Other Genetics and Genomics Commons^™

Phylogenetic Inference Of Multiscale Selection Pressures Using A Continuous State Birth-Death Process, Marco Hamins-Puertolas, David Rasmussen

Biology and Medicine Through Mathematics Conference

No abstract provided.

Characterization Of Bacterial Isolates Obtained From Commercial Poultry Feed And Retail Food Using Whole Genome Sequence Analysis And Selected Biochemical Tests, Elena George Olson

Electronic Theses & Dissertations

The goals of this study is two-fold. The first part investigates bacterial isolates from commercial poultry feed and the second part deals with bacterial isolates recovered from retail food. In order to reduce pathogen contamination in poultry products identification of overall microbial populations in poultry production processing steps have always been considered an important monitoring tool for assessing sanitizer effectiveness and the corresponding responses of bacteria load levels on poultry carcasses. Bacterial isolates recovered from corn-based chicken feed were purified on aerobic plate count agar and eleven morphologically different colonies were selected for whole genome sequencing. In this part, the …

Recall Of Informed Consent For Prenatal Aneuploidy Screening, Taylor Cain, Michelle Kao, Elena Cothalis, Pranali Shingala

Human Genetics Theses

Several forms of prenatal screening and diagnostic testing are available that can provide information about the likelihood of a genetic or chromosomal condition in pregnancy. Each of the available technologies entail unique benefits and limitations, and patient comprehension of the differences among these tests is crucial to uphold the principle of informed consent. The primary research goal of our study was to establish what women recall of the benefits, risks, and limitations of the prenatal aneuploidy screening they were offered as a part of their prenatal care by their medical provider. A total of 349 women were surveyed and 182 …

Disability Service Learning: A Study On The Potential Impact Of An Educational Intervention On The Attitudes And Biases Of Genetic Counseling Students Toward Disability, Michelle Bina, Lucas Hollifield

Human Genetics Theses

Disability and how it is perceived and discussed has deep relevance to the practice of genetic counseling. Disability communities have expressed concerns with genetic counseling and the dissemination of misinformation surrounding disability, leading to discrimination and intolerance of diversity (Parens & Asch, 2003). In 2015, the Joan H. Marks Graduate Program in Human Genetics (JHMGPHG) at Sarah Lawrence College implemented coursework and internships for students in order to address these concerns under the educational intervention titled Disability Service Learning (DSL). This study aims to determine what impact this educational intervention has on the Sarah Lawrence genetic counseling students’ attitudes and …

Exploring Perceptions Of What Genetic Counseling Is Amongst Families Affected By Genetic Conditions, Who Have Not Yet Had Genetic Counseling Themselves, Stephanie Briana Cordeiro

Human Genetics Theses

This study aimed to understand the perceptions and expectations that individuals who are affected or who have a genetic condition have about genetic counseling. This was a qualitative study that aimed to improve understanding of the layperson’s perception of genetic counseling using interviews with participants. Interviews were conducted at Cardiff University in Cardiff, Wales. Interview transcripts were analyzed using thematic analysis to identify common themes amongst the participants’ perceptions and to assess where these perceptions differ from professional definitions of genetic counseling. Themes were analyzed using the five dimensions of empowerment. The omnipresent theme among the study was the expectation …

Genetic Counseling Approaches To Moderate-Penetrance Breast Cancer, Tanaya Shroff, Elizabeth Del Buono

Human Genetics Theses

ATM, CHEK2, and PALB2 are considered to be moderate-penetrance breast cancer susceptibility genes (MPBCSGs). MPBCSG mutation-carriers are predicted to have a lower risk for breast cancer than carriers of mutations in genes such as BRCA1, BRCA2, and other high-penetrance breast cancer susceptibility genes. Ninety-one practicing genetic counselors were surveyed to investigate genetic counselor utilization of the NCCN guidelines and recommendations for carriers of ATM, PALB2, and CHEK2 based on personal and family history of breast cancer. Although the majority indicated that they would follow the guidelines regardless of personal or family history of breast cancer, some genetic counselor recommendations exceeded …

Assessing The Impact Of Predictive Testing Protocols On Provider Burden For Huntington's Disease, Paige Ernste, Abigail Patenaude

Human Genetics Theses

Predictive testing for HD creates a potentially significant psychological burden on patients and their families, and in turn, the emotional strain of working with at-risk individuals may take a toll on providers. Protocols have been established by the HDSA that emphasize the importance of genetic counseling and support for individuals undergoing testing. Recently, the HDSA’s guidelines have switched from recommending a 3-visit protocol to a 2-visit protocol. Little is known about the effect of this change on genetic service providers, their practice, their perception of the patient experience, or the impact of their choice of protocol in terms of the …

Descriptive Analysis Of The Testing Outcome Populations Of A Highly Facilitated Cascade Genetic Testing Framework For Cancer Predisposition, Samantha R. Anderson

Human Genetics Theses

This research analyzes the demographic determinants of testing uptake in a highly facilitated cascade testing protocol pilot effort for families with inherited cancer-predisposing mutations. The program provided no-cost genetic testing to the family members of mutation carriers using direct contact, telephone genetic counseling, and mailed saliva kits. This facilitated intervention resulted in high uptake of testing for second degree relatives and reduced sex-based risk disclosure. Uptake rates were highest among females and older individuals. Young Caucasian males were most likely to decline testing. Contact was limited for non-Caucasian and international individuals with low English-language proficiency, resulting in lower uptake rates …

Genetic Counseling Students’ Attitudes Towards Psychiatric Illness, Rebecca Haegedorn, Patricia Thompson

Human Genetics Theses

Mental illness is very common, with some estimates that up to 50% of the population will experience a diagnosable mental illness in their lifetime (Moffitt et al., 2010). Because of this, genetic counselors are likely to come across mental illness in patients throughout their careers. Stigma towards mental illness is a well-documented phenomenon, both in society and in the healthcare field (Mann & Himelein, 2004; Nordt, Rӧssler, & Lauber, 2006; Reavley & Jorm, 2011). It is possible that estimates of negative attitudes and stigma collected from genetic counseling trainees in past studies are underestimates, as they have relied on measures …

Should Genetic Information Be Used To Determine Special Education Eligibility And Other Educational Services?, Nicholas Staropoli

Human Genetics Theses

Clinically, genetic testing is recommended for all children who have been diagnosed with autism. However, genetic testing is no longer being used solely as a medical tool and social uses of this are being introduced, such as in educational settings. But using this information to determine who is eligible for educational services introduces a litany of ethical, legal and social issues. We recruited 400 parents to complete an online survey to gauge their opinions on using genetic information to determine special education eligibility and other school services for children with autism. Overall, the 77.3% of parents were in support of …

Parental Perception Of Pediatric Clinical Exome Sequencing In A Latino Population, Daniel Luksic, Radha Sukhu

Human Genetics Theses

Clinical exome sequencing (CES) is an established method for genetic diagnosis that is commonly used in clinical practices. Studies examining the CES experience for families have primarily been non-Latino white participants who speak English. To begin to address how these experiences may differ in other populations, we conducted in-depth semi-structured interviews. Interviews were completed with 22 Latino parents (14 in English; 8 in Spanish) of children who had pediatric CES at Columbia University Medical Center and received results within three to 20 months of the interview. We also measured acculturation with a standardized scale. Similar to prior studies, parents reported …

Attitudes Of Healthcare Professionals Towards The Utilization Of Genetics Professionals Following The Diagnosis Of Autism Spectrum Disorder, Sydney Alexandra Lau, Tova Lejtman Wagner

Human Genetics Theses

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by social communication deficits and repetitive behaviors. A diagnosis of ASD can be made by various healthcare professionals, including developmental pediatricians, child neurologists, child psychiatrists, and child psychologists. As there is a significant genetic component to ASD, many professional organizations recommend that individuals diagnosed with ASD undergo some form of genetic testing; notably, psychological organizations do not make any such recommendation. Nevertheless, current literature has shown that most patients are not referred to genetics. This study compared the utilization of genetic professionals by physicians and psychologists. It was hypothesized …

Sun Exposure As A Risk Factor For Precipitating Vision Loss For Individuals With Lhon Mitochondrial Variants, Michelle Kowanda

Human Genetics Theses

Vision loss in Leber hereditary optic neuropathy (LHON, OMIM# 535000) is caused by pathogenic LHON associated mitochondrial DNA (mtDNA) variants that are often considered to be triggered by a second environmental stress (genotype-­ environmental double hit). A few studies have demonstrated associations between the onset of LHON vision loss and specific environmental stresses such as tobacco or alcohol use. Other plausible triggers, such as UV exposure through sunlight, has not yet been studied. The purpose of this study was to survey LHON patients’ lifestyle and habits to investigate the risk of light exposure on this population, including the correlation of …

Genetic Counseling Referrals And Genetic Profiles Of Male And Young Female Breast Cancer Populations, Ji-Sun Kim

Human Genetics Theses

Genetic counselling and genetic testing of breast cancer patients can be helpful in estimating recurrence risks and guiding clinical management. Genetic testing results are useful for family members and their medical decisions as well. However, not all breast cancer patients are eligible for genetic counselling, but must meet eligibility criteria in Ontario to be referred. We studied two groups of patients – male breast cancer patients and young female patients aged 35 or under – who make up of a small subset of overall breast cancer patients. These groups should be offered genetic testing irrespective of family history. They could …

Hypoglycemia In Mitochondrial Disorders, Allison Moats

Dissertations & Theses (Open Access)

INTRODUCTION: The electron transport chain (ETC) in mitochondria functions to produce energy in the form of adenosine triphosphate (ATP). Defects in the mitochondrial or nuclear DNA that codes for components of the ETC lead to mitochondrial disorders (MTDs). MTDs are multi-system conditions affecting the heart, muscles, and especially brain. The endocrine system is commonly affected in MTDs, and diabetes and hyperglycemia are established secondary diagnoses. Rates of non-iatrogenic hypoglycemia have not been studied in individuals with MTDs. This study aims to investigate the frequency of hypoglycemia in patients with MTDs.

METHODS: Individuals diagnosed with a ‘definite’ or ‘probable’ …

Exploring The Implementation Of Non-Traditional / Expanded Training For Genetic Counselors, Katia Dergham

Human Genetics Theses

With over a third of Genetic Counselors working in a Non-Traditional or expanded role, there is no denying that their knowledge and skills are transferable and being increasingly applied to roles outside the clinic. However, as of 2018, the Accreditation Council for Genetic Counselors (ACGC) practice standards require 50 core cases from a clinical setting while placements outside the clinic, such as a laboratory, research studies, or public health settings are considered enhancements, not requirements. Yet, the ACGC also states that “training should reflect current trends in the workplace,” leaving it up to training programs to decide how best to …

Adolescents’ Attitudes Towards Direct-To-Consumer Genetic Testing, Carli Andrews, J. Fitzpatrick Doyle, Rebekah Hutchins, Katherine Orr

Human Genetics Theses

The direct-to-consumer (DTC) industry is about a decade old; however, recent years have seen an increase in visibility and uptake due to decreasing prices, television advertisements, and other factors. In the 2018 DNA Day Essay Contest, high school students were asked to research a genetic disorder and to formulate a stance on whether medical professionals should be required for all genetic testing or if consumers should have access to direct-to-consumer testing. Within the 400 coded essays, 80.5% said yes to having a medical professional required and 20.5% said no. Qualitative analysis of the essays revealed the following major themes: benefit …

Genetic Modification Of Animals: Scientific And Ethical Issues, Jarrod Bailey

Genetic Engineering and Cloning Collection

No abstract provided.

Phylogeny Of The Australian Solanum Dioicum Group Using Seven Nuclear Genes: Testing Symon’S Fruit And Seed Dispersal Hypotheses., Christopher T. Martine, Ingrid E. Jordon-Thaden, Angela J. Mcdonnell, Jason T. Cantley, Daniel S. Hayes, Morgan D. Roche, Emma S. Frawley, Ian S. Gilman, David C. Tank

Faculty Journal Articles

The dioecious and andromonoecious Solanum taxa (the “S. dioicum group”) of the Australian Monsoon Tropics have been the subject of phylogenetic and taxonomic study for decades, yet much of their basic biology is still unknown. This is especially true for plant-animal interactions, including the influence of fruit form and calyx morphology on seed dispersal. We combine field/greenhouse observations and specimen-based study with phylogenetic analysis of seven nuclear regions obtained via a microfluidic PCR-based enrichment strategy and high-throughput sequencing, and present the first species-tree hypothesis for the S. dioicum group. Our results suggest that epizoochorous trample burr seed …

Deletion Of Uls1 Confers Damage Tolerance In Sgs1 Mutants Through A Top3-Dependent D-Loop Mediated Fork Restart Pathway, M. Rebecca Glineburg, Eleanor Johns, F. Brad Johnson

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Homologous recombination (HR)-based repair during DNA replication can apparently utilize several partially overlapping repair pathways in response to any given lesion. A key player in HR repair is the Sgs1-Top3-Rmi1 (STR) complex, which is critical for resolving X-shaped recombination intermediates formed following bypass of methyl methanesulfonate (MMS)-induced damage. STR mutants are also sensitive to the ribonucleotide reductase inhibitor, hydroxyurea (HU), but unlike MMS treatment, HU treatment is not accompanied by X-structure accumulation, and it is thus unclear how STR functions in this context. Here we provide evidence that HU-induced fork stalling enlists Top3 prior to recombination intermediate formation. The resistance …