Miss Amy Houseman

Overview

Amy Houseman completed her PhD in March 2025 under the supervision of Prof. Jeremy Cheadle, Dr Hannah West, and Prof. Julian Sampson. Her PhD, titled "Using exome and genome sequencing data to identify novel genes predisposing to colorectal polyposis," used bioinformatics approaches including WES/WGS bioinformatic analyses to search for high-penetrance variants relating to colorectal polyposis. Her research interests centre on genomic applications for rare human genetic diseases.

Amy has since moved into two post-doctoral roles based within the Neuroscience and Mental Health Innovation Institute (Centre for Neuropsychiatric Genetics and Genomics, CNGG) at Cardiff University. She is Research and Public Engagement Officer for the Timothy Syndrome Alliance (TSA), where she bridges the patient community with cutting-edge global research into CACNA1C-Related Disorders (CRD), a multi-system condition that can include neurodevelopmental disorders, epilepsy, cardiac issues such as Long QT Syndrome Type 8, hypoglycaemia, and immune dysfunction. She is also Public Involvement Officer for ARFID-connect, supporting patient and public involvement in research into Avoidant/Restrictive Food Intake Disorder (ARFID). Amy is currently supervised by Dr. Jack Underwood and Dr. Samuel Chawner.

Prior to her PhD, Amy was a member of Dr Katja Eckl's human genetics group at Edge Hill University. It was here that she worked on the genetics of Autosomal Recessive Congenital Ichthyosis, analysing Sanger sequence data from patients to produce the undergraduate dissertation 'Variant detection of human Sanger AB1 trace files using a cost-free linux-based pipeline', which can be found here.

During her BSc Genetics (Honours), Amy completed a year-long placement as a bioinformatics research assistant with the Big Data Biology Lab at Fudan University, Shanghai, under the laboratory of Professor Luis Pedro Coelho. Amy's work at Fudan University involved characterising small proteins from large metagenomic datasets. She also worked on bridging the knowledge gap around how bacteria in the human gut may interact with the function of psychotropic drugs.