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  • Coughlin Research Lab
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    • Glutaric Aciduria Type 1
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    • Scientist and Ethicist Dr. Curtis Coughlin on helping kids with rare diseases
    • HCU America - Episode 36 with Dr. Curtis Coughlin
    • Navigating Rare Disease Advocacy: The CurePDE Journey
    • Keynote: AI for Scientific Discovery
    • Monthly Lab Seminar: Recent Advances in Quantum Materials
    • Hands-On Workshop: Machine Learning for Computational Biology
    • Dietary management for pyridoxine-dependent epilepsy
    • CRISPR Panel discussion
    • Ethical Considerations for Returning Clinical Genomic Results from a Population Biobank
    • Pyridoxine-dependent epilepsy
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      • Download the December 2025 Newsletter
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  • Publications
    • Drug Delivery Through Placenta and Then Breastmilk for Fetal Cystic Fibrosis: Collateral Benefit and Social Good Do Not Make an Acceptable Risk: Benefit Ratio
    • Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency
    • Feasibility of newborn screening for pyridoxine-dependent epilepsy
    • New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse
    • Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines
    • Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
    • Is it time to start to consider treating the liver in glutaric aciduria type 1?
    • Pyridoxine-dependent epilepsy: Current perspectives and questions for future research
    • Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
    • Clinical Reasoning: Pediatric Seizures of Unknown Cause
    • Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes
    • Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
    • A case for newborn screening for pyridoxine-dependent epilepsy
    • Defining the Critical Components of Informed Consent for Genetic Testing
    • Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study
    • Application of a framework to guide genetic testing communication across clinical indications
    • Development and application of an ethical framework for pediatric metabolic and bariatric surgery evaluation
    • Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
    • Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
    • Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey
    • Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
    • Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish
    • Pyridoxine-dependent epilepsy is more than just epilepsy
    • Developing interactions with industry in rare diseases: lessons learned and continuing challenges
    • Genetic Testing: Consent and Result Disclosure for Primary Care Providers
    • The 22q11 low copy repeats are characterized by unprecedented size and structural variability
    • Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype
    • Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening
    • Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background
    • The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
    • Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium
    • X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
    • Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
    • Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly
    • Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt
    • The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
    • Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
    • Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy
    • Low bone mineral density is a common finding in patients with homocystinuria
    • Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
    • Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
    • Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
    • Clinical and biochemical characterization of four patients with mutations in ECHS1
    • Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
    • Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
    • Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
    • Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
    • An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
    • Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency
    • Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
    • Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
    • Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns
    • Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency
    • Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
    • Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
    • Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry
    • Child neurology: a case illustrating the role of imaging in evaluation of sudden infant death
    • Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children
    • Nonketotic Hyperglycinemia
  • Publications
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  • Research Areas
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On this page

  • Download the December 2025 Newsletter

Coughlin Lab Newsletter

Jan 1, 2026·
Kristie Pauly
· 1 min read
Image credit: Unsplash

Download the December 2025 Newsletter

  • 🎉 Update on the fund raiser and donation from CurePDE
  • 📎 Dicussion of a recent paper from the CHARLIE consorium
  • 🧪 Updates on our PDE-ALDH7A1 animal models
Important

Read all of the archived Coughlin Lab Newsletters below

Last updated on Jan 8, 2026
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Winter Holiday Party 2025 Dec 18, 2025 →

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