A5080081243- Prenatal Screening and Diagnostics
- BRCA gene mutations in cancer
- Cystic Fibrosis Research Advances
- Hearing, Cochlea, Tinnitus, Genetics
- Hearing Loss and Rehabilitation
- Neurogenetic and Muscular Disorders Research
- Adolescent and Pediatric Healthcare
- Congenital Anomalies and Fetal Surgery
- Family and Disability Support Research
- Barrier Structure and Function Studies
- Ethics and Legal Issues in Pediatric Healthcare
- Amyotrophic Lateral Sclerosis Research
- Biomedical and Engineering Education
- RNA Research and Splicing
- Palliative Care and End-of-Life Issues
- Biochemical Analysis and Sensing Techniques
- Genomics and Rare Diseases
- Optimism, Hope, and Well-being
- Nuclear Structure and Function
- Family Support in Illness
- Nematode management and characterization studies
- DNA Repair Mechanisms
- Ear Surgery and Otitis Media
- Genetics, Bioinformatics, and Biomedical Research
- Sexual Differentiation and Disorders
Emory and Henry College
2024
Emory University
2022-2024
University of Virginia
2023
University of Pennsylvania
2023
Macquarie University
2023
University of Michigan
2023
Brandeis University
2019-2022
Women & Infants Hospital of Rhode Island
2006
National Human Genome Research Institute
2005
Colgate University
2004
Amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) spectrum disorders have a strong genetic component. Genetic counselors are limited resource, therefore, other providers must be prepared to integrate testing into their practice.
Mothers of children with haemophilia (CWH) experience guilt related to this genetic condition. Several factors contributing maternal have been identified, but the scope and extent not previously quantified.This study provides insight into mothers CWH how they perceive manage guilt. It then identifies most common helpful coping mechanisms.Between May October 2021, we distributed an anonymous electronic survey CWH. The Parent Experience Child Illness measured guilt, PROMIS Proxy for Life...
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by muscle weakness and with usually typical cognition. The first disease-modifying therapy for SMA, nusinersen, was approved the United States Food Drug Administration (FDA) in 2016 leads to improved outcomes, especially when administered presymptomatically. Population-wide carrier screening newborn (NBS) are now recommended several professional organizations promote reproductive autonomy, early diagnosis,...
Abstract Many current and upcoming healthcare providers do not feel comfortable ordering or discussing genetic tests using information in medicine. Nationally, a little over quarter of medical students indicate that they prepared to use clinical rotations, despite attempts at many schools remodel the genetics curriculum. This study was conducted Emory University School Medicine identify gaps within curriculum may contribute student reports underprepared apply knowledge practice. The analysis...
Protein transport between the nucleus and cytoplasm requires interactions nuclear pore complex proteins (nucleoporins) soluble factors (karyopherins, importins, exportins). Exactly how these contribute to nucleocytoplasmic of substrates remains unclear. Using a synthetic lethal screen with nucleoporin NUP1, we have identified conditional allele NUP82, encoding an essential protein in Saccharomyces cerevisiae. This nup82-3 also exhibits genetic mutants karyopherin MSN5. accumulate Msn5 export...
Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability with an estimated prevalence 1 in 7,000 males and 11,000 females. As such, American Academy Pediatrics (AAP) has recommended FMR1 repeat analysis as a first-tier test for patients developmental delay (DD), (ID), autism spectrum disorder (ASD). Several studies examined diagnostic rate FXS testing performed genetics clinics to be notably lower than expected.
Abstract Genetic counseling (GC) services are increasingly delivered by phone or video, resulting in more telehealth student rotations. The purpose of this study was to describe genetic counselors' utilization for supervision and compare how their comfort, preferences, perception the difficulty selected competencies vary between phone, in‐person supervision. In 2021, patient‐facing counselors North America with ≥1‐year GC experience who supervised ≥3 students last 3 years received an...
Abstract Genetic testing has allowed otolaryngologists to diagnose 40-65% of pediatric sensorineural hearing loss (SNHL) patients with a genetic disorder. Previous research focused on the utility in workup SNHL and otolaryngologists’ general understanding genetics. This qualitative study explores factors that influence United States initiate conversations about families loss, describes common practices among for accessing services, identifies barriers proposes potential solutions overcoming...