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dbGaP phs000961 eMERGE III: Columbia GENIE (Genomic Integration with EHR) - pht005331.v1.p1

- 1/31/24 - 5 forms, 1 itemgroup, 3 items, 1 language
Itemgroup: pht005331
Principal Investigator: Chunhua Weng, PhD, Department of Biomedical Informatics, Columbia University, College of Physicians and Surgeons, New York, NY, USA MeSH: NA,Renal Insufficiency, Chronic,Alzheimer Disease,Aortic Aneurysm, Abdominal,Asthma,Attention Deficit Disorder with Hyperactivity,Clostridium difficile,Dermatitis, Atopic,Diabetes Mellitus, Type 2,Heart Diseases,Herpes Zoster,Hypothyroidism,Methicillin-Resistant Staphylococcus aureus,Prostatic Hyperplasia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000961 The Columbia GENIE study contributes and shares phenotype and genotype data for individuals who were treated with our healthcare facilities and consented to share their data with dbGaP for scientific discovery. Some of these individuals have kidney or neurological problems and some are healthy volunteers from the Washington Height patient community. The purpose of this NOMAS study is to obtain information about physical features of the brain, carotid arteries, and heart. Some of our patients are pediatric patients with cardiac conditions. The study sample consists of four patient cohorts: - Northern Manhattan Study (NOMAS), N=1072 - Pediatric Cardiac Genomic Consortium (PCGC), n=374 - Caribbean Hispanics with Familial and Sporadic Late Onset Alzheimer's disease (Caribbean Hispanics/AD), n=330 - Alzheimer's Disease Sequencing Project (ADSP, n=44) - Genetics of Chronic Kidney Disease Study, n=1256

pht005332.v1.p1

1 itemgroup 23 items

pht005333.v1.p1

1 itemgroup 3 items

Eligibility

1 itemgroup 3 items

pht005330.v1.p1

1 itemgroup 4 items

dbGaP phs001369 Germline hypomorphic CARD11 mutations in severe atopic disease - pht006570.v1.p1

- 2/21/23 - 6 forms, 1 itemgroup, 3 items, 1 language
Itemgroup: pht006570
Principal Investigator: Joshua D. Milner, MD, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA MeSH: Dermatitis, Atopic,Asthma,Food Hypersensitivity,Skin Diseases, Infectious https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001369 We described five patients from four unrelated families who had severe atopic dermatitis and susceptibility to mild skin viral infections. Some patients also exhibited other allergic symptoms such as asthma and food allergy. We performed targeted sequencing for affected patients A-I of family A and B-I of family B, whole exome sequencing for D-I, D-II.1 and healthy mother D-II.3 of family D, and whole genome sequencing for C-I and healthy mother C-II.2 of family C. We identified three different novel damaging missense mutations of CARD11 (GeneID:84433) in patients A-I (L194P), B-I (R975W), and C-I (E57D). In patients D-I and D-II.1, a dup183_196 (p.K196_V197insMKEERDSYNDELVK) mutation was found in the coil-coil domain of the protein. These mutations act as dominant negatives impeding the scaffolding function of the wild type protein, which leads to downstream NF-kB and mTORC1 signaling defects after TCR stimulation. Sanger sequencing later identified the corresponding CARD11 mutations in the affected family members (C-II.1, D-II.2) that are not included in the dbGaP submission. Hypomorphic CARD11 dominant negative mutants are novel causes of severe atopic disease.

pht006571.v1.p1

1 itemgroup 5 items

pht006572.v1.p1

1 itemgroup 2 items

pht006573.v1.p1

1 itemgroup 8 items

pht006574.v1.p1

1 itemgroup 5 items

Eligibility

1 itemgroup 3 items

dbGaP phs000490 A Study of the Genetic Causes of Complex Pediatric Disorders - pht002969.v1.p1

- 11/4/22 - 10 forms, 1 itemgroup, 32 items, 1 language
Itemgroup: pht002969
Principal Investigator: Hakon Hakonarson, MD, PhD, Center for Applied Genomics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA MeSH: Asthma,Attention Deficit Disorder with Hyperactivity,Dermatitis, Atopic,Gastroesophageal Reflux,Lipoproteins, LDL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000490 The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children's Hospital Healthcare Network and their parents may be eligible to take part in a major initiative to collect more than 100,000 blood samples, covering a wide range of pediatric diseases. A large majority of participants consenting to prospective genomic analyses also consent to analysis of their de-identified electronic medical records (EMRs). EMRs are longitudinal, with a mean duration of 6.5 years. CAG has committed to releasing genotype and phenotype data for 4000 individuals diagnosed with *asthma*, *ADHD*, *atopic dermatitis*, *GERD* (1000 for each), and 1000 individuals on the upper and lower ranges of *Low-Density Lipoprotein* (LDL) levels to dbGaP. We will also release genotype/phenotype of 3000 controls. Relevant phenotype data includes primary diagnoses (ICD9 codes), secondary diagnoses (ICD9 codes), medical procedures/tests conducted in relation to the phenotype, and a listing of relevant medications. Further details of CAG's research programs and capacity are available at: http://www.caglab.org

pht002961.v1.p1

1 itemgroup 3 items

pht002963.v1.p1

1 itemgroup 3 items

pht002964.v1.p1

1 itemgroup 21 items

pht002965.v1.p1

1 itemgroup 27 items

pht002966.v1.p1

1 itemgroup 26 items

pht002967.v1.p1

1 itemgroup 28 items

dbGaP phs000266 Skin Microbiome in Disease States: Atopic Dermatitis and Immunodeficiency - pht001264.v4.p1

- 1/29/25 - 6 forms, 1 itemgroup, 5 items, 1 language
Itemgroup: pht001264
Principal Investigator: Julia Segre, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA MeSH: Dermatitis, Atopic,Job's Syndrome,Wiskott-Aldrich Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000266 The NIH Intramural Skin Microbiome Consortium (NISMC) is a collaboration of investigators with primary expertise in genomics, bioinformatics, large-scale DNA sequencing, dermatology, immunology, allergy, infectious disease, and clinical microbiology. Atopic dermatitis (AD, "eczema") is a chronic relapsing skin disorder that affects ~15% of U.S. children and is associated with $1 billion of medical costs annually. AD is characterized by dry, itchy skin, infiltrated with immune cells. Colonization by Staphylococcus aureus (S. aureus) is ten-fold more common in AD patients and is associated with disease flares. We hypothesize that, in addition to S. aureus, AD may also be associated with additional novel microbes and/or selective shifts of commensal microbes that are relevant to disease progression. The NISMC seeks to define the microbiota that resides in and on the skin and nares of three patient groups, all of whom have eczematous lesions and are currently seen at the NIH Clinical Center: (1) AD patients; (2) Wiskott-Aldrich syndrome (WAS) patients; and (3) Hyper IgE syndrome (HIES) syndrome patients. Examination of the microbiome of patients with WAS or HIES syndromes, both rare immunodeficiencies, will advance our understanding of how an individual's immune system shapes their cutaneous microbial community. We are performing a prospective longitudinal study that follows these groups of patient thorough the cycles of eczema flares, ascertaining clinical data and samples at each stage.

pht001265.v4.p1

1 itemgroup 5 items

Eligibility

1 itemgroup 27 items

pht001266.v4.p1

1 itemgroup 10 items

pht001446.v4.p1

1 itemgroup 2 items

pht002360.v3.p1

1 itemgroup 7 items

Eligibility Dermatitis, Atopic NCT02343783

- 5/14/16 - 1 form, 2 itemgroups, 16 items, 1 language
Itemgroups: Inclusion Criteria, Exclusion Criteria
A Study to Evaluate Use of Induced Skin Blisters in Adult Participants With Atopic Dermatitis, Allergic Asthma and Atopic Healthy Participants; ODM derived from: https://clinicaltrials.gov/show/NCT02343783

Eligibility Atopic Dermatitis NCT01234909

- 4/21/16 - 1 form, 2 itemgroups, 9 items, 1 language
Itemgroups: Inclusion Criteria, Exclusion Criteria
Asthma, Missed Immunizations, and Vitamin D Deficiency in Atopic Dermatitis; ODM derived from: https://clinicaltrials.gov/show/NCT01234909

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