7.41M
Square foot campus
4500
Students across 40 programs
$704M
Research funding
$8.5B
to the Colorado economy
Spectroscopy Equipment
Many of our research questions focus on the association between abnormal metabolism and disease phenotype. This requires accurate measurement of several biomakers through approaches such as liquid chromatography tandem mass spectrometry (LC-MS/MS). Our spectroscopy equipment is the heart and soul of our laboratory. This work has led to the identification and clinical validation of novel biomakers, and demonstration that treatment can improve the abnormal biochemistry in various model systems.
- Waters H-Class UPLC system
- Waters TQD Triple Quadrupole MS
- Waters Tunable UV (TUV) detector
- Waters Fluorescence (FLR) detector
Disease Model Systems
Our research has primarily focused on two rare diseases: pyridoxine-dependent epilepsy (PDE-ALDH7A1) and glutaric aciduria type 1 (GA1). To study PDE-ALDH7A1 we utize an e.coli-based expression system to evalute the impact of genetic variants and several animal models to answer complex questions about diease mechanism.
- Samples from study participants
- E.coli-based expression system for ALDH7A1
- Mouse model of PDE-ALDH7A1
- Zebrafish models of PDE-ALDH7A1 and GA1
Patient Engagement
Patient engagement is as important to our reserach as any laboratory equipment or model system. We are greatful for the support of various patient organizations and families. Our initial PDE-ALDH7A1 newborn screening study was funded through a “Fighting for PDE” in 2014. In addition to the financial support, we are grateful that families share their stories with us and help us design research goals.
- Patients and Families
- PDE Foundation
- CurePDE Foundation
- Organic Acidemia Association
Coughlin Research Laboratory Overview
We are a translational research laboratory. We combine rigorous scientic methods with patient engagement approaches.
Natural History Studies
Clinical outcomes help us prioritize research goals and provide critical control data in clincial trials
Record of Collaboration
Collaboration with clinician-scientists advance research goals and speed translation of results to the bedside
Engagement Stratagies
Partnerships with families help ensure our research goals are patient-centered and clinically meaningful
Model Systems for Rare Disease
Animal and human model systems are used to interrogate disease mechansim and novel treatments
Omics Expertise
Experience in genomics, metabolomics, and proteomics with a focus on disease mechanism
Spectroscopy Laboratory
Analytical instrumentation with a focus on quantitative mass spectrometry approaches
Contact Us
Mailing Address
University of Colorado Anschutz
12800 E. 17th Ave
RC1 North, P18-3401A
Mail stop 8313
Aurora, CO 80045