A5018470606- Genomics and Rare Diseases
- Health Systems, Economic Evaluations, Quality of Life
- Health Literacy and Information Accessibility
- Web and Library Services
- Genomics and Chromatin Dynamics
- Social Media in Health Education
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Cystic Fibrosis Research Advances
Seattle Children's Hospital
2023-2025
Stanford University
2022-2024
University of California, Los Angeles
2021
ABSTRACT Perrault syndrome is a heterogeneous phenotype that generally encompasses the findings of sensorineural hearing loss in both 46,XX and 46,XY individuals varying degrees abnormal ovarian function individuals. In this case report, we present two brothers with LARS2 ‐related who have undervirilization. addition to bilateral profound loss, had undescended testes required surgical intervention. addition, younger affected brother hypospadias chordee. Quad exome sequencing on was...
Social media provides a potential avenue for genetic counselors to address gaps in access reliable genetics information rare disease communities. However, only limited research has examined patient and family attitudes toward engaging with through social media.Our study assessed the of members groups media, characteristics associated greater interest, benefits pitfalls various approaches such engagement.We conducted mixed methods survey patients recruited from systematic sample Facebook...
Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B ( KAT6B , a.k.a. MORF MYST4 ) results several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel variants. These patients exhibit a range of clinical phenotypes intellectual disability, mobility language difficulties, craniofacial dysmorphology, skeletal anomalies. Given the features...
PurposeRare diseases substantially contribute to population morbidity and mortality. Understanding rare disease health-related quality of life (HRQL) is essential for evaluating platform-based interventions that aim tackle multiple at a time. However, most HRQL studies focus on single or select group diseases, often in country. Our study aimed identify patient- disease-specific correlates across diverse diseases.MethodsWe conducted an international online survey patients caregiver proxies...
<sec> <title>BACKGROUND</title> Social media provides a potential avenue for genetic counselors (GCs) to address gaps in access reliable genetics information rare disease communities, but little research has examined patient and family attitudes toward online engagement. Our study assessed the of members social groups regarding such engagement, characteristics associated with greater interest benefits pitfalls various approaches engaging GCs through media. </sec> <title>OBJECTIVE</title>...