A major obstacle in studying rare genetic disorders is their individual rarity and often wide range of phenotypes. Even with the rise of genomic sequencing, the number of variants of unknown significance (VUS) showcases the gap in our knowledge, diagnostic power, and ability to interpret DNA changes. With approximately one out of every 150 babies born having a chromosomal disorder, being able to identify and explain the cause of phenotypic heterogeneity in these disorders is important in predicting the scope of comorbidities and overall severity of disease. Thus, this information will aid in providing patient-specific treatment in addition to specific genetic counseling. We are interested in creating a computational model that incorporates both genetic variation and changes in DNA methylation into a combined measure of gene burden. This novel model will provide a more holistic approach to identifying genetic modifiers in chromosomal disorders, as well as other disease.

Publications:

Pinnaro CT, Beck CB, Major HJ, Darbro BW. CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome. Hum Genet. 2023 Apr;142(4):523-530. PMCID: PMC10060348.

Honors/Awards:

Advanced Gene Mapping Course Travel Grant, Rockefeller University  (2022)