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Dr. Reimer specializes in treatment of lysosomal storage disorders that affect the nervous system. He has been practicing as a neurologist for over 20 years. He has a particular interest in Fabry disease and Gaucher disease.
Reimer Lab interestsA primary interest of our lab is to understand how nerve cells make and recycle neurotransmitters, the small molecules that they use to communicate with each other. In better defining these processes we hope to achieve our long-term goal of identifying novel sites for treatment of diseases such as epilepsy and Parkinson Disease. In our studies on neurotransmitter metabolism we have focused our efforts on transporters, a functional class of proteins that move neurotransmitters and other small molecules across membranes in cells. Transporters have many characteristics that make them excellent pharmacological targets, and not surprisingly some of the most effective treatments for neuropsychiatric disorders are directed at transporters. We are specifically focusing on two groups of transporters vesicular neurotransmitter transporters that package neurotransmitters into vesicles for release, and glutamine transporters that shuttle glutamine, a precursor for two major neurotransmitters glutamate and GABA, to neurons from glia, the supporting cells that surround them. We are pursuing these goals through molecular and biochemical studies, and, in collaboration with the Huguenard and Prince labs, through physiological and biosensor based imaging studies to better understand how pharmacological targeting of these molecules will influence neurological disorders. A second interest of our lab is to define mechanism underlying the pathology of lysosomal storage disorders. Lysosomes are membrane bound acidic intracellular organelles filled with hydrolytic enzymes that normally function as recycling centers within cells by breaking down damaged cellular macromolecules. Several degenerative diseases designated as lysosomal storage disorders (LSDs) are associated with the accumulation of material within lysosomes. Tay-Sachs disease, Neimann-Pick disease and Gaucher disease are some of the more common LSDs. For reasons that remain incompletely understood, these diseases often affect the nervous system out of proportion to other organs. As a model for LSDs we are studying the lysosomal free sialic acid storage disorders. These diseases are the result of a defect in transport of sialic acid across lysosomal membranes and are associated with mutations in the gene encoding the sialic acid transporter sialin. We are using molecular, genetic and biochemical approaches to better define the normal function of sialin and to determine how loss of sialin function leads to neurodevelopmental defects and neurodegeneration associated with the lysosomal free sialic acid storage disorders.
The Effect of Exercise on Muscle Dysfunction in Cystinosis
Classification of activity tolerance is of importance in chronic progressive myopathies, not
only to better understand functional implications of the disease state itself, but also for
purposes of exercise prescription for health maintenance. Maximal exercise testing has been
considered as the gold standard of assessing maximal aerobic capacity, however testing in
individuals with neuromuscular disease is often limited due to pain, activity intolerance,
musculoskeletal impairments, fatigue and other such related variables. Often, submaximal
exercise testing can overcome some of these obstacles, and as such, is used frequently in the
clinical environment. Non-ambulatory exercise testing utilizing an arm ergometer specifically
has not been studied as heavily, especially in those with progressive myopathies. For this
study, we will use maximal aerobic capacity testing for individuals with Cystinosis Myopathy
utilizing a bike ergometer to allow testing of individuals regardless of their ambulatory
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