Dr. Sims is Director of Residency Training and the Clinical Services for the Division of Child Neurology at Massachusetts General Hospital [MGH], Director of the MGH Developmental Neurogenetics Clinic and Founding Director of the MGH Neurogenetics DNA Diagnostic Laboratory. Her principal clinical and research interests have been directed to heritable neurogenetic disorders. Work in the molecular neurogenetics of Norrie disease lead to the cloning of the Norrie disease gene and subsequent studies of norrin protein function in retinal and brain development. Clinical phenotypic characterization and natural history work continues through the Norrie Disease Registry and genotype-phenotype correlation studies continue in her molecular genetics laboratory.
Dr. Sims is the founding Director of the MGH Neurogenetics DNA Diagnostic Lab. This molecular DNA service lab was started in 1994 to provide clinical DNA testing services in rare neurogenetic disorders and to accelerate translation of neuromolecular data from MGH/Partners research labs to the clinical arena. Testing is now done for >20 neurodegenerative disorders and this lab serves as national and international resource, often the only lab nationally or internationally doing clinical testing for the rarer disorders. The lab continues to expand its services by about 20% each year both in volume and diseases served. Annual volume is about 1500 cases currently. The lab continues to facilitate research lab referral in atypical cases of interest to these labs. Tailored services are available for protocol development and activation for Partners research labs. Specialized individual family/gene analysis services are offered. CLIA certification is maintained. The lab serves as a teaching site for both the Harvard Molecular Genetics and Molecular Pathology fellowship programs. The lab is available for Partners Neurology and Genetics rotations.
Dr. Sims is currently funded for clinical work in the lysosomal storage disorders, Gaucher and Fabry disease, aimed at better characterizing the phenotypic variability and natural history of these disorders and in the evaluation of therapies including enzyme replacement therapy. Lysosomal diseases educational projects are also currently funded.
Mitochondrial disorders are a relatively newly recognized category of human disease. these can appear in infancy, childhood and well into adulthood. Their manifestations can be protean, they are progressive and are usually multi-organ in expression. The mitochondria plays a central role in a number of metabolic pathways critical to cellular energy production, organ function and health. This organelle is bi-genomic and many mtDNA clinical syndromes and a few nDNA disorders have been characterized to date although the pathophysiology of even the best understood of these remains obscure. Dr. Sims and her collaborators have begun a Mitochondrial Disease Registry and Tissue Bank. Current clinical studies aim to better characterize clinical phenotypes and disease progression, to develop and evaluate clinical diagnostic tools and develop methods for assessment of treatment efficacy. Collaborative efforts involve a number of clinical researchers in other Harvard Hospital departments including those in neurology, cardiology and endocrinology.
Dr. Sims is Director of the Developmental Neurogenetics [DNG] Clinic and of the Mitochondrial Disorders Clinic, at MGH. These clinics serve as a local, regional and national/international resource for the diagnostic evaluation of genetic neurodegenerative disorders for both pediatric and adult patients and their families. In addition to evaluation of diagnostic dilemmas, specialized care is delivered to patients and families with the lysosomal storage disorders, including Fabry, Gaucher, Pompe, Hunter-Hurler and Neuronal Ceroid Lipofucsinoses [NCL] diseases, Norrie disease, leukodystrophies, neurometabolic and mitochondrial disorders. This latter group of disorders is increasingly an area of care and expertise and an independent clinic has just been started to service patient needs. From the wide variety of clinical syndromes initially evaluated, the DNG Clinic serves to triage patients particularly to other specialized MGH clinics including: Tuberous Sclerosis [TSC], Von Hippel Lindau [VHL], Movement Disorder, Dystonia and other Neurology clinics. The clinic is staffed by Dr. Sims, a nurse geneticist and nurse coordinator, both supervised by Dr. Sims.
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