
Dr Ahmad Al Khleifat
Research Interests
Most significant discovery
I discovered that structural variation is common in ALS/MND. I showed that longer telomeres are associated with ALS. I helped identified the optimal clinical stage for Riluzole treatment, aiding patient counselling and drug development. My group was the first to characterize the sex-specific methylation profile in ALS/MND and demonstrate that methylation is associated with disease progression in ALS/MND. I helped develop several programmes including, GeneVar, DNAscan, ALSgeneScanner, SnpReportR, ExpanssionHunter and VariantSurvival for the analysis and interpretation of next generation sequence data. Our work, involving 2500 samples, pinpointed elevated plasma Neurofilament Light (NFL) levels in MND; significantly improving NFL’s reliability as a biomarker in global MND trials.
Educational Interests
• Big data approaches and AI
• Lecturing on ALS, FTD, AD in MSc degrees
• PhD and MSc project supervision
•Hackathons
Top 4 Publications
Stage at which Riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis : a retrospective analysis of data from a doseranging study. Lancet Neurology
A multicentre validation study of the diagnostic value of plasma neurofilament light. Nature Communications
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. Genomic Medicine.
VariantSurvival : A tool to identify genotype-treatment response. Frontiers in Bioinformatics
Methods / Expertise
• Big data and AI
• Biomarkers
• Genomics
• Methylation
• Proteomics
