Rare Diseases

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  Subject Areas on Research

  • A 71-year-old woman with myelofibrosis, hypoxemia, and pulmonary hypertension. 
  • A global reference for human genetic variation. 
  • A permutation procedure to correct for confounders in case-control studies, including tests of rare variation. 
  • A public health framework for rare blood disorders. 
  • A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. 
  • A web-based SNOMED CT browser: distributed and real-time use of SNOMED CT during the clinical research process. 
  • A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. 
  • Accepting risk in the acceleration of drug development for rare cancers. 
  • Adaptive design methods in clinical trials - a review. 
  • An automated communication system in a Contact Registry for persons with rare diseases: tools for retaining potential clinical research participants. 
  • An automated communication system in a contact registry for persons with rare diseases: scalable tools for identifying and recruiting clinical research participants. 
  • An evidence development process for newborn screening. 
  • Aortic subannular left ventricular aneurysm: a rare and surgically correctable cause of angina. 
  • Aquagenic wrinkling: a unique facial presentation. 
  • Challenges and climate of business environment and resources to support pediatric device development. 
  • Characteristics of undiagnosed diseases network applicants: implications for referring providers. 
  • Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. 
  • Coverage of rare disease names in standard terminologies and implications for patients, providers, and research. 
  • Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). 
  • Data sharing in the undiagnosed diseases network. 
  • Developing comparative effectiveness studies for a rare, understudied pediatric disease: lessons learned from the CARRA juvenile localized scleroderma consensus treatment plan pilot study. 
  • Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data. 
  • Drug development in the era of precision medicine. 
  • Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. 
  • Efficacy of the Priority Review Voucher Program. 
  • Extranodal Castleman disease of the extremities: a case report and review of the literature. 
  • Follicular dendritic cell sarcoma of the mediastinum. 
  • Genetic convergence of rare lymphomas. 
  • Hemolytic anemia: a rare but potentially serious adverse effect of captopril. 
  • Hereditary angioedema: the rewards of studying a rare disease. 
  • Hospital Volume Threshold for the Treatment of Retroperitoneal Sarcoma. 
  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. 
  • If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). 
  • Incidental Squamous Cell Carcinoma In Situ in a Large Pharyngoesophageal (Zenker's) Diverticulum. 
  • Incidental urothelial rest within the vermiform appendix of a paediatric male patient: an extremely rare entity. 
  • Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. 
  • Irreversible electroporation in a case of pancreatic leiomyosarcoma: a novel weapon versus a rare malignancy? 
  • Is acute heart failure a highly prevalent orphan disease? 
  • Isavuconazole treatment for rare fungal diseases and for invasive aspergillosis in patients with renal impairment: Challenges and lessons of the VITAL trial. 
  • Isolated Double Orifice Mitral Valve - a Rare Finding in an Elderly Man. 
  • Large mesenteric lymphangioma in an adult patient: an unusual presentation of a rare disease. 
  • Leiomyosarcoma of the adrenal vein: a novel approach to surgical resection. 
  • Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. 
  • Making progress in a rare disease: emerging therapeutics in soft tissue sarcomas. 
  • Malignant giant cell tumor of soft parts. 
  • Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. 
  • Multiseptate gallbladder. 
  • New observation of sialuria prompts detection of liver tumor in previously reported patient. 
  • Nodular Colloid Milium of the Conjunctiva and Anterior Orbit. 
  • Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. 
  • Obstructive sleep apnea (OSA): a complication of acute infectious mononucleosis infection in a child. 
  • Patient registries: utility, validity and inference. 
  • PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases. 
  • Physical and psychological health in rare cancer survivors. 
  • Primary granulocytic sarcoma of larynx. 
  • Proposed 'grant-and-access' program with price caps could stimulate development of drugs for very rare diseases. 
  • Pseudo-tumor of the lung, a rare clinical presentation of dirofilariasis. 
  • Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? 
  • Rare Lesions of the Internal Auditory Canal. 
  • Rare cases of large parapharyngeal lipomas. 
  • Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network. 
  • Research challenges in central nervous system manifestations of inborn errors of metabolism. 
  • Reverse Translation in Advancing Pharmacotherapy in Pediatric Rheumatology: A Logical Approach in Rare Diseases with Limited Resources. 
  • SNOMED CT coding variation and grouping for "other findings" in a longitudinal study on urea cycle disorders. 
  • Sonography in the identification of calciphylaxis of the breast. 
  • Spondyloarthropathy presenting at a young age: case report and review. 
  • Squamous cell carcinoma of the duodenum: an exceedingly rare diagnosis. 
  • Standard terminology on demand: facilitating distributed and real-time use of SNOMED CT during the clinical research process. 
  • Sternal metastasis as first presentation of a well-differentiated papillary thyroid carcinoma. 
  • Strategy for randomised clinical trials in rare cancers. 
  • Subperiosteal orbital hemorrhage complicating cardiac surgery. 
  • The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. 
  • The Impact of Set-Up Uncertainty on Dose-Response Estimates. 
  • The Rare Diseases Clinical Research Network Contact Registry update: features and functionality. 
  • The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. 
  • The continuum of causality in human genetic disorders. 
  • Therapeutic options for variant renal cancer: a true orphan disease. 
  • Toxic colitis with megacolon in a patient with malrotation. 
  • Unilateral luteoma of pregnancy mimicking a malignant ovarian mass on magnetic resonance and ultrasound. 
  • Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis. 
  • Utilizing population controls in rare-variant case-parent association tests. 
  • Variation of SNOMED CT coding of clinical research concepts among coding experts. 
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  Keywords of People

  • Cade, William Todd, Instructor in the Department of Orthopaedic Surgery, Orthopaedics, Physical Therapy
  • Richesson, Rachel L, Associate Professor in the School of Nursing, School of Nursing
  • Zigler, Christina Kelsey, Assistant Professor in Population Health Sciences, Population Health Sciences