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 foucs on the association between the abnormal metabolism and disaese 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 identificaition 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 reserach has primarly foucsed on two rare diseases: pyridoxine-dependent epilepsy (PDE-ALDH7A1) and glutaric aciduria type 1 (GA1). To study PDE-ALDH7A1 we utize both e.coli-based expression system to evalute the impact of genetic variants and 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 the support from various patient organizations and familys over the last 10+ years. In fact our initial PDE-ALDH7A1 newborn screening study was funded through a 5k in 2014. In addition to the financial support, we are grateful that familys share their storied with us are we consider each one an extended member of our team.
- 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
Clincical outcomes help us prioritze reserch goals and provide critical control data in clincial trials
Record of Collaboration
Collaboration with clinican-scientists advance research goals and speed translation of results to the bedside
Enagement Stratagies
Partnerships with families help enusre our reserach goals are patient-centered and clinically meaningful
Model Systems for Rare Disease
Animal (zebrafish, mice) and human model systems to interrogate mechansim and novel treatments
Omics Expertise
Exerpience in genonmics, metabolomics, and proteomics with a focus on disease mechanism
Spectroscopy Laboratory
Analytical instrumententaion with a focus on quantiative 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