- 31/01/24 - 5 moduli, 1 ItemGroup, 3 elementi, 1 linguaggio
ItemGroup: pht005331

pht005332.v1.p1

1 ItemGroup 23 elementi

pht005333.v1.p1

1 ItemGroup 3 elementi

Eligibility

1 ItemGroup 3 elementi

pht005330.v1.p1

1 ItemGroup 4 elementi
- 21/02/23 - 6 moduli, 1 ItemGroup, 3 elementi, 1 linguaggio
ItemGroup: pht006570

pht006571.v1.p1

1 ItemGroup 5 elementi

pht006572.v1.p1

1 ItemGroup 2 elementi

pht006573.v1.p1

1 ItemGroup 8 elementi

pht006574.v1.p1

1 ItemGroup 5 elementi

Eligibility

1 ItemGroup 3 elementi
- 04/11/22 - 10 moduli, 1 ItemGroup, 32 elementi, 1 linguaggio
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 elementi

pht002963.v1.p1

1 ItemGroup 3 elementi

pht002964.v1.p1

1 ItemGroup 21 elementi

pht002965.v1.p1

1 ItemGroup 27 elementi

pht002966.v1.p1

1 ItemGroup 26 elementi

pht002967.v1.p1

1 ItemGroup 28 elementi
- 12/10/22 - 6 moduli, 1 ItemGroup, 2 elementi, 1 linguaggio
ItemGroup: pht001446
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.

pht002360.v3.p1

1 ItemGroup 7 elementi

pht001264.v4.p1

1 ItemGroup 5 elementi

pht001265.v4.p1

1 ItemGroup 5 elementi

pht001266.v4.p1

1 ItemGroup 10 elementi

Eligibility

1 ItemGroup 27 elementi
- 04/06/17 - 1 modulo, 6 itemgroups, 21 elementi, 1 linguaggio
Itemgroups: Inclusion Criteria Healthy volunteers, Inclusion Criteria Patients with atopic dermatitis, Inclusion Criteria Patients with Netherton Syndrome, Exclusion Criteria Healthy volunteers, Exclusion Criteria Patients with atopic dermatitis, Exclusion Criteria Patients with Netherton Syndrome

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