A5011252215- Prion Diseases and Protein Misfolding
- Muscle Physiology and Disorders
- Neurological diseases and metabolism
- Genomics and Chromatin Dynamics
- Trace Elements in Health
- Genomics and Rare Diseases
- Medical Imaging Techniques and Applications
- Cancer Genomics and Diagnostics
- Genetics and Physical Performance
- Cystic Fibrosis Research Advances
- Cardiovascular Effects of Exercise
- Cancer, Hypoxia, and Metabolism
- Immunodeficiency and Autoimmune Disorders
- RNA Research and Splicing
Case Western Reserve University
2020-2022
University Hospitals of Cleveland
2020
Center for Human Genetics
2019-2020
This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted American College of Medical Genetics Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines interpreting germline variants in genes with established relationships to SCID. The effort focused on 7 most common SCID-related identified SCID newborn screening North America: ADA , DCLRE1C IL2RG IL7R JAK3 RAG1...
Abstract Background Prion diseases are a group of lethal neurodegenerative conditions that occur when the normal, cellular form prion protein (PrP C ) is converted into an abnormal, scrapie, Sc ). Disease may be caused by genetic, infectious, or sporadic etiologies. The genetic disease comprises~10%–15% all cases. typically inherited in autosomal dominant manner. low incidence makes it highly unlikely patient would have two different pathogenic variants. However, we recently identified case...