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The Pharmacogenetics Of Opioid Pain Management, MaryAnne Ventura, Lauren Desko, Kimberly Gathers, Ashley Overy, David Kisor 2019 Ohio Northern University

The Pharmacogenetics Of Opioid Pain Management, Maryanne Ventura, Lauren Desko, Kimberly Gathers, Ashley Overy, David Kisor

Pharmacy and Wellness Review

High rates of interpatient variability in drug metabolism and drug response for nearly all medications lead to the hypothesis that assessment of an individual patient's genotype with respect to their ability metabolize certain drugs can be a useful tool in predicting a patient's responsiveness to certain medications. Evaluating patients using pharmacogenomics as a basis for assessment could allow pharmacists to decide which treatment options would be most efficacious in a given patient and, thereby, have significant impact in the clinical setting. This holds true especially in the case of prodrugs, which require in vivo activation to an active ...


Preparing For The Genomic Age: Thiopurine S-Methytransferase Polymorphism, Hilary Stewart, Lisa Berni, Tyler Bulcher, Joel Rittenhouse, Ryan W. Naseman 2019 Ohio Northern University

Preparing For The Genomic Age: Thiopurine S-Methytransferase Polymorphism, Hilary Stewart, Lisa Berni, Tyler Bulcher, Joel Rittenhouse, Ryan W. Naseman

Pharmacy and Wellness Review

Interpatient variability among medication doses has been a long-standing obstacle for many prescribers. Some medications result in increased morbidity and mortality in a small percentage of the population. For many years, the cause of such toxicities was unknown. This mystery has been resolved by the discovery that the abscence or abnormality of specific genes that code for receptros, drug-treated proteins, drug transport mechanisms, and drug metabolizing enzymes could alter how an affected individual will respond to a given drug. One such incidence is the genetic polymorphism in thiopurine s-methytransferase (TPMT). In comprehending the mechanism of this polymorphism, it is important ...


Eugenics In The 21st Century, Jessica Linn Chin 2019 The Graduate Center, City University of New York

Eugenics In The 21st Century, Jessica Linn Chin

Dissertations, Theses, and Capstone Projects

Eugenics is the science of enhancing the human population through the management of breeding and hereditary traits. This thesis explores the history of eugenics and shows how eugenic practices continue in the 21st century with advancements in technology and positive eugenic goals that can result in adverse effects on the human body and society. When Sir Francis Galton coined the term eugenics in 1883, he intended to improve British society with the use of positive eugenics. Galton used positive eugenics to encourage people with good mental and physical qualities to produce more children. He avoided negative eugenics, which involved ...


Screening And Diagnosing Spinal Muscular Atrophy By Use Of Buccal Swabs: A Validation Study Using Ddpcr, Anna Mackay 2019 University of Connecticut

Screening And Diagnosing Spinal Muscular Atrophy By Use Of Buccal Swabs: A Validation Study Using Ddpcr, Anna Mackay

Honors Scholar Theses

Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder characterized by progressive muscle weakness due to the degeneration of motor neurons. SMA is caused by a homozygous deletion, mutation or rearrangement in the Survival Motor Neuron 1 (SMN1) gene. Survival Motor Neuron 2 (SMN2) is located tandem to SMN1 and is identical to SMN1 except for a single nucleotide substitution in exon 7. SMA diagnosis and carrier status can be determined by droplet digital PCR (ddPCR). This study sought to validate Bio-Rad’s ddPCR SMN1and SMN2 gene determination copy number assay for SMA diagnosis and screening using buccal swabs specimens ...


Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre 2019 Southern Methodist University

Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre

SMU Data Science Review

Identifying which genes are early indicators for preterm births using cell-free ribonucleic acid (cfRNA) from non-invasive blood tests provided by pregnant women can improve prenatal care. Currently, there are no medical tests for early detection of preterm birth risk in routine checkups for pregnant women. Recent studies have shown potential genes that can predict preterm birth. Machine learning techniques are utilized to see if the Area Under the Curve (AUC) can be improved upon when evaluating the prediction accuracy for chosen genes sequences and concentrations. Using cell-free RNA data from non-invasive blood tests in conjunction with machine learning, we improve ...


Risk Assessment, Genetic Counseling, And Genetic Testing For Brca-Related Cancer: Us Preventive Services Task Force Recommendation Statement, US Preventive Services Task Force, Douglas K. Owens, Lori Pbert 2019 Stanford University

Risk Assessment, Genetic Counseling, And Genetic Testing For Brca-Related Cancer: Us Preventive Services Task Force Recommendation Statement, Us Preventive Services Task Force, Douglas K. Owens, Lori Pbert

UMass Worcester PRC Publications

Importance: Potentially harmful mutations of the breast cancer susceptibility 1 and 2 genes (BRCA1/2) are associated with increased risk for breast, ovarian, fallopian tube, and peritoneal cancer. For women in the United States, breast cancer is the most common cancer after nonmelanoma skin cancer and the second leading cause of cancer death. In the general population, BRCA1/2 mutations occur in an estimated 1 in 300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases.

Objective: To update the 2013 US Preventive Services Task Force (USPSTF) recommendation on risk ...


Rheumatoid Arthritis-Relevant Dna Methylation Changes Identified In Acpa-Positive Asymptomatic Individuals Using Methylome Capture Sequencing., Xiaojian Shao, Marie Hudson, Ines Colmegna, Celia M T Greenwood, Marvin J. Fritzler, Philip Awadalla, T Pastinen, Sasha Bernatsky 2019 Children's Mercy Hospital

Rheumatoid Arthritis-Relevant Dna Methylation Changes Identified In Acpa-Positive Asymptomatic Individuals Using Methylome Capture Sequencing., Xiaojian Shao, Marie Hudson, Ines Colmegna, Celia M T Greenwood, Marvin J. Fritzler, Philip Awadalla, T Pastinen, Sasha Bernatsky

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To compare DNA methylation in subjects positive vs negative for anti-citrullinated protein antibodies (ACPA), a key serological marker of rheumatoid arthritis (RA) risk.

METHODS: With banked serum from a random subset (N = 3600) of a large general population cohort, we identified ACPA-positive samples and compared them to age- and sex-matched ACPA-negative controls. We used a custom-designed methylome panel to conduct targeted bisulfite sequencing of 5 million CpGs located in regulatory or hypomethylated regions of DNA from whole blood (red blood cell lysed). Using binomial regression models, we investigated the differentially methylated regions (DMRs) between ACPA-positive vs ACPA-negative subjects. An ...


How Rna Structure Dictates The Usage Of A Critical Exon Of Spinal Muscular Atrophy Gene, Natalia N. Singh, Ravindra N. Singh 2019 Iowa State University

How Rna Structure Dictates The Usage Of A Critical Exon Of Spinal Muscular Atrophy Gene, Natalia N. Singh, Ravindra N. Singh

Biomedical Sciences Publications

Role of RNA structure in pre-mRNA splicing has been implicated for several critical exons associated with genetic disorders. However, much of the structural studies linked to pre-mRNA splicing regulation are limited to terminal stem-loop structures (hairpins) sequestering splice sites. In few instances, role of long-distance interactions is implicated as the major determinant of splicing regulation. With the recent surge of reports of circular RNA (circRNAs) generated by backsplicing, role of Alu-associated RNA structures formed by long-range interactions are taking central stage. Humans contain two nearly identical copies of Survival Motor Neuron (SMN) genes, SMN1 and SMN2. Deletion or mutation of ...


Modeling Down Syndrome Neurodevelopment With Dosage Compensation, Jan T. Czerminski 2019 University of Massachusetts Medical School

Modeling Down Syndrome Neurodevelopment With Dosage Compensation, Jan T. Czerminski

GSBS Dissertations and Theses

Due to their underlying genetic complexity, chromosomal disorders such as Down syndrome (DS), which is caused by trisomy 21, have long been understudied and continue to lack effective treatments. With over 200 genes on the extra chromosome, even the specific cell pathologies and pathways impacted in DS are not known, and it has not been considered a viable target for the burgeoning field of gene therapy. Recently, our lab demonstrated that the natural mechanism of dosage compensation can be harnessed to silence the trisomic chromosome in pluripotent cells. Using an inducible XIST transgene allows us to study the effects of ...


New Insights Into Dna Methylation Signatures: Smarca2 Variants In Nicolaides-Baraitser Syndrome., Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg 2019 Children's Mercy Hospital

New Insights Into Dna Methylation Signatures: Smarca2 Variants In Nicolaides-Baraitser Syndrome., Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associated with genome-wide changes in DNA methylation (DNAm) in affected individuals termed DNAm signatures.

METHODS: Genome-wide DNAm was assessed in whole-blood samples from the individuals with pathogenic SMARCA2 variants and NCBRS diagnosis (n = 8) compared to neurotypical controls (n = 23) using the Illumina MethylationEPIC array. Differential methylated CpGs between groups (DNAm signature) were identified and used to generate a model enabling classification variants of ...


Integrative Analysis Of Vascular Endothelial Cell Genomic Features Identifies Aida As A Coronary Artery Disease Candidate Gene., Simon Lalonde, Valérie-Anne Codina-Fauteux, Sébastian Méric de Bellefon, Francis Leblanc, Mélissa Beaudoin, Marie-Michelle Simon, Rola Dali, Tony Kwan, Ken Sin Lo, T Pastinen, Guillaume Lettre 2019 Children's Mercy Hospital

Integrative Analysis Of Vascular Endothelial Cell Genomic Features Identifies Aida As A Coronary Artery Disease Candidate Gene., Simon Lalonde, Valérie-Anne Codina-Fauteux, Sébastian Méric De Bellefon, Francis Leblanc, Mélissa Beaudoin, Marie-Michelle Simon, Rola Dali, Tony Kwan, Ken Sin Lo, T Pastinen, Guillaume Lettre

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Genome-wide association studies (GWAS) have identified hundreds of loci associated with coronary artery disease (CAD) and blood pressure (BP) or hypertension. Many of these loci are not linked to traditional risk factors, nor do they include obvious candidate genes, complicating their functional characterization. We hypothesize that many GWAS loci associated with vascular diseases modulate endothelial functions. Endothelial cells play critical roles in regulating vascular homeostasis, such as roles in forming a selective barrier, inflammation, hemostasis, and vascular tone, and endothelial dysfunction is a hallmark of atherosclerosis and hypertension. To test this hypothesis, we generate an integrated map of gene ...


Updated Genes, Lifestyles, And Their Interactions For Human Longevity, Chun Xu, Brenda Bin Su, Alexis Villafranca, Chunxiang Mao, Stephanie Hernandez, Stephanie Lozano, Masoud M. Zarei, KeSheng Wang, Saraswathy Nair 2019 The University of Texas Rio Grande Valley

Updated Genes, Lifestyles, And Their Interactions For Human Longevity, Chun Xu, Brenda Bin Su, Alexis Villafranca, Chunxiang Mao, Stephanie Hernandez, Stephanie Lozano, Masoud M. Zarei, Kesheng Wang, Saraswathy Nair

Health and Biomedical Sciences Faculty Publications and Presentations

Healthy aging is the prolonging of optimal wellbeing during the progressive decline in physiological functions that are necessary for survival. Two important components of aging include an individual’s genetic makeup and lifestyle choices such as diet and exercise. Genetic factors are responsible for the functional physiology of the body including cell maintenance, metabolism and apoptosis. The individual effects of genes and lifestyle choices on aging are reported mainly in Caucasian populations, with very limited studies in minority populations. In this review, we included the effects of genes and environment and the interaction between them on aging in Hispanic population ...


Barriers And Facilitators To Genetic Testing For Familial Hypercholesterolemia In The United States: A Review, Rachele M. Hendricks-Sturrup, Kathleen M. Mazor, Amy C. Sturm, Christine Y. Lu 2019 Harvard Medical School

Barriers And Facilitators To Genetic Testing For Familial Hypercholesterolemia In The United States: A Review, Rachele M. Hendricks-Sturrup, Kathleen M. Mazor, Amy C. Sturm, Christine Y. Lu

Open Access Publications by UMMS Authors

Familial Hypercholesterolemia (FH) is an underdiagnosed condition in the United States (US) and globally, affecting an estimated 1/250 individuals. It is a genetic risk factor for premature cardiovascular disease and is responsible for an estimated 600,000 to 1.2 million preventable vascular events. Studies show that FH genetic testing can identify a causal gene variant in 60 to 80% of clinically suspected FH cases. However, FH genetic testing is currently underutilized in clinical settings in the US despite clinical recommendations and evidence supporting its use. Reasons for underutilization are not well understood. We conducted a literature review in ...


Autoimmune Polyglandular Syndrome Type 1: A Case Report And Brief Review., Ifeanyi Nwosu, Oreoluwa Oladiran, Chinyere Ogbonna-Nwosu, Anulika Anyata 2019 Leighton Hospital NHS Trust

Autoimmune Polyglandular Syndrome Type 1: A Case Report And Brief Review., Ifeanyi Nwosu, Oreoluwa Oladiran, Chinyere Ogbonna-Nwosu, Anulika Anyata

Reading Hospital Internal Medicine Residency

Autoimmune polyglandular syndrome (APS) type 1 is a rare autoimmune disorder inherited in an autosomal recessive pattern due to loss of function of the AIRE gene and defective removal of self-reactive T-lymphocytes during the process of thymic T cell maturation. Its manifestation starts early in life with the cardinal clinical disorders being one of muco-cutaneous candidiasis, Addison's disease, and hypoparathyroidism. Recognizing the syndromic nature of one autoimmune disease will facilitate an active search for other conditions which would allow early detection, management, follow-up, and most importantly patient education and counselling to avoid potential complications. We present the case of ...


Cyclin C Regulated Oxidative Stress Responsive Transcriptome In Mus Musculus Embryonic Fibroblasts, David C Stieg, Kai-Ti Chang, Katrina F Cooper, Randy Strich 2019 Rowan University

Cyclin C Regulated Oxidative Stress Responsive Transcriptome In Mus Musculus Embryonic Fibroblasts, David C Stieg, Kai-Ti Chang, Katrina F Cooper, Randy Strich

School of Osteopathic Medicine Faculty Scholarship

The transcriptional changes that occur in response to oxidative stress help direct the decision to maintain cell viability or enter a cell death pathway. Cyclin C-Cdk8 is a conserved kinase that associates with the RNA polymerase II Mediator complex that stimulates or represses transcription depending on the locus. In response to oxidative stress, cyclin C, but not Cdk8, displays partial translocation into the cytoplasm. These findings open the possibility that cyclin C relocalization is a regulatory mechanism governing oxidative stress-induced transcriptional changes. In the present study, the cyclin C-dependent transcriptome was determined and compared to transcriptional changes occurring in oxidatively ...


Gnrh Agonist Improves Hyperandrogenism In An Adolescent Girl With An Insulin Receptor Gene Mutation., Emily Paprocki, Romina Barral, Heidi Vanden Brink, Marla Lujan, Tania S. Burgert 2019 Children's Mercy Hospital

Gnrh Agonist Improves Hyperandrogenism In An Adolescent Girl With An Insulin Receptor Gene Mutation., Emily Paprocki, Romina Barral, Heidi Vanden Brink, Marla Lujan, Tania S. Burgert

Manuscripts, Articles, Book Chapters and Other Papers

Type A insulin resistance (IR) is caused by heterozygous mutations in the insulin receptor gene. It presents with mild acanthosis nigricans, severe IR, and hyperandrogenism in the absence of obesity or lipodystrophy. Treatment aims to improve insulin sensitivity and decrease androgens. An adolescent girl was evaluated for secondary amenorrhea and prominent hirsutism. She had a normal body mass index, and laboratory testing revealed an elevated LH to FSH ratio (LH 11.6 mIU/mL, FSH 4.2 mIU/mL), testosterone 96 ng/dL (reference range/dL), free testosterone 2.21 ng/dL (reference rangeA(pGly1032Asp)]. After standard treatment of hirsutism ...


The Impacts Of Insurance And Billing Considerations On The Practice And Attitudes Of Genetic Counselors, Emily Krosschell 2019 The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences

The Impacts Of Insurance And Billing Considerations On The Practice And Attitudes Of Genetic Counselors, Emily Krosschell

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Dissertations and Theses (Open Access)

Genesurance counseling has been identified as an integral part of many genetic counseling sessions, but little is known about the workflow impacts and genetic counselor perceptions of genesurance-related tasks. In this study, we aimed to characterize how insurance and billing considerations for genetic testing are being incorporated into genetic counselors’ practice; as well as describe current attitudes and challenges associated with their integration. An electronic survey was sent by email to members of the National Society of Genetic Counselors (NSGC). A total of 325 genetic counselors that provided direct patient care were included in data analysis. Results showed that the ...


Neuroblastoma In Adolescents And Children Older Than 10 Years: Unusual Clinicopathologic And Biologic Features, Laura McCarthy, Katherine Chastain, Terrie Flatt, Eugenio Taboada, Robert E. Garola, John Herriges, Linda D. Cooley, Atif Ahmed 2019 Children's Mercy Hospital

Neuroblastoma In Adolescents And Children Older Than 10 Years: Unusual Clinicopathologic And Biologic Features, Laura Mccarthy, Katherine Chastain, Terrie Flatt, Eugenio Taboada, Robert E. Garola, John Herriges, Linda D. Cooley, Atif Ahmed

Posters

This poster describes four cases of neuroblastoma diagnosed since 2008 in children greater than 10 years and presents their clinical, histologic and biologic features, emphasizing unusual clinicopathologic characteristics and the role of DNA microarray analysis and Next Generation Sequencing in their management.


Viral Whole Genome Sequencing For Antiviral Resistance In A Child With Dock8 Deficiency And Recurrent Hsv-1, Sean Stout, A. L. Greninger, Rangaraj Selvarangan, A. F. Freeman, Brandon D. Newell, Erin Stahl, Dwight Yin 2019 Children's Mercy Hospital

Viral Whole Genome Sequencing For Antiviral Resistance In A Child With Dock8 Deficiency And Recurrent Hsv-1, Sean Stout, A. L. Greninger, Rangaraj Selvarangan, A. F. Freeman, Brandon D. Newell, Erin Stahl, Dwight Yin

Posters

We present the case of a child with dedicator of cytokinesis 8 (DOCK8) deficiency and chronic, resistant HSV-1 mucocutaneous infections to illustrate the clinical utility of viral whole genome sequencing to detect active and latent HSV resistance mutations.


Mutant P53 Depletion By Natural Compounds, Mohamed A.A. Alalem, Sana Farooki, Tomoo Iwakuma 2019 Children's Mercy Hospital

Mutant P53 Depletion By Natural Compounds, Mohamed A.A. Alalem, Sana Farooki, Tomoo Iwakuma

Presentations

The goal of this research project is to identify and characterize potentially novel antineoplastic agents that could specifically degrade conformational mutP53 protein in cancer cells. We concluded that treatment of cancer cells with curcumin or PLINH compounds inhibit proliferation of cancer cells in a DNAJA1-misfolded mutp5-dependent manner. Delineation of the exact mechanism through which curcumin and PLINH exert their anti-cancer effects could pave the way for promising novel preventive and therapeutic modalities for cancer.


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