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Department of Pediatrics
La Spada Laboratory
LaSpada Laboratory
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 About the La Spada Laboratory 


NEUROGENOMICS = Using the tools of genetics and genomics to determine the molecular basis of neural function and neurological disease.
  1. Altered gene transcription in neurological disease and retinal degeneration:  Unraveling the complexity of CNS gene regulation, including microRNAs, non-coding RNAs, and epigenetics.
  2. Failure of protein quality control underlies all major neurological disease:  Identification of genetic pathways that regulate autophagy and role of mTOR signaling in neuroprotection.
  3. Bioenergetics of neurons:  Understanding mitochondria dysfunction in neurological disease, including mitophagy and mitochondrial dynamics.
  4. Cross-talk between the basic biology of aging and neurological disease pathways. In my laboratory, we apply the tools of molecular genetics, neuroscience, and functional genomics to understand the basis of neural function and to identify mechanisms of neurodegenerative disease.
My research team is interested in diseases caused by expansions of trinucleotide repeats, including Huntington’s disease (HD), spinobulbar muscular atrophy (SBMA), and spinocerebellar ataxia type 7 (SCA7).  By using advanced tools of gene manipulation in cell culture and in mice, we have learned that neurodegenerative disorders result from abnormalities in transcription.  We are studying the role of small RNAs in normal neural function, and identifying epigenetic changes associated with aging and neurodegeneration.  We are interested in regulation of protein quality control, as it is now clear that neurons are exquisitely susceptible to misfolded protein stress.  This has led us to study “autophagy”, and quality control of mitochondria.   Our goal is to define pathways by which neurons become dysfunctional and use this knowledge to devise therapies.