FLG: Could you give us an introduction of yourself and the work you do?
I’m Sandra Smieszek and I’m the Head of Genetics at Vanda Pharmaceuticals Inc. My research focuses on genetic architecture of numerous human disorders, with a strong emphasis on neuro-genetics of Autism Spectrum Disorder, sleep and circadian clock genetics. I have a particular interest in developing and applying computational genetic methods of analysis to complex clinical and genomic data using whole genome sequencing data.
I’m working on integrating clinical deep phenotyping with whole genome sequencing to delineate the determinants of complex rare and common disorders as well and responder status placing genetics at the epicenter with sequencing at the time of the trial. To this end, we are currently working on numerous cutting-edge genome sequencing projects to decode the pathophysiology and biomarkers for better diagnostics and therapeutics
FLG: What motivated you to pursue a career in this field?
I always had passion for biology, and biomedical sciences were inherent in the family. My Grandmother was a chemist working on the first mass spectrometry.
FLG: What do you think the best clinical trial needs in order to discover new therapeutics?
Clinical trials collecting ultra-deep phenotyping together with whole genome sequencing, with ability to contact participants! Clinical trial data add the ‘response’ component to the classic academic GWAS analyses, generating valuable datasets for testing novel hypotheses.
FLG: Do you see any future potential developments that may affect the success of finding better diagnostics and treatments for diseases with a genetic component?
Absolutely. We are entering a day and age of single cell high resolution datasets, carefully monitored over time that can be combined with insights at several layers. We are starting to appreciate the non-coding DNA and the treasures within, microRNA etc, and are carefully mapping responses with PK and clinical data. Incorporating the ‘E’ environment and ‘T’ time components holds great promise.
FLG: How can research cover the needs of patients through treatments that do not offer economic profit in the pharmaceutical industry?
Valuable research will always improve patients’ lives, collaborations between patient’s groups industry, and academia is already trying to cover these gaps.
FLG: What do you think is the most exciting thing happening in the genomics field worldwide right now?
Incorporating viral and microbiome information, time resolution, capacity to modify the genome with greater precision, and incorporation of ML to high resolution data, all of it is exciting!
FLG: Do you see any major breakthroughs happening in genomics over the next few years?
Yes, perhaps it’s time for CNS breakthroughs.
