A5041185072- BRCA gene mutations in cancer
- Lysosomal Storage Disorders Research
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Family and Disability Support Research
- Trypanosoma species research and implications
- Studies on Chitinases and Chitosanases
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
- Assisted Reproductive Technology and Twin Pregnancy
- CRISPR and Genetic Engineering
- Metabolism and Genetic Disorders
- Nematode management and characterization studies
- Alkaline Phosphatase Research Studies
- Cystic Fibrosis Research Advances
- Biological Research and Disease Studies
- Autism Spectrum Disorder Research
- Pharmaceutical Economics and Policy
- Vitamin D Research Studies
- Health Systems, Economic Evaluations, Quality of Life
- Pineapple and bromelain studies
- Genetics, Bioinformatics, and Biomedical Research
- Bone health and osteoporosis research
- Genetics and Neurodevelopmental Disorders
- Reproductive Health and Technologies
Emory University
2000-2022
Screen
2022
Peachtree Orthopaedic Clinic
2015
Ethnicity-based carrier screening for the Ashkenazi Jewish population has been available and encouraged by advocacy community groups since early 1970's. Both American College of Medical Genetics Congress Obstetricians Gynecologists recommend this (Obstetrics Gynecology, 114(4), 950-953, 2009; in Medicine, 10(1), 55-56, 2008). While many physicians inquire about ethnic background offer appropriate screening, studies show that a gap remains implementing recommendations (Genetic testing...
Abstract Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative disorder. Hex analysis demonstrates near‐zero patients affected with TSD and can also identify carriers, whose single functional copy of results reduced relative to noncarriers. Although testing has been optimized widely used for carrier screening Ashkenazi Jewish (AJ) individuals, it unproven sensitivity...
Abstract Gaucher disease, a common lysosomal storage disorder, is associated with mutations at the acid β‐glucosidase (GCase) locus. Two affected individuals are described to share mutant allele, but manifest different clinical categorical phenotypes. A 57‐year‐old female, disease type 1 and Cherokee ancestry, was homozygous for rare allele encoding Lys79Asn (K79N). 2‐year‐old Caucasian male, 3 heteroallelic homozygote this same (K79N) novel complex mutation (null allele). The shared alleles...
<b><i>Background/Aims:</i></b> Access to preconception carrier screening, which provides at-risk couples with more reproductive options, is critically important. To address this need in the Jewish community, genetic counselors at Emory University launched JScreen (www.jscreen.org), a national online disease education and screening program. reach demographic, initiated study evaluating impact of marketing on knowledge activity college campuses....
Abstract JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and follow‐up genetic counseling services. In 2014, began reporting to patients variants uncertain significance (VUSs) in the gene causes Tay‐Sachs disease ( HEXA ). Genetic was provided discuss VUS were offered hexosaminidase A (HEXA) blood enzyme testing assist with reclassification. To identify patient reactions factors influencing...
Abstract Expanded carrier screening (ECS) is used to identify individuals and couples at risk for having children with recessive or X‐linked genetic conditions; however, personal health risks (PHR) can also be identified through this testing. There limited data on how counseling regarding PHR from ECS perceived by the individual, they use information. This study quantitatively surveyed these between September 2013 March 2020. The 30‐item survey included validated Genomics Outcome Scale Short...
<b><i>Introduction:</i></b> Ashkenazi Jewish (AJ) individuals face a 1 in 40 (2.5%) risk of having <i>BRCA</i> mutation, which is 10 times the general population risk. JScreen launched PEACH Study, telehealth-based platform for education and testing, with goal creating an effective model testing low-risk AJ who do not meet national criteria. Other goals were to determine rate mutations this group, assess adequacy screening 3 common founder only,...