical Center
    Mayo Clinic College of Medicine
  • The Alabama Genomic Health Initiative: Innovative Research Approach for Healthy Participants and the Rare Disease Community (Press Release)
    University of Alabama at Birmingham 
    Marquette University 
  • “Accurate Quantitative Measurement of Exercise Intolerance in Mitochondrial Myopathy
    Diagnosis and Clinical Trials”
    The Children’s Hospital of Philadelphia 
  • Targeting pulmonary cholesterol homeostasis: repurposing current and investigating new drugs for rare lung disease
    University of Cincinnati Medical Center and Cincinnati Children’s Hospital 
  • Attentional Profile and Executive Functions in Apert Syndrome
    Complutense University of Madrid
  • Toward Developing Patient-Relevant Outcome Measures for Choroideremia Trials (Summary)
    Choroideremia Research Foundation, Inc.
  • A novel PRF1 mutation associated with unusual clinical presentations including progressive atypical lymphoid infiltrate in brain and lungs
    Primary Children’s Hospital
  • Treadmill versus Overgound walking results in decreased variability in temporal gait parameters in Rett syndrome
    Bayor College of Medicine & Texas Children’s Hospital
  • Delayed diagnosis of childhood-onset pulmonary hypertension (PH): A cohort analysis
    Harvard Medical School
  • Interim Findings from the Siblings Voice Survey: Impact of Severe Childhood Epilepsy on Siblings 17 Years of Age or Under (Press Release)
    Zogenix, Inc. 
  • Characterization of disease severity in patients diagnosed with primary hyperoxaluria through family screening
    Mayo Clinic
  • Seizures and KATP Channel Closure in Neonatal Diabetes Mellitus (NDM): Consideration of Carbamazepine
  • Quality of life, caregiver emotional experience, and unmet needs in Zellweger spectrum disorders (ZSD): a qualitative study (Press release)
    The Global Foundation for Peroxisomal Disorders
  • Chronic Hepatocellular Injury and Fibrosis in Urea Cycle Disorders
    Texas Children’s Hospital 
  • Stevens-Johnson Syndrome & Toxic Epidermal Necrolysis
    Keck Graduate Institute School of Pharmacy 
  • Epigenetic insult drives clinical course of orphan disease with aberrant proteins and ceramides that may be attenuated with bioactive lipids (Summary)
    NeuroLipid Research Foundation 
  • Innovating Patient Finding in Rare Disease with Machine Learning
    Symphony Health Solutions 
  • Clinical Utility of Whole Exome Sequencing for the Diagnosis of Rare Diseases (Press Release)
    Prevention Genetics 
  • Personalized Medicine Approach Achieves Prolonged Remission in Idiopathic Multicentric Castleman Disease Patient
    University of Pennsylvania 
  • Examining the high disease burden and impact on quality of life in Familial Chylomicronemia Syndrome
  • Principles for Interactions With Biopharmaceutical Companies: Development of Guidelines for Patient Advocacy Organizations
  • The A-BOM: Collaborating to identify patient-centered biomarkers and outcome measures for Angelman syndrome (Summary)
    Angelman Biomarkers and Outcome Measures Alliance 
  • RaDMed Comprehensive Rare Disease Drug Information Source
  • Blood and Brain Biomarkers of Oxidative Stress and Inflammation in Type 1 Gaucher Disease: Effect of Antioxidant Therapy (Press release)
  • Parietal epithelial cells (PEC) in male patients with Fabry disease (FD) nephropathy (FN)
  • Development of an Innovative Pediatric Rare Disease Center
  • TSC Preclinical Consortium: Facilitating Drug Development Through Collaboration of Patient Advocacy, Industry and Academia
    Children’s Hospital of Pittsburgh of UPMC 
  • Trofinetide, A Novel IGF-1 Related Treatment, Demonstrates Efficacy for Children and Adolescents with Rett Syndrome
  • Arterial Tortuosity Syndrome: 40 new families and literature review
  • The Genetic and Rare Diseases Information Center (GARD): Improving Access to Hard-to-find Rare Diseases Information
    Genetic and Rare Diseases Information Center
  • With the Growing Cost Burden of Orphan Drugs to U.S. and European Payers, Pharmacoeconomic Evidence Takes Center Stage
    Decision Resources Group 
  • NextGeneration Phenotyping: A Performance Analysis of this Innovative Research Platform
    FDNA (Press release)
  • “A Novel Drug Therapy Strategy for Treating Fatty Acid Beta-Oxidation Disorders” (Summary)
    University of Pittsburgh
  • “A seizure: the first piece of the puzzle Neurolupus and Castleman’s like disease: a case report”
  • Beyond Best Practices, Measuring Success in Rare Disease Registries (Summary)
  • Education Advancement and Patient Advocacy Through the Implementation of NORD Student Chapters in a School of Pharmacy
    Keck Graduate Institute-School of Pharmacy 

Submissions under this theme cover public health awareness and education of health care professionals or HCPs in rare diseases and orphan products.

  • The Patient Educator Presentation in Dental Education (Summary)
    International Pemphigus & Pemphigoid Foundation 
  • Rare Disease Education at Scale: Educating 80,000 healthcare professionals (HCPs) about Hunter syndrome in seven weeks (Press release)
    Figure 1 
  • Real World Data Research Readiness: Engaging the Prader-Willi Syndrome Community
    Foundation of Prader-Willi Research 
  • Rare Disease Education: Don’t Forget the Nurses. A Case Study of a Hospital Nurse Uninformed About Rare Disease
    University of South Alabama 

Submissions under this theme cover the advancement of patient education and involvement in the rare disease and orphan product community.

  • Revealing the power of the rare disease community with state-of-the-art collaborative, trustworthy, digital education software (Press release)
    rareLife Solutions 
  • The unbearable weight of being rare: Results from the first national survey among people living with rare diseases in China (Press release)
  • “Building a Patient Community: Rare Genomics re-launches RareShare, a rare disorder social network” (Press release)
    Rare Genomics

The submissions under this theme still relate to the overall topic of rare diseases and orphan products but do not fit within the themes previously listed.

  • Necessary Relationships: The Effect of Pharmaceutical Relationships on Rare Disease Patient Advocacy Organizations (Summary)
    University of Colorado Denver
  • Strategic Planning for Rare Disease in the Scientific Community (Summary)
  • VHL Patient Natural History Study
    VHL Alliance 
  • The First Five Years: CBER’s Use of Breakthrough Therapy Designation to Advance Products for Rare Diseases (Summary)
    US Food and Drug Administration 
  • Shouldn’t Patient Registries Be Attractive to Patients?: Implementing Thoughtful Technology for Richer Data (Press release)
    The Life Raft Group 
  • The impact of patient crowdfunding in funding rare disease research through BeHEARD (helping to empower and accelerate research discoveries), a global rare disease science competition.
    Rare Genomics Institute 
  • Social Media in Rare Disease: The role of Facebook in advocacy and research for DDX3X syndrome
    Clinic for Special Children