# ASXL-Related Disorders Scientific Conference and Family Meeting

> **NIH NIH R13** · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2021 · $15,000

## Abstract

Project Summary
The ASXL-Related Disorders are ultra-rare neurodevelopmental and congenital malformation syndromes
caused by variants in one of the ASXL genes (Bohring-Opitz Syndrome: ASXL1, Shashi-Pena Syndrome:
ASXL2, Bainbridge-Ropers Syndrome: ASXL3). The ASXL genes regulate transcription of the Hox genes and
are considered “readers” of the epigenetic code by playing a role in histone modification and chromatin
regulation. The clinical variability of these syndromes ranges from autism and overgrowth to profound
intellectual disabilities and growth failure. In the majority of these individuals, multiple organ systems are
affected, including the neurologic system (non-verbal, hypotonia, seizures, dysautonomia), psychiatric
functioning (behavioral disorders, anxiety, ADHD, OCD, autism spectrum), vision (retinal anomalies, optic
nerve dysplasia, high myopia), and gastrointestinal (chronic vomiting, feeding intolerance, gallstones), thereby
requiring a high level of care.
This NIH R13 grant is for the ASXL-Related Disorders Scientific Conference and Family Meeting which will
be a 3-day international symposium at the UCLA Luskin Conference Center in Los Angeles, CA from July 29-
31, 2021. If canceled due to the COVID-19 pandemic, it will be held in July 2022. The event will include clinical
and scientific presentations from experts on these disorders. It will also involve a trainee poster session,
research clinic, and family events. The goals of the meeting are: 1) To further knowledge about the natural
history and clinical management of the ASXL-Related Disorders; 2) To expand the research network and share
data from the international scientific community on the ASXL disorders; 3) To increase cross-talk and
collaboration between scientists, clinicians, and families in an effort to build on our basic understanding about
the pathogenicity of the ASXL genes; 4) To further clinical translational efforts for the ASXL conditions by
collecting biologic samples and natural history data; 5) To foster a family network that provides a safety net for
families and allows for the improved holistic care for all ASXL families.
This symposium focuses on genetic conditions that have a significant impact on the health and well-being of
the entire family unit. While these conditions are congenital, primarily impacting children, a growing number of
individuals are surviving into adulthood. Supporting the health and development of children throughout their
lifespan while recognizing the role of the entire family’s health, is a critical mission of the Eunice Kennedy
Shriver National Institute of Child Health and Human Development (NICHD).

## Key facts

- **NIH application ID:** 10318900
- **Project number:** 1R13HD106702-01
- **Recipient organization:** UNIVERSITY OF CALIFORNIA LOS ANGELES
- **Principal Investigator:** Bianca Russell
- **Activity code:** R13 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $15,000
- **Award type:** 1
- **Project period:** 2021-07-27 → 2022-09-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10318900

## Citation

> US National Institutes of Health, RePORTER application 10318900, ASXL-Related Disorders Scientific Conference and Family Meeting (1R13HD106702-01). Retrieved via AI Analytics 2026-06-12 from https://api.ai-analytics.org/grant/nih/10318900. Licensed CC0.

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