# The Discovery of Novel Genes in Inherited  Sudden Arrhythmic Death Syndromes

> **NIH NIH K23** · BAYLOR COLLEGE OF MEDICINE · 2020 · $179,425

## Abstract

PROJECT SUMMARY / ABSTRACT
Dr. Christina Miyake is a pediatric electrophysiologist with clinical expertise in heritable arrhythmia disorders, a
Master’s degree in biophysics and molecular physiology, and training in basic science. She practices at Texas
Children’s Hospital, the largest pediatric hospital in the U.S., and Baylor College of Medicine a leader in human
genome research. She also collaborates with the Harris County Medical Examiner’s Office which oversees the
3rd largest county in the U.S. Her long-term goal is to be an independent translational researcher, focusing on
the genetic etiologies of pediatric sudden arrhythmic death syndromes (SADS). Pediatric inherited SADS are
caused by genetic alterations that result in life threatening arrhythmias and sudden cardiac death in otherwise
healthy children, producing devastating consequences with significant societal impact. In 30-70% of SADS
cases, the genetic alteration is unknown, suggesting that many genes are yet to be discovered. The search for
new genes causing SADS has been limited by the rare and sporadic nature of these cases and the limited
access of physicians and families to advanced sequencing techniques such as whole exome or genome
sequencing. Dr. Miyake seeks to utilize her background and expertise to identify the genetic determinants
responsible for SADS and ultimately to improve patient outcomes. Her short-term career development goals in
this proposal are: to acquire the requisite skill set to independently analyze and interpret genetic sequencing
data for novel gene discovery, to strengthen her biostatistical background, and to position herself for an
independent research career in gene discovery and gene-based outcome studies. This study is highly
innovative because novel gene-identification will be performed by an experienced clinician directly involved in
care of the affected patient (i.e. Dr. Miyake). In this proposal, Dr. Miyake aims to: 1) create and establish a
comprehensive database and biobank of pediatric SADS cases, 2) utilize advanced genomic sequencing
techniques to identify novel genes associated with SADS and 3) combine database and WES findings to define
genotype-phenotype associations in pediatric SADS. The database will be constructed from patients and
families at Texas Children’s Hospital and from sudden death cases at the Medical Examiner’s office. This
mentored grant includes coursework and hands-on lab training to develop a mastery of techniques from
accomplished experts in novel gene discovery (Dr. Dianna Milewicz), human genome sequencing (Dr. James
Lupski), statistical genetics (Dr. Suzanne Leal), clinical cardiology (Dr. Daniel Penny), and bioinformatics (Dr.
Xiaoming Liu). Ultimately, the SADS database and biobank for this project will provide the infrastructure for
future research into comprehensive SADS gene discovery. Long-term, these discoveries will help in patient
management, the prevention of sudden death, and a better understanding of c...

## Key facts

- **NIH application ID:** 9978099
- **Project number:** 5K23HL136932-03
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** Christina Yumi Miyake
- **Activity code:** K23 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $179,425
- **Award type:** 5
- **Project period:** 2018-07-01 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9978099

## Citation

> US National Institutes of Health, RePORTER application 9978099, The Discovery of Novel Genes in Inherited  Sudden Arrhythmic Death Syndromes (5K23HL136932-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9978099. Licensed CC0.

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