(@rhagemann)

AoU Research Priorities Use Cases

What regulatory improvements could be made to the FDA to speed the development and approval of new genetic therapies?

By examining existing FDA/CBER guidance documents and case studies in new gene therapy approvals (like Kymriah), it may be possible to gain a better understanding of what processes and procedures the FDA/CBER could improve, eliminate, or change in order to facilitate quicker pathways for regulatory approval of new drugs, biologics, and therapies. The FDA has a lot of flexibility in its authority to set such approval standards,... more »

Voting

7 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What is the genetic architecture of neurodevelopmental problems and how does it relate to health disparities?

From a diverse sample of children in both clinical and non-clinical settings, investigate genetic contributions to a wide range of neurodevelopmental problems (NPs). Individual-variant and polygenic approaches can advance our understanding of the genetic overlap between, and specificity in, different types of NPs. In a large and diverse sample that includes different racial/ethnic and socioeconomic groups, these techniques... more »

Voting

33 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What genetic markers predict consequences of pregnancy associated hypertension & gestational diabetes for mothers & offspring?

This study will focus on women who are pregnant at enrollment or become pregnant during the study and the offspring of observed pregnancies. The information will help to define genetic and epigenetic predictors of long-term effects of common pregnancy complications.

Voting

26 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What genetic markers predict consequences of pregnancy associated hypertension & gestational diabetes for mothers & offspring?

This study will focus on women who are pregnant at enrollment or become pregnant during the study and the offspring of observed pregnancies. The information will help to define genetic and epigenetic predictors of long-term effects of common pregnancy complications.

Voting

26 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What factors are involved in loss of fecundity in males and females?

This study will focus on the entire cohort across the reproductive lifespan (ages 12-55) collecting data on fertility (time to conception) and pregnancy loss. Additional data will include factors believed to be indicators of fertility as determined by questionnaire, blood tests, factors believed to negatively impact fertility, and genetic/epigenetic data that together may provide new targets for understanding oocyte depletion,... more »

Voting

29 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What factors are involved in loss of fecundity in males and females?

This study will focus on the entire cohort across the reproductive lifespan (ages 12-55) collecting data on fertility (time to conception) and pregnancy loss. Additional data will include factors believed to be indicators of fertility as determined by questionnaire, blood tests, factors believed to negatively impact fertility, and genetic/epigenetic data that together may provide new targets for understanding oocyte depletion,... more »

Voting

29 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

How do genetic factors of ADHD influence treatment strategies? Can they affect success of treatment or the choice of therapy?

Screen school-age children for ADHD by testing, if feasible, or by electronic health record search. Perform WGS on children as the preferred strategy to identify new genetic associations and confirm previously reported genetic associations. If WGS is not possible, develop a marker panel and test children who have ADHD for known or suspected genetic factors. Follow children by periodic medical evaluations and school performance... more »

Voting

94 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What are the unique factors associated with early onset obesity in different ethnic and racial groups?

This study will focus on women who are pregnant when they enroll, or become pregnant during the study, in order to follow their infants from birth to 8 years of age to determine trajectories of growth over time and identify genomic and epigenomic factors related to development of obesity. Critical to obtaining this information will be the review of Electronic Health Records of providers who have the correct measuring... more »

Voting

155 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What are the unique factors associated with early onset obesity in different ethnic and racial groups?

This study will focus on women who are pregnant when they enroll, or become pregnant during the study, in order to follow their infants from birth to 8 years of age to determine trajectories of growth over time and identify genomic and epigenomic factors related to development of obesity. Critical to obtaining this information will be the review of Electronic Health Records of providers who have the correct measuring... more »

Voting

155 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What risk factors predispose children to sepsis, and what interventions are most effective for prevention and treatment?

This study will focus on the entire cohort of children (infants-18 y/o) and will identify those risk factors which predispose children to sepsis. The information will be used to create more precise strategies to identify individuals at highest risk of sepsis and to implement preventive or early treatment therapies that would improve outcomes. The study will also assess the use of adjunctive immunomodulatory therapies... more »

Voting

35 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What risk factors predispose children to sepsis, and what interventions are most effective for prevention and treatment?

This study will focus on the entire cohort of children (infants-18 y/o) and will identify those risk factors which predispose children to sepsis. The information will be used to create more precise strategies to identify individuals at highest risk of sepsis and to implement preventive or early treatment therapies that would improve outcomes. The study will also assess the use of adjunctive immunomodulatory therapies... more »

Voting

35 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What characteristics distinguish a healthy maternal pregnancy-microbiome from one that experienced microbial perturbations?

This study will focus on a subsample of all pregnant women and follow them throughout pregnancy to obtain serial assessments and measurements, including laboratory microbiologic evaluation testing of oral, skin and vaginal specimens. Follow-up would end at delivery of the infant; serial pregnancies would be eligible to re-enroll. Assessments and measures would be used along with health outcomes to determine associations... more »

Voting

43 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What characteristics distinguish a healthy maternal pregnancy-microbiome from one that experienced microbial perturbations?

This study will focus on a subsample of all pregnant women and follow them throughout pregnancy to obtain serial assessments and measurements, including laboratory microbiologic evaluation testing of oral, skin and vaginal specimens. Follow-up would end at delivery of the infant; serial pregnancies would be eligible to re-enroll. Assessments and measures would be used along with health outcomes to determine associations... more »

Voting

43 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What genetic and environmental risk factors contribute to the development of pelvic organ prolapse (POP) as females age?

This study will focus on the entire cohort (menarche through lifespan) to collect data on general health and wellbeing as well as detailed pregnancy & delivery histories. Activity level will be monitored, specifying any straining associated with either physical activity or occupation. Genetic/epigenetic factors, such as family history of POP or connective tissue disorders will be obtained, as will data on other currently... more »

Voting

25 votes
Ideate
(@nichd.allofus)

AoU Research Priorities Use Cases

What are the genetic and environmental risk factors that contribute to the broader autism phenotype in adolescents and adults?

To study genotype-phenotype correlations, utilize measures targeting the Broader Autism Phenotype: social and communication scales (SRS), Connors Rating Scale for ADHD, ratings of depressive symptoms (PHQ-9), anxiety disorders, & adverse childhood experiences (ACEs) & traumatic life events. Children transitioning to adulthood during the study will have repeat assessment of function and mental health status at a later... more »

Voting

42 votes
Ideate