Abstracts – Medical Genetics Summer Scholar Program

2020 Scholars and Abstracts

Chloe Denham

Abstract: Exploring Telemedicine Delivery for Predictive Genetic Testing for Huntington’s Disease

As a 2020 Medical Genetics Summer Scholar, I had the opportunity to experience both the clinical and academic side of medical genetics. Through the program, I was able to observe out-patient genetics visits at UTPB and gain greater understanding of different genetic pathologies and testing available. There were several very interesting and complex cases that allowed me to expand my knowledge about the specialty of clinical genetics. Also, I attended genetic consults where I got to see patients in the NICU with possible and diagnosed genetic disorders. From these clinical experiences, I am now more confident about identifying facial and physical dysmorphic features, different genetic conditions, and knowing when a patient needs a genetic consult. Each week in Grand Rounds, I got to see the teamwork aspect of medical genetics and learned about genetic conditions and interesting cases. This summer I also worked on two different research projects about the use of telemedicine during the COVID-19 pandemic for predictive genetic testing with those at-risk for Huntington’s disease. From the research experience, I gained new skills in how to make an IRB application, how to construct a survey, and how to create a write-up for publication that will certainly help me in any research I complete in the future. Furthermore, I now have a better understanding of how genetic conditions such as Huntington’s disease can affect a patient and their family. After this summer, I have greater awareness for how important expanding access to clinical geneticists and genetics research is to the field of medicine.

Robert McAdams

Abstract: Patient Management and Surveillance Protocol Development for Lysosomal Storage Diseases

Throughout the 2020 Medical Genetics Summer Scholar Program, I have had the opportunity to gain valuable clinical experience as well as develop a research project of my own. With the guidance of Dr. Paul Hillman, MD/PhD and Victoria Wagner, CGC, I developed a standardized management and surveillance resource for some of the most common Lysosomal Storage Diseases (LSDs) seen in the UTPhysicians Lysosomal Storage Disease Center of Excellence. My work focused on compiling available literature resources and creating condition-specific multi-specialty management and surveillance guidelines for Fabry disease and Mucopolysaccharidosis IVA (Morquio syndrome). Experience with this project highlighted the pleiotropy of these disorders and the need for a coordinated approach for monitoring symptoms in each patient with these conditions. The objective of this project was to develop protocols that further ensure patients receive the most comprehensive and current standards of care, with the intent that they may be used as a framework for similar resources with regard to other LSDs in the future. As part of my time spent developing these materials and with my additional clinical observation opportunities, I have expanded my knowledge of and interest in genetic diseases. With the experience in the 2020 Medical Genetics Summer Scholar Program, I have been able to attend monthly UTPhysicians LSD Center of Excellence clinics, and learn a great deal about the vast array of other genetic conditions through UTPhysicians, Shriners Hospital for Children, and Harris Health System genetics clinics. Furthermore, I increased my education surrounding genetic disorders by also participating in genetics team consultations at Children’s Memorial Hermann Hospital and weekly Division of Medical Genetics Grand Rounds. Each facet of this program has grown my interest in the specialty of medical genetics.

Ikram Rostane

Abstract: The Clinical and Social Aspects of Glycogen Storage Disease

During the 2020 Medical Genetics Summer Scholars’ Program, I was able to explore the scope of the Medical Genetics specialty and understand not only the clinical aspects of a genetic diagnosis, but also the social effects. To do this, I was immersed in multiple clinics: Medical Genetics, Glycogen Storage Disease, Shriners Hospital Medical Genetics Clinic, and the Harris Health Pediatric and Adolescent Health clinic as well as attend consults at Children’s Memorial Hermann. I was able to follow a team of physicians and genetic counselors in order to be exposed to the different genetic explanations to some disorders as well as the Medical Genetics approach to history taking and physical exams. I was also able to see the psychological toll these disorders take on these individuals and their families. My research project on Glycogen Storage Disease (GSD) was under David F. Rodriguez- Buritica, MD, and Heather Saavedra, MS, RD, LD. For the GSD Project, we attempted to consolidate patients coming from the Connecticut GSD Program to our clinic by streamlining the intake process. I updated the new GSD diagnostic and clinical guidelines based on recent publications and revamped the UTHealth GSD website in preparation for these new patients. Lastly, I began looking at Alanine/Serine ratios and their relation to peripheral neuropathy in GSD patients.

2021 Scholars and Abstracts

Angela Yu

Abstract: Laboratory Values and Glycogen Storage Disease Type I (GSDI)

As a 2021 Medical Genetics Summer Scholar, I have greatly expanded my clinical skills and academic knowledge in the field of Medical Genetics. Clinically, I had direct patient interactions in the genetics outpatient clinics, observed rounds and consultations at Children’s Memorial Hermann Hospital, and attended weekly conferences including pediatrics and genetics grand rounds. Under the guidance of Dr. David Rodriguez-Buritica and Heather Saavedra, I also had the opportunity to explore genetics research and Glycogen Storage Disease Type I (GSDI). Because of the COVID-19 pandemic, it has become more difficult for GSD patients to come to their yearly hospital admission to monitor hourly glucose and lactate measurements to assess and modify medical management. Because of the inaccuracy of lactate measurements in the outpatient setting, the research study aims to identify alternative biomarkers to show level of metabolic control in patients with GSDI. This will allow us to better evaluate metabolic changes and to promote growth and development in these patients. These clinical and research experiences have given me a greater understanding of the impact of genetic conditions on patients and their families.

Elizabeth Langley

Abstract: NEXMIF Pathogenic Variants in Individuals of Korean, Vietnamese, and Mexican Descent

The 2021 Medical Genetics Summer Scholar Program has provided an invaluable opportunity for clinical experience this summer. During the program, I had the opportunity to shadow residents, attending physicians, and genetic counselors. Thus, I gained insight into the quality care and relationships fostered with patients in Medical Genetics clinics as well as hospital consults at Memorial Hermann. My time at the Glycogen Storage Disorder, Lysosomal Storage Disorder, Harris Health Pediatric and Adolescent Health, Medical Genetics, and Tuberous Sclerosis clinics provided opportunities for interaction with a wide variety of patients presenting with unique disorders and diagnoses. Under the guidance of my research mentors, Laura Farach, MD, and Kate Mowrey, MS, CGC, I was equipped with the skills and knowledge to carry out research on NEXMIF-related disorders and their role in X-linked intellectual disability. After thorough review of the literature, I collaborated with my mentor to write a case series on three patients we have seen at UTHealth this past year. Our study focused on the diversity of these patients and how clinicians can better identify and diagnose NEXMIF-related disorders in future populations. Overall, I greatly enjoyed the time spent learning more about the medical genetics specialty as this area of practice incorporates my love of children, individuals with special needs, and medicine.

Zoe Alaniz

Abstract: Genetic Diagnoses, Additional Anomalies, and Outcomes: A Retrospective Chart Review of Congenital Diaphragmatic Hernia Patients

As a 2021 Medical Genetics Summer Scholar, I learned about and experienced the diverse clinical and research opportunities available in the field of Medical Genetics. This program offered a unique blend of clinical exposure and research work, both of which embody important elements of the physician I aspire to be. I observed the care of patients with a vast array of genetic conditions and severity among multiple clinics, such as at Shriners Hospital for Children and at the UT Genetics Clinic in the Texas Medical Center. Alongside the clinical aspect of the program, I had the wonderful opportunity to work with Kathryn Gunther, MS, CGC, and Hope Northrup, MD, on a retrospective chart review about patients diagnosed with congenital diaphragmatic hernias (CDH). The purpose of our study was to consider cases of isolated CDH and CDH with additional anomalies to establish rates of genetic diagnoses, frequent diagnoses, chromosomal and single gene causes, and describe outcomes in both cohorts. The clinical significance of this study is in highlighting the early implementation of gene panels and exome sequencing in CDH patients with concurrent anomalies, as similar individuals are at a higher risk of mortality. Through this program, I was able to contribute to the field of Medical Genetics through research, learn clinical skills to serve this unique patient population, and receive mentorship from experts who make up the Medical Genetics community.

 

2022 Scholars and Abstracts

Myra Kurjee

Abstract: Testing the Cell Migration Function of Genomic Variants Discovered from Myelomeningocele Subjects

As part of the Medical Genetics Summer Scholars Program, I have had the opportunity to immerse myself in the field of Medical Genetics and develop a stronger understanding of a multitude of genetic disorders. Through both clinical and research involvement, I have been able to better understand patient experiences and contribute to the current knowledge in Medical Genetics. While shadowing in the various genetic clinics, I observed how patients with a wide range of genetic conditions are cared for and how a strong understanding of genetics, along with compassion and empathy, enable physicians to improve the lives of patients with even the most unique conditions. Along with the clinical exposure I received during this program, I had the opportunity to work with Kit Sing Au, PhD and Hope Northrup, MD on a study that assessed the functions of PTK2 gene variants in relation to cell migration. The purpose of this experiment was to assess the cell migratory capacity of PTK2 gene variants identified in patients with myelomeningocele, the most severe form of spina bifida. The preliminary analysis of this experiment illustrated that the PTK2 gene variants that were tested demonstrated decreased cell migration, which can disrupt normal neural tube development. This study has implications for prenatal spina bifida testing and can be used to enhance in-utero testing for myelomeningocele and other forms of spina bifida in the future. Ultimately, this program has further fueled my curiosity in the field of Medical Genetics, enabled me to contribute to the field through research, and taught me valuable clinical skills that will facilitate me in serving a diverse set of patients as a physician.

 

Jacquelyn McCullough

Abstract: Renal Disease in GSDIa Patients who are Homozygous for Common Hispanic Variant (c.379_380dupTA / p.Tyr128ThrfsTer3) and Comparison with Other Genotypes

In the Medical Genetics Summer Scholars Program, I have explored the most current diagnostic tools, treatments, and clinical presentations of many genetic disorders. I observed direct patient care in both the outpatient and inpatient setting and had the opportunity to contribute to the field of medical genetics by conducting relevant clinical research. The Summer Scholars Program has equipped me with practical knowledge in patient care, affirmation in my decision to pursue an internal medicine/genetics residency, and insights into future research endeavors. My project was a retrospective study that compared GSDIa patients who are homozygous for the common Hispanic variant (c.379_380dupTA) to GSDIa patients with other genotypes to determine whether c.379_380dupTA homozygotes have worse renal disease. GSDIa is a genetic disorder caused by defective glucose-6-phosphatase, which disrupts both glycogenolysis and gluconeogenesis in affected individuals. Renal impairment is a hallmark feature of GSDIa. Given that c.379_380dupTA is the most common pathogenic allele amongst our Hispanic patients and that Hispanic patients are the fastest growing patient population in the United States, it is especially pertinent to investigate this potential genotype-phenotype correlation. Preliminary results from findings in 24-hour urinalyses demonstrate that c.379_380dupTA homozygotes may have worse renal disease, evidenced by proteinuria, hypocitraturia, and hypercalciuria, than patients with other genotypes despite comparable metabolic control. This study further emphasizes the importance of vigilant renal monitoring and sequence analysis of G6PC1 in GSDIa patients in order to identify possible genotype-phenotype and further personalize clinical interventions.

Jacob T. Urbina

Abstract: “Clinical crossroads of the positive newborn screen: A dual institution retrospective chart review of suspected X-linked adrenoleukodystrophy (X-ALD) cases”

The 2022 Medical Genetics Summer Scholars Program fostered an environment to expand upon the basic sciences learned in the first year of medical school. Through supervised interactions with patients, I developed a better understanding of the clinical features and care of patients with genetic conditions. The program encouraged the development of medical and scientific communication skills by observing resident-to-attending case presentations and weekly conferences to review the patients seen throughout the week. Additionally, I explored topics in medical genetics and performed clinical research in the field. Under the direction of Dr. Paul Hillman, I investigated very long chain fatty acid (VLCFA) biomarkers for patients screened for X-ALD. Since X-ALD is one of the more recent diseases added to the Texas newborn screen, our study sought to investigate the trends of clinical diagnosis to inform care and follow-up trajectory implicated by the findings on the screen. Our findings validate the screening protocol of C26:0 LPC levels, and the data illustrates the complexities of clearing false positive patients from the screen, including other peroxisomal disorders with elevations in VLCFAs. I highly recommend the summer program as it has prepared me to be more clinically competent during the MS2 preceptorship and more scientifically literate to engage effectively in-patient care. The variety of patient experiences has made me more well-rounded and capable in the clinic setting