Paulina Gonzalez Tovar
Research Assistant, Boston Children's Hospital
2 active projects
Duplicate of Genomics Undergrad Lesson Plan Exemplar (v6)
Scientific Questions Being Studied
Based on our success in with Genetic Analysis in Medicine, Ashley Green with the All of Us Research Program has tasked us with creating user support content to help other users mentor students and trainees on projects in the Restricted and Controlled Tiers. Our plan is to produce documents outlining a recommended path to onboarding with resources for mentors as well as sample workspaces for each type of Tier project using the R coding language for All of Us to use in the workbench as they see fit.
Project Purpose(s)
- Educational
Scientific Approaches
We plan on incorporating CURE best practices into these resources and designing them to be used in both independent and course-based research environments.
Anticipated Findings
This project will have a far-reaching impact by making it easier for student researchers across the United States to design and implement research projects using the All of Us data resource.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled Tier
ADHD genomics study
Scientific Questions Being Studied
Despite the high heritability of attention-deficit/hyperactivity disorder (ADHD), the genetic etiology remains largely unclear. Most previous studies have explored the genetic etiology of ADHD using polygenic risk from SNP array data or as a comorbidity of autism spectrum disorder (ASD). We aim to determine the rare variant genomic architecture contributing to ADHD without comorbid autism, intellectual disability, or known genetic syndromes. This characterization of ADHD could improve a precision medicine care approach by providing earlier diagnosis, treatments tailored to individual and family risk or protective factors, and an individualized prognosis.
Project Purpose(s)
- Disease Focused Research (attention deficit hyperactivity disorder)
- Control Set
- Ancestry
Scientific Approaches
We aim to understand the genetic etiology of individuals with primary ADHD (with no comorbidity of ASD, intellectual disability, and genetic disorders) by performing variant and gene burden analyses in the All of Us cohort. Variants would undergo in silico functional classification through established pipelines, and certain variants, such as Variants of Unknown Significance (VUS), may require further functional validation. Mutational burdens will be compared between cases and health neurotypical controls from the All of Us cohort.
Anticipated Findings
Based on our pilot study of ADHD from another ADHD cohort, we expect to find a genetic explanation for 20% of ADHD cases; we anticipate the identification of variants (VUS) in another 35% of individuals that would require further validation through functional modeling. We also expect that we will not find a genetic explanation in approximately 50% of individuals. Our findings would improve diagnosis, treatment, and ADHD in the future.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled TierRequest a Review of this Research Project
You can request that the All of Us Resource Access Board (RAB) review a research purpose description if you have concerns that this research project may stigmatize All of Us participants or violate the Data User Code of Conduct in some other way. To request a review, you must fill in a form, which you can access by selecting ‘request a review’ below.
