B6 responsive seizures
Our primary reseearch is focused on PDE-ALDH7A1 defciency which is only one of the vitamin B6 responsive seizure disorders. In addition to the known genetic B6 responsive disorders, a number of patients with idiopathic seizures respond to vitmain B6 supplementation. We are focused on both identification of novel genetic causes and understanding general mechanism of these disorders.
- 🧬 Genome study to identify novel biomakers [Enroll]
- 🧬 Tissue specific LC-MS/MS quantification of Bsub>6 vitamers
- 🧬 Disesase specific LC-MS/MS quantification of Bsub>6 vitamers
- 🧬 The role of vitamin B6 in idopathic seizure disorders
Nonketotic hyperglycinemia
We collaborate with Professor Johan Van Hove’s laboratory to study Nonketotic Hyperglycinemia (NKH). In this collaborative work, we charecterized mutations in the genes GLDC and AMT that cause classic NKH. We also described clinical findings of NKH and biomarkers (imaging, genetic, and biochemical based) that may aid prognosis. Future works is focused the impact of vitamin B6 in NKH.
- 🧬 Genetic basis of classic NKH [Link]
- 🧬 Neuodevelomental outcomes in NKH [Link]
- 🧬 Brain imagining and phenotype in NKH [Link]
- 🧬 Biocehmical and molecular predictors of prognosis [Link]
Rare metabolic epilepsies
We collaborate with clinicicans and scientits studying several rare, metabolic epilepsies. HCFC1 is a transcriptoinal regulator and mutations in HCFC1 can cause a severe neurologic phentoype, seizure or infantile spasms, and abnormal cobalmin metabolism. Along with Professors Shaikh and van Hove, we described HCFC1 deficeincy and later show that this disorder can mimic abnormal biochemistry of NKH. We also described the inital patient with CARS2 encephalopthay, a mitochondrial disorder and that presented with epileptic encpahlopathy, and a novel biomaker for ECHS1 where patients have leigh syndrome and (at least for most patients) seizures.
- 🧬 A rare X-linked cobalamin disorder: HCFC1 [Link]
- 🧬 HCFC1 and elecated CSF glycine and MMA levels [Link]
- 🧬 Mutations in CARS2 leads to a severe epileptic encphalopathy [Link]
- 🧬 The clinical and biochemical charecterization of ECHS1 defciency [Link]
Coughlin Research Laboratory Overview
We are a translational reserch laboratory focused on patient-centered reserach. We combine rigours scientic methods with patient engagement approaches.
Natural History Studies
Clincical outcomes help prioritze reserch goals and provide critical control data in clincial trials
Record of Collaboration
Collaboration with clinican and scientist advance research and translation of results to the bedside
Enagement Stratagies
Partnerships with patients and families to enusre our reserach goals are patient-centered
Model Systems for Rare Disease
Animal (zebrafish, mice) and human model systems to interrogate mechansim and novel treatments
Omics Expertise
Exerpience in genonmics, metaoblimics, 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
RC1 North, P18-3401A
Mail stop 8313
Aurora, Colorado 80045