American Board of Medical Genetics and Genomics (Clinical Genetics)
American Board of Pediatrics (General)
Professional History
Dr. Horlbeck is a Clinical Geneticist and Researcher at Boston Children’s Hospital who specializes in genetic disorders of chromatin machinery in the clinic and his laboratory. This is a large group of genetic conditions that includes Kabuki, Kleefstra, Wiedemann-Steiner, Arboleda-Tham, and O'Donnell-Luria-Rodan syndromes.
He is originally from Westfield, New Jersey and obtained an MD and PhD from the University of California, San Francisco. During his PhD research, he developed tools based on CRISPR technology that enable researchers to systematically turn genes on and off in order to discover new gene functions. In postdoctoral work at Harvard and the Broad Institute, he developed a new method for understanding how genes are regulated in development. He now aims to bring these tools together with the goal of better understanding and treating disorders of chromatin biology.
Publications
Multiscale footprints reveal the organization of cis-regulatory elements. View Abstract
Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome. View Abstract
FET fusion oncoproteins disrupt physiologic DNA repair networks in cancer. View Abstract
CRISPRi screens identify the lncRNA, LOUP, as a multifunctional locus regulating macrophage differentiation and inflammatory signaling. View Abstract
FET fusion oncoproteins disrupt physiologic DNA repair networks and induce ATR synthetic lethality in cancer. View Abstract
Single-cell multi-scale footprinting reveals the modular organization of DNA regulatory elements. View Abstract
GATOR2-dependent mTORC1 activity is a therapeutic vulnerability in FOXO1 fusion-positive rhabdomyosarcoma. View Abstract
Dual genome-wide coding and lncRNA screens in neural induction of induced pluripotent stem cells. View Abstract
Genome-wide CRISPRi screening identifies OCIAD1 as a prohibitin client and regulatory determinant of mitochondrial Complex III assembly in human cells. View Abstract
High-content imaging-based pooled CRISPR screens in mammalian cells. View Abstract
Genome-Scale Perturbation of Long Noncoding RNA Expression Using CRISPR Interference. View Abstract
Pharmaceutical-Grade Rigosertib Is a Microtubule-Destabilizing Agent. View Abstract
CRISPRi-based radiation modifier screen identifies long non-coding RNA therapeutic targets in glioma. View Abstract
Fitness effects of CRISPR/Cas9-targeting of long noncoding RNA genes. View Abstract
Titrating gene expression using libraries of systematically attenuated CRISPR guide RNAs. View Abstract
New factors for protein transport identified by a genome-wide CRISPRi screen in mammalian cells. View Abstract
ER cargo properties specify a requirement for COPII coat rigidity mediated by Sec13p. View Abstract
[Initial results following implantation of silastic wrist joint prostheses in patients with chronic polyarthritis with additional use of titanium grommets]. View Abstract