A5020101317- Genomics and Rare Diseases
- Ethics in Clinical Research
- BRCA gene mutations in cancer
- Peroxisome Proliferator-Activated Receptors
- Metabolism and Genetic Disorders
- Cancer Genomics and Diagnostics
- Biomedical Ethics and Regulation
- Adipose Tissue and Metabolism
- Health and Medical Research Impacts
- Diversity and Career in Medicine
- Diet and metabolism studies
- Innovations in Medical Education
- Genetic factors in colorectal cancer
- Interdisciplinary Research and Collaboration
- CRISPR and Genetic Engineering
- Cellular transport and secretion
- Cardiovascular Function and Risk Factors
- Adenosine and Purinergic Signaling
- Ethics and Legal Issues in Pediatric Healthcare
- RNA modifications and cancer
- Metabolomics and Mass Spectrometry Studies
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Digestive system and related health
- Genomics and Phylogenetic Studies
Stanford University
2022-2024
Lucile Packard Children's Hospital
2023-2024
Stanford Medicine
2022-2024
Washington Center
2022
Medical University of South Carolina
2018-2019
Mass General Brigham
2019
National Human Genome Research Institute
2015-2018
National Institutes of Health
2015-2018
Pomona College
2014
Abstract ClinVar is a freely accessible, public archive of reports the relationships among genomic variants and phenotypes. To facilitate evaluation clinical significance each variant, aggregates submissions same displays supporting data from submission, determines if submitted interpretations are conflicting or concordant. The unit describes how to (1) identify sequence structural interest in by multiple searching approaches, including Variation Viewer (2) understand display evidence...
Genome and exome sequencing can identify variants unrelated to the primary goal of sequencing. Detecting pathogenic associated with an increased risk a medical disorder enables clinical interventions improve future health outcomes in patients their at-risk relatives. The Clinical Resource, or ClinGen, aims assess actionability genes disorders as part larger effort build central resource information regarding relevance genomic variation for use precision medicine research.
Data sharing between laboratories, clinicians, researchers, and patients is essential for improvements standardization in genomic medicine; encouraging data (GDS) a key activity of the National Institutes Health (NIH)-funded Clinical Genome Resource (ClinGen). The ClinGen initiative dedicated to evaluating clinical relevance genes variants use precision medicine research. Currently, originating from each aforementioned stakeholder groups represented ClinVar, publicly available repository...
The state of California (CA) added X-linked adrenoleukodystrophy (X-ALD) to newborn screening (NBS) in 2016 via the measurement C26:0-lysophosphatidylcholine (C26:0-LPC) a two-tier fashion, followed by sequencing
Here, we report an individual, eventually diagnosed with HMG-CoA synthase deficiency, who presented a cyclic vomiting phenotype. deficiency is rare disorder affecting ketone body synthesis in which affected individuals typically present at young age hypoketotic hypoglycemia, lethargy, encephalopathy, and hepatomegaly, usually triggered by catabolism (e.g., infection or prolonged fasting). This individual recurrent episodes of often associated hypoglycemia hyperglycemia, 3 years age....
Zellweger spectrum disorder (ZSD) is a group of autosomal recessive disorders caused by biallelic pathogenic variants in any one the 13 PEX genes essential for peroxisomal biogenesis. We report cohort nine infants who presented at birth with severe neonatal features suggestive ZSD and found to be homozygous variant PEX6 (NM_000287.4:c.1409G > C[p.Gly470Ala]). All were Mixtec ancestry identified California Newborn Screening (NBS) Program have elevated C26:0-lysophosphatidylcholine but no...
The Clinical Genome Resource (ClinGen) is a National Institutes of Health (NIH)-funded collaborative program that brings together variety projects designed to provide high-quality, curated information on clinically relevant genes and variants. ClinGen's EHR (Electronic Record) Workgroup aims ensure ClinGen accessible providers patients through related systems. This article describes the current scope these efforts progress date. public portal can be accessed at www.clinicalgenome.org.
Abstract We report three unrelated individuals, each exposed to maternal autoantibodies during gestation and found have elevated very long‐chain fatty acids (VLCFAs) in the newborn period after screening positive by California (NBS) for X‐linked adrenoleukodystrophy (ALD). Two probands presented with clinical laboratory features of neonatal lupus erythematosus (NLE); third had suggestive NLE a known history Sjogren's syndrome rheumatoid arthritis. In all subsequent biochemical molecular...
The field of genetics and genomics, like many areas medicine, has a history racial injustice racism. One factor that reinforced this is the continued role racism racialized structures in shaping how providers conduct clinical research practice. Despite there being recent calls for to enact antiracist reforms confront its eugenics reinforcement sociopolitical disparities health education, limited data exist on medical residents' perspectives their preparedness confronting issues
There is limited information on rationale for the current training structure within combined Pediatrics-Medical Genetics and Genomics Residency (MGG) residency programs. This study addresses benefits drawbacks of different structures. Program Directors (PDs) Associate PDs Pediatrics-MGG programs were surveyed to evaluate perceived structures relative importance particular pediatric rotations training. Programs varied in terms how many times a typical resident transitioned between Pediatrics...
Inherited syndromes of congenital enteropathy are rare, with many genetic causes described. Mutations the AP1S1 gene results in syndrome intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (IDEDNIK, formerly medical literature as MEDNIK). The clinicopathologic features IDEDNIK have not been fully explored. We describe a female infant who presented metabolic acidosis, lethargy, 14 watery stools per day. In intensive care unit she required...
While combined pediatrics and medical genetics genomics residency programs are growing in number applicants, there still workforce shortages within the field. Medical students would benefit from additional information on training pathways insight into application process itself. Program Directors of were surveyed to characterize factors that influence interview selection rank list decisions, logistics, recruitment, pathways. When evaluating representatives both involved screening process....