Pyridoxine-Dependent Epilepsy
Ensuring every patient is diagnosed and treated at birth. Focused on improving clinical outcomes today and treatment advances for tomorrow.
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1 min read
Research Focus Areas
As a translational research lab, we aim to make real world impact by moving through the various stages of research including basic science, preclincial studies, and clinical application.
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Enrolling
Rare Disease Studies
Natural history studies enhance our understanding of disease, set research priorities, and provide historical data for clincial trials
Clinical outcomes
Study design
5
team
70+
papers
NIH/Philanthropy
funding
🧬
Active
Disease Mechanisms
Patient samples and model systems help us study the underlying disease cause. Biochemical studies identify biomakers for diagnosis & treatment
Metabolomics
Genomics
Proteomics
5
team
70+
papers
NIH/Philanthropy
funding
💊
Active
Therapeutic Advances
Preclinical models are used to study genetic based treatments. We partner with scientists and pharma companies also focused on rare diseases
Preclinical studies
Genetic therapies
5
team
70+
papers
NIH/Philanthropy
funding
Meet Our Team
A dedicated group of scientists focused on rare disease
Researchers
Curtis Coughlin II
Associate Professor
Translational researcher focused on rare diseases and bioethics
Inborn errors of metabolism
Clinical outcomes
Ethics and genetics
Kristie Pauly
Researcher, Lab Manager
Dinosaurs eat man. Woman inherits the earth. - Dr. Ellie Sattler
Zebrafish
Mass spectrometry
Patient engagement
Micheal Woontner
Associate Professor (semi-retired)
Exploring lysine metabolism and many things yeast related (except beer)
Inborn errors of metabolism
Glutaric Aciduria type 1
Molecular biology
Graduate Students
Active Research Projects
Glutaric Aciduria Type 1
We focus on understanding the natural history and the impact of metabolism on clinical outcomes. We aim to ensure advances in treatment are patient-centered.
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1 min read
Metabolic Epilepsies
Understanding mechanism of individual metabolic epilepsy disorders and shared clinical outcome measures that can faciliate clinical trial designs.
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1 min read
Recent Publications
(2025).
Drug Delivery Through Placenta and Then Breastmilk for Fetal Cystic Fibrosis: Collateral Benefit and Social Good Do Not Make an Acceptable Risk: Benefit Ratio.
Am J Bioeth. Oct:25(10):102-104.
(2025).
Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.
J Inherit Metab Dis. Jan;48(1):e12783.
(2025).
Feasibility of newborn screening for pyridoxine-dependent epilepsy.
Mol Genet Metab.
(2025).
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.
Brain Commun. Oct 14;7(6):fcaf397.
Lab News & Updates
Coughlin Lab Newsletter
Keep up to date with the Coughlin Lab. Contact us for the monthly email and follow us on Facebook
Kristie Pauly
Winter Holiday Party 2025
Science is fun. Science is curiosity. We all have natural curiosity...
Events
Stay connected with our research community through talks, workshops, and collaborative events
![It’s All About the Vitamins [B]aby! featured image](/events/acmg_2025/featured_hu_9e4e42b873bb08f4.webp)
It’s All About the Vitamins [B]aby!
This ACMG webinar focuss on treatabel metabolic disorders
When everyday counts: Neonatal treatment for pyridoxine-dependent epilepsy.
Dr. Coughlin discusses current treatment of PDE-ALDH7A1
Collaborators & Partners
Leading the way together
We work with family advocacy groups, interntional consoritums, top universities, research institutes, and industry leaders to advance scientific discovery
Contact Us
Mailing Address
University of Colorado Anschutz
12800 E. 17th Ave
RC1 North, P18-3401A
Mail stop 8313
Aurora, CO 80045