A5036398767- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Prion Diseases and Protein Misfolding
- Alzheimer's disease research and treatments
- BRCA gene mutations in cancer
- Neurological diseases and metabolism
- Botulinum Toxin and Related Neurological Disorders
- Connective tissue disorders research
- Hereditary Neurological Disorders
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
University of Pennsylvania
2018-2024
University of Pennsylvania Health System
2024
Children's Hospital of Philadelphia
2022
Drexel University
2018
Mutations of the SPAST gene, which encodes microtubule-severing protein spastin, are most common cause hereditary spastic paraplegia (HSP). Haploinsufficiency is prevalent opinion as to mechanism disease, but gain-of-function toxicity mutant proteins another possibility. Here, we report a new transgenic mouse (termed SPASTC448Y mouse) that not haploinsufficient expresses human spastin bearing HSP pathogenic C448Y mutation. Expression was documented from fetus adult, gait defects reminiscent...
Amyotrophic lateral sclerosis (ALS) is a multi-system disease characterized primarily by progressive muscle weakness. Cognitive dysfunction commonly observed in patients; however, factors influencing risk for cognitive remain elusive. Using sparse canonical correlation analysis (sCCA), an unsupervised machine-learning technique, we that single nucleotide polymorphisms collectively associate with baseline performance large ALS patient cohort (N = 327) from the multicenter Clinical Research...
As broad genetic testing (multi-gene panels, exome sequencing, and genome sequencing) is increasingly common, a growing number of individuals have been identified with variants unknown significance (VUSs) in medically actionable genes, including those associated inherited connective tissue disorders (ICTDs). These ICTDs include vascular Ehlers Danlos syndrome (vEDS), Loeys Dietz (LDS) Marfan (MFS). Our ICTD clinic has evaluated more than 100 such the past 5 years. Medical geneticists...
In the precision medicine era, genetic diagnoses direct clinical management and lead to improved health outcomes. However, there is scant data on role of race or social determinants (SDH) in access medical genetics evaluation outcomes testing general adult population. This study examines whether race, ethnicity, measures SDH influence results
Abstract Amyotrophic lateral sclerosis (ALS) is a multi-system disease characterized primarily by progressive muscle weakness. Cognitive dysfunction commonly observed in patients, however factors influencing risk for cognitive remain elusive. Using sparse canonical correlation analysis (sCCA), an unsupervised machine-learning technique, we that single nucleotide polymorphisms collectively associate with baseline performance large ALS patient cohort (N=327) from the multicenter Clinical...
Amyotrophic lateral sclerosis (ALS) is the most common degenerative motor neuron disorder. Although cases of ALS are sporadic, 5–10% familial, with mutations associated over 40 genes. There variation symptoms within families carrying same mutation; disease may develop in one sibling and not another despite presence mutation both. cause this phenotypic unknown, it likely related to genetic modifiers expression. The identification causing genes has led development transgenic mouse models...
May 6, 2019April 9, 2019Free AccessMultimodal Characterization of Delayed Diagnosis in ALS (S13.009)Pilar M. Ferraro, Josephine I. Cooke, Laura Hennessy, Katerina Placek, Murray Grossman, Colin Quinn, Leo McCluskey, Lauren Elman, and Corey T. McMillanAuthors Info & AffiliationsApril 2019 issue92 (15_supplement)https://doi.org/10.1212/WNL.92.15_supplement.S13.009 Letters to the Editor