A5024771666- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- RNA Research and Splicing
- RNA Interference and Gene Delivery
- Advanced biosensing and bioanalysis techniques
- Epigenetics and DNA Methylation
- Prion Diseases and Protein Misfolding
- Virus-based gene therapy research
University of Massachusetts Chan Medical School
2015-2023
UMass Memorial Medical Center
2022
UMass Memorial Health Care
2016
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease; survival in ALS typically 3–5 years. No treatment extends patient by more than three months. Approximately 20% of familial and 1–3% sporadic patients carry mutation the gene encoding superoxide dismutase 1 (SOD1). In transgenic mouse model expressing mutant SOD1G93A protein, silencing SOD1 prolongs survival. One study reports therapeutic effect systemically treated adult mice; this was achieved with short hairpin RNA,...
Objective Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by loss of motor neurons, resulting in progressive muscle weakness, paralysis, and death within 5 years diagnosis. About 10% cases are inherited, which 20% due to mutations the superoxide dismutase 1 ( SOD1 ) gene. Riluzole, only US Food Drug Administration–approved ALS drug, prolongs survival few months. Experiments transgenic mouse models have shown decreasing levels mutant protein as potential...
Amyotrophic Lateral Sclerosis (ALS) is a fatal and progressive neurodegenerative disorder with identified genetic causes representing significant minority of all cases. A GGGGCC hexanucleotide repeat expansion (HRE) mutation within the C9ORF72 gene has recently been as most frequent known cause ALS. The leads to partial heterochromatinization locus, yet mutant RNAs dipeptide proteins (DPRs) are still produced in sufficient quantities confer neurotoxicity. levels these toxic HRE products...
Amyotrophic Lateral Sclerosis (ALS) is a fatal adult-onset neurodegenerative disease that affects upper and lower motor neurons causing progressive muscle weakening. Respiratory failure ultimately the cause of death approximately 2-5 years after symptom onset. The recent discovery an expanded hexanucleotide repeat located in chromosome 9 open reading frame 72(C9ORF72) now accounts for majority familial ALS cases as well frontotemporal dementia (FTD) cases. Analysis patient brain samples have...
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects motor neurons, causing progressive muscle weakness and respiratory failure. The presence of an expanded hexanucleotide repeat in chromosome 9 open reading frame 72 ( C9ORF72 ) accounts for most cases familial ALS frontotemporal dementia (FTD). To determine if suppressing expression gene products can reduce toxicity, we designed set artificial microRNAs (amiRNA) targeting the human gene. Here report...