Emily G. Farrow, PhD, CGC
Director, Laboratory Operations, Genomic Medicine Center; Associate Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Clinical Assistant Professor of Pathology, University of Kansas School of Medicine
Full Biography
Emily Farrow, PhD, Genomic Medicine Center, was recently awarded a two-year, $199,362 grant from the Angelman Syndrome Foundation.
Dr. Farrow will use the funding on her project “Development and Implementation of a Novel Comprehensive Panel for the Early Detection of Angelman syndrome.”
As you may have read when Children’s Mercy announced the opening of the Angelman Syndrome (AS) Clinic earlier this year, AS is a neurodevelopmental disorder currently affecting over 500,000 patients worldwide. Characteristics of those with AS include developmental delay, intellectual disability, speech impairment, gait ataxia and a happy demeanor. However, these features are often not apparent until after one year of age. Further the common initial symptoms of developmental and speech delay are not specific and associated with multiple neurodevelopmental disorders.
“The underlying molecular mechanism of AS is complex; caused by multiple genetic mechanisms including methylation defects, copy number variants and pathogenic single nucleotide variants in UBE3A, currently requiring multiple clinical tests to evaluate,” explains Dr. Farrow. “Taken together, despite the prevalence of AS, many patients do not receive a timely molecular diagnosis, may receive an incorrect diagnosis, or receive no diagnosis at all.”
As precision therapeutics are increasingly developed, including ASOs which hold tremendous promise, receiving a molecular diagnosis becomes critically important.
Dr. Farrow’s project will address the current limitations of diagnostic testing for AS by utilizing a novel long read (LR) based sequencing approach, capturing multiple disease categories and variant types in a single high throughput economical test.
The studies connected to this project build upon the Genomic Medicine Center’s unique experiences in high volume clinical molecular testing for rare disease using next-generation sequencing (NGS) and clinical test development. They will also utilize the large-scale health system-wide research program of the rare disease data repository “Genomic Answers for Kids” (GA4K), which extends molecular testing to include the world’s largest pediatric LR sequence repository by PacBio HiFi GS (HiFi-GS).
“The central hypothesis of the proposed studies is that the implementation of a single comprehensive panel will result in increased access to testing, earlier diagnoses and improved outcomes in patients,” said Dr. Farrow. “We will accomplish this goal through 1) developing a novel, scalable targeted genomic test to detect single nucleotide variants (SNV) with phasing, copy number variation (CNV), structural variation (SV), and methylation detection, and 2) testing the implementation and resulting outcomes by deploying the novel test in a rare disease cohort.”
As Dr. Farrow explains, the successful execution of the proposed studies has the potential to transform genetic testing in AS.
Tomi Pastinen, MD, PhD, and Scott Younger, PhD, both of the Genomic Medicine Center, will serve as co-investigators.