# Neuropsychiatric and Neurodevelopmental Disorders: Harnessing Rare Variants

> **NIH NIH R13** · KEYSTONE SYMPOSIA · 2020 · $10,000

## Abstract

ABSTRACT
Support is requested for a Keystone Symposia conference entitled Neuropsychiatric and Neurodevelopmental
Disorders: Harnessing Rare Variants for Diagnosis and Treatment organized by Drs. Jennifer G. Mulle, Audrey
Thurm, Christa L. Martin and Carrie E. Bearden. The conference will be held in Boulder, Colorado from January
24-27, 2021.
This is an unprecedented time in psychiatric genetics. There are now hundreds of rare genetic variants that are
strongly associated with neuropsychiatric traits and psychiatric diseases. Many individual teams are making
progress studying a given gene or genomic interval, and the time is right for knowledge transfer across teams.
This conference is driven by three emerging concepts. First, the discovery of rare variants with large effects for
neuropsychiatric disorders provides a new avenue for understanding the underlying mechanisms of more
common disorders. Second, these rare variants are often associated with multiple neurodevelopmental or
neuropsychiatric disorders, suggesting that there are common underlying biological pathways that confer
susceptibility to disease; this finding simultaneously suggests that genetic and epigenetic modifiers play a key
role in determining the phenotype of specific individuals. Third, large scale collaborative efforts and harmonized
frameworks for data collection are starting to enable more fine-grained, quantitative and even longitudinal
phenotyping of probands and relatives, allowing us to move beyond the relatively gross characterization of
categorical Diagnostic and Statistical Manual of Mental Disorders (DSM) diagnoses. These new findings
underscore the need for interaction between geneticists, neurobiologists and clinical scientists, and this meeting
sets the stage for such cross-cutting collaborations.

## Key facts

- **NIH application ID:** 10071052
- **Project number:** 1R13HD103470-01
- **Recipient organization:** KEYSTONE SYMPOSIA
- **Principal Investigator:** Thale Cross Jarvis
- **Activity code:** R13 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $10,000
- **Award type:** 1
- **Project period:** 2020-08-04 → 2022-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10071052

## Citation

> US National Institutes of Health, RePORTER application 10071052, Neuropsychiatric and Neurodevelopmental Disorders: Harnessing Rare Variants (1R13HD103470-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10071052. Licensed CC0.

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