A5086176640- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Protein Tyrosine Phosphatases
- Epilepsy research and treatment
- Congenital heart defects research
- Diversity and Career in Medicine
- Childhood Cancer Survivors' Quality of Life
- Plant Reproductive Biology
- Ethics and Legal Issues in Pediatric Healthcare
- Medical Education and Admissions
- Congenital Heart Disease Studies
- Galectins and Cancer Biology
- Health, psychology, and well-being
- Plant Molecular Biology Research
- Pharmacological Effects and Toxicity Studies
- Agriculture and Farm Safety
- Social Work Education and Practice
- Interprofessional Education and Collaboration
- Reproductive Health and Technologies
- Career Development and Diversity
- Innovations in Medical Education
- Macrophage Migration Inhibitory Factor
- Patient Dignity and Privacy
University of Pennsylvania
1993-2024
California University of Pennsylvania
2024
Arcadia University
2009-2022
East Sussex Healthcare NHS Trust
2021
University City Science Center
1997
PurposePathogenic variants in SCN2A cause a wide range of neurodevelopmental phenotypes. Reports genotype–phenotype correlations are often anecdotal, and the available phenotypic data have not been systematically analyzed.MethodsWe extracted information from primary descriptions SCN2A-related disorders literature between 2001 2019, which we coded Human Phenotype Ontology (HPO) terms. With higher-level phenotype terms inferred by HPO structure, assessed frequencies clinical features...
Advances in whole genome and exome sequencing (WGS/WES) technologies have led to increased availability clinical settings. Currently, there are few guidelines relating the process content of informed consent for WGS/WES, nor which results should be returned families. To address this gap, we conducted focus groups assess views professionals, parents, adolescents future implementation WES. The discussions assessed understanding risks benefits WES, preferences discussion, return results,...
STXBP1-related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models formal frameworks to assess lived experience individuals their families provide a basis for generating outcome measures.
Abstract Background Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra‐cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the phenotype our cohort fetuses with Methods Case‐control study evaluated from 2016 2022. The group included laboratory confirmation control pregnancies conotruncal cardiac anomalies normal microarray as well structurally microarray. CSP routinely measured during anatomical ultrasound in all...
We describe mutations of three genes in Arabidopsis thaliana — extra cotyledon1 ( xtc1 ), cotyledon2 xtc2 and altered meristem programming1 amp1 )—that transform leaves into cotyledons. In all these mutations, this transformation is associated with a change the timing events embryogenesis. delay morphogenesis embryo proper at globular-to-heart transition but permit shoot apex to develop an unusually advanced stage late Both have little or no effect on seed maturation do not affect viability...
Aim To summarize quality of life (QoL) and its determinants, including disease severity, in individuals with developmental epileptic encephalopathies (DEEs) through a tailored questionnaire. Method A questionnaire containing 89 items addressing demographic characteristics, genetic diagnosis, clinical features, QoL was distributed to primary caregivers DEEs patient advocacy organizations. Composite scores were generated from the mean values items, grouped into domain scores. Results Out 176...
Patients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities challenges. Direct connection can occur between patients using online tools such as Facebook LinkedIn. In addition, gather information about a search engine Google, referred to patient-targeted Googling (PTG). An 54-item survey was used gain on (1) how what extent genetic counseling students counselors connect directly with media sites, (2) PTG. Four hundred participated in the...
We investigated estimated offspring risk among people with epilepsy and factors important in the family-planning process. Data were collected for 88 participants using a questionnaire assessing perceived of to develop epilepsy, importance reproductive decision-making process, decision have fewer children, association between perception family planning decisions. Thirty-four percent had children because their epilepsy. Concerns about ability care child (p < 0.0001) passing onto = 0.003)...
Schizophrenia is a common complex condition, for which no genetic testing yet clinically available. Genetic counseling psychiatric disorders viewed by counselors as growth area, and to meet any increase in demand it important understand existing context. Thus, we surveyed general practice members of the National Society Counselors, examine perceptions attitudes relating schizophrenia. A total 136 completed survey, whom 50% were engaged roles therefore eligible participate. Of these, 40%...
Abstract Costello syndrome is a rare genetic condition caused by heterozygous alterations in HRAS and characterized multi‐system abnormalities. Individuals with usually present severe feeding difficulties infancy, short stature, coarse facial features, increased tumor risks, cardiac neurological complications, intellectual disability orthopedic complications. This study further defines the manifestations affecting individuals syndrome. We studied 43 participants performed medical records...
Since its establishment over 40 years ago, the genetic counseling profession has grown to an estimated ~4,000 professionals in North America. While maintained Master's degree as entry-level and terminal degree, many other allied health professions have added advanced training pathways, such clinical doctorate (ClinD) either optional post-professional or required degree. Discussions regarding degrees also occurred within profession, dating back early 1980s. In 2011, Genetic Counseling...
Abstract Objective To determine if the presence of fetal growth restriction (FGR) is associated with an increased risk genetic abnormalities in setting congenital heart disease (CHD). Methods This was a retrospective cohort study involving pregnancies that met following criteria: (i) prenatal diagnosis CHD, (ii) singleton live‐birth, and (iii) testing performed either pre‐ or postnatally. Genetic results were reviewed by clinical geneticist for updated variant classification. Fetal...
Graduation from a genetic counseling graduate program accredited by the Accreditation Council of Genetic Counseling and certification obtained passing American Board (ABGC) examination are increasingly required to practice as counselor in USA. Despite ABGC serving gateway career, there have been no research studies date that examined what variables associated with performance. Therefore, Association Program Directors established Task Force assess whether trainee demographics, Grade point...
Plants proceed through several distinct phases of growth and development in their life cycle. Under normal conditions, one phase terminates as another begins, but the relative time at which initiate terminate can be altered experimentally. New phenotypes are obtained when two developmental expressed same time, well shifted coordinately. By analyzing these phenotypes, we learn how plants normally regulate transitions between phases.
Moral distress is the phenomenon whereby healthcare providers experience inability to take action or act in morally appropriate ways when encountering a compromising situation. The correlation of moral burnout and resignation nursing other fields has led increasing attention concern among professionals identify sources distress, as well find alleviate it. An online mix-method survey was sent NSGC members gain information on (1) (2) emotions involved, (3) coping strategies, (4) suggestions...
Aim: Patient knowledge and attitudes toward pharmacogenetic (PGx) testing may impact adoption of clinical testing. Methods: Questionnaires regarding knowledge, ethics PGx were distributed to 504 patients enrolled in the ADAPT study conducted at two urban hospitals Philadelphia, Pennsylvania, USA. Responses assessed using multivariable logistic regression. Results: 311 completed survey (62% response rate). 74% unaware testing, but 79% indicated results predict medication efficacy was...
Creation of an advanced degree in genetic counseling has been considered since the early 1980s. The Genetic Counseling Advanced Degree Task Force (GCADTF) was convened 2012 to formally explore potential suitability a clinical doctorate (ClinD), though employer perspectives training were not part discussion. conclusion this group that field ready move entry-level at time but further education and research among other stakeholders necessary (Nagy et al. 2014). In study, we describe employers'...
Abstract RBCK1 ‐related disease is a rare, multisystemic disorder for which our current understanding of the natural history limited. A number individuals initially carried clinical diagnoses glycogen storage IV (GSD IV), but were later found to harbor pathogenic variants, demonstrating challenges correctly diagnosing disease. This study out phenotypic comparison between and GSD identify features that clinically differentiate these diagnoses. Literature review retrospective chart identified...
Advancements in neuroimaging have led to increased detection of posterior fossa anomalies (PFAs) during fetal development, which highlights the importance genetic testing understanding their etiology. Dandy-Walker malformation is a PFA with strong associations disorders such as Walker-Warburg and Meckel-Gruber syndromes aneuploidies like trisomies 13 18. However, etiologies other types, especially isolated PFAs, are less understood. This study aims define PFAs within cohort fetuses from one...
SCN1A-related disorders constitute a spectrum of neurodevelopmental conditions that includes Dravet syndrome, genetic epilepsy with febrile seizures plus, and severe gain-of-function phenotype. Although portions this are well-described, longitudinal standardized study its phenotypic course has not yet been completed. Such project would permit more thorough understanding the natural history disorders—including breadth observable phenotypes disease over time.