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Norrie disease (ND) Registry
Patients with Norrie disease or allelic variants including other congenital bilateral eye conditions; bilateral persistent hyperplastic primary vitreous (PHPV),
X-linked (or unknown inheritance pattern) familial exudative vitreoretinopathy (FEVR), and Coats disease are being sought for participation in a clinical registry through the Harvard Partners Center for Genetics and Genomics and the Neurogenetics DNA Diagnostic Lab, MGH ( www.dnalab.org ). We will enroll cases with or without molecular genetic confirmation. The registry involves completion of a clinical questionnaire and signed consent. If genetic testing has not been done, we do offer genetic testing in our CLIA certified lab.(mutational screening, deletion analysis, linkage)
Goals of the Norrie Registry include attaining a greater understanding of the clinical manifestations and of NDP gene mutations, understanding the clinical course of Norrie disease, and uncovering genotype/phenotype correlations. Further description of ND Registry and contact information are available on the website, or by contacting Katherine Sims, M.D. (ksims@partners.org; 617.726.5718). Your assistance in this project is deeply appreciated!
MGH Fabry Screening Initiative-Research Information
In addition to diagnostic testing, we are currently enrolling patients in research for Fabry Disease screening in “at risk” populations. We will be screening patients with End Stage Renal Disease (ESRD), stroke occurring at <50 years of age, and cardiac abnormalities, including left ventricular cardiac hypertrophy and arrhythmias. We hope to screen over 10,000 patients who are at risk for this disease over the next five years to identify the true prevalence of Fabry in these populations. We are collaborating with other Fabry researchers, including Dr. Raffi Shiffman of the Baylor Institute of Medicine and Dr. Michael Mauer of the University of Minnesota to continue to meet the screening needs of this population. We are pleased to have received foundation support from the Fabry Support and Information Group (FSIG) and we are supporting the diagnostic needs of the Lysosomal Disease Network group, chaired by Dr. Chester Whitley.
Our goals are to increase awareness of Fabry disease risk, particularly in female patients. Due to the difficulty of enzyme screening in female patients, and the cost-prohibition of full gene sequencing, many female patients may not have been identified or fully characterized.