Sarah Furlong
A5079991194- Amyotrophic Lateral Sclerosis Research
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Parkinson's Disease Mechanisms and Treatments
- Cholinesterase and Neurodegenerative Diseases
- Alzheimer's disease research and treatments
- Autism Spectrum Disorder Research
- Genetic Associations and Epidemiology
- Genetics and Neurodevelopmental Disorders
Macquarie University
2020-2022
Illumina (United States)
2021
King's College London
2021
Neuroscience Institute
2021
The University of Queensland
2017
By employing chip-based capillary zone electrophoresis coupled to high-resolution mass spectrometry, we profiled the plasma metabolome of 134 patients diagnosed with sporadic amyotrophic lateral sclerosis (ALS) (81 males and 53 females) 118 individuals deemed healthy (49 69 females). The most significant markers (p < 0.01) were creatine, which was 49% elevated, creatinine methylhistidine, decreased by 20 24%, respectively, in ALS patients. ratio creatine versus increased 370 200% for male...
Abstract Background Gene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis ( ALS ). One challenge for clinical application of genetic testing is critical evaluation the significance reported variants. Methods We use whole exome sequencing WES ) to develop a clinically relevant approach identify subset patients harboring likely pathogenic mutations. In parallel, we assess if DNA methylation can be used screen pathogenicity novel variants since signature...
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability of around 50%. DNA methylation patterns can serve as biomarkers (past) exposures and progression, well providing potential mechanism that mediates genetic or environmental risk. Here, we present blood-based epigenome-wide association study (EWAS) meta-analysis in 10,462 samples (7,344 ALS patients 3,118 controls), representing the largest case-control for any to date. We...