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Articles by Michael E. March
Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis - Nature Communications
Abstract Atopic dermatitis is a highly heritable and common inflammatory skin condition affecting children and adults worldwide. Multi-ancestry approaches to atopic dermatitis genetic association studies are poised to boost power to detect genetic signal and identify loci contributing to atopic dermatitis risk. Here, we present a multi-ancestry GWAS meta-analysis of twelve atopic dermatitis cohorts from five ancestral populations totaling 56,146 cases and 602,280 controls.
N-Acetylcysteine for Hereditary Cystatin C Amyloid Angiopathy
Key Points Question What is the safety, tolerability, and efficacy of N-acetylcysteine (NAC) for patients with hereditary cystatin C amyloid angiopathy (HCCAA)? Findings In this open-label, nonrandomized clinical trial of 17 participants carrying the L68Q-CST3 sequence variation with HCCAA, high-dose NAC therapy reduced levels of biomarkers of disease progression in skin and plasma.
Multi-Ancestry Genome-Wide Association Meta-Analysis Identifies Novel Loci in Atopic Dermatitis
B.R.G, M.O., C.H., F.T., K.M.S are or were employees of AbbVie participated in the design, study conduct, interpretation of data, review, and approval of the publication. JEG has received research support from AbbVie, Janssen, Almirall, Prometheus Biosciences/Merck, BMS/Celgene, Boehringer Ingelheim, Galderma, Eli Lilly, and advisor to Sanofi, Eli Lilly, Galderma, BMS, Boehringer Ingelheim The remaining authors declare no competing interests. JEG, MKS, and LCT are supported by NIH-P30-AR075043.
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition
Abstract Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the lymphatics can result in debilitating and life-threatening disease with limited treatment options. We identified 4 individuals with CCLA, lymphedema, and microcystic lymphatic malformation due to pathogenic, mosaic variants in KRAS.
Genetic architecture of asthma in African American Patients
The Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA Faculty of Medicine, University of Iceland, Reykjavik, Iceland
A genome-wide association meta-analysis identifies new Eosinophilic esophagitis loci
This paper is only available as a PDF. To read, Please Download here. ABSTRACT Background Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder of the esophagus marked by eosinophilic infiltration. Cumulative evidence indicates that the risk of EoE involves the complex interplay of both genetic and environmental factors. As only a few genetic loci have been identified in EoE, the genetic underpinning of EoE remains largely elusive.
NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients
Abstract Hereditary cystatin C amyloid angiopathy is a dominantly inherited disease caused by a leucine to glutamine variant of human cystatin C (hCC). L68Q-hCC forms amyloid deposits in brain arteries associated with micro-infarcts, leading ultimately to paralysis, dementia and death in young adults.
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor
Abstract The treatment of lymphatic anomaly, a rare devastating disease spectrum of mostly unknown etiologies, depends on the patient manifestations1. Identifying the causal genes will allow for developing affordable therapies in keeping with precision medicine implementation2.
Novel locus for atopic dermatitis in African Americans and replication in European Americans
Publication History Published online: November 08, 2018Accepted: October 19, 2018; Received in revised form: October 5, 2018; Received: October 16, 2017;
Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)
Publication HistoryPublished online: December 18, 2017Accepted: November 1, 2017; Received in revised form: October 6, 2017; Received: February 16, 2017;
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders
Cumulative evidence indicates a shared genetic etiology of neurodevelopmental and neuropsychiatric diseases. We performed CNV meta-analysis in five major neurodevelopmental/psychiatric diseases. Using gene-based association statistics, we robustly meta-analyzed different psychiatric conditions across distinct microarrays. This is the first large-scale CNV meta-analysis across a spectrum of neuropsychiatric disorders.
Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene
This study was conducted at the Center for Applied Genomics (CAG) at the CHOP, and in the Generation R Study (GenR) at Erasmus University Medical Center, The Netherlands. The study was approved by the Institutional Review Board at the CHOP, and the Medical and Ethical Review Committee of the Erasmus University Medical Center. Written informed consent was obtained from all participants.
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