Proactive Variant Effect Mapping to Accelerate Genetic Diagnosis for Pediatric Cardiac Arrest

While genetic testing is becoming standard of care for patients with potentially inherited cardiovascular disease, the prevalence of uncertain results severely limits its utility. One promising approach is to generate variant effect maps that report the function of all possible variants in a gene prospectively. The proactive clinical application of these maps is nascent, and requires careful integration with current American College of Medical Genetics guidelines for variant interpretation. Here, we describe three pediatric cases of cardiac arrest or sudden cardiac death with variants of uncertain significance in calmodulin genes. We demonstrate the prospective clinical utility of a calmodulin variant effect map to inform variant interpretation, and therefore diagnosis and family care, in each case. This study was approved by the Stanford University and Vanderbilt University Medical Center IRBs. Consent was waived based on low risk of de-identified retrospective data collection per the IRB.

Literatura interamericana e literatura brasileira nos Estados Unidos / Inter-American Literature and Brazilian Literature in the United States

Entrevista com professor Earl Fitz, da Vanderbilt University.

Creating Magical Research: Writing for a Felt Reality in a More-Than-Human World

We work in the ruins of a world that has produced those ruins (Sauvé, 2017; Tsing in The mushroom at the end of the world: On the possibility of life in capitalist ruins. Princeton University Press, 2015), this time often referred to as the Anthropocene, science educators and researchers have been called to break with post-positivism, dualisms, and reductionism to settle on new onto-epistemological grounds (Bazzul and Kayumova,.Educational Philosophy and Theory 48:284–299, 2016; Haraway, D. (2016). Staying with the trouble: Making kin in the Chthulucene. Duke University Press.; Lather & St. Pierre in International Journal of Qualitative Studies in Education 26:629–633, 2013). One promising proposition lies in ontologies of process and epistemologies that expand to encompass affect with new combinations of knowing/experiencing/researching that honor the more-than-human world we need to navigate (Manning, E. (2013). Always more than one: Individuation’s dance. Duke University Press.; Muraca,.Environmental Values 20:375–396, 2011). In this chapter, I will introduce artful writing as inquiry in science education and explain the elements of magical realism that may contribute to works that reverberate with the-more-than-human world of the Anthropocene (Faris, W. (2004). Ordinary enchantments. Vanderbilt University Press.; Manning, E. (2016). The minor gesture. Duke University Press.; (Richardson & St. Pierre in The Sage handbook of qualitative research. Sage, 2005).

Analysis of Islet Function by Glucagon Enzyme-linked Immunosorbent Assay (ELISA) v1

This Standard Operating Procedure (SOP) is based on the Vanderbilt University Medical Center Human Islet Phenotyping Program (HIPP) Islet Functional Analysis. This SOP provides the HIPP procedure for measuring islet glucagon content and secretion to assess islet function. This SOP defines the assay method used by the Human Islet Phenotyping Program (HIPP) for the qualitative determination of the Purified Human Pancreatic Islet product, post-shipment, manufactured for use in the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)-sponsored research in the Integrated Islet Distribution Program (IIDP). The goal of this SOP is to define the method for quantitative determination of glucagon released after secretagogue stimulation for proving the potency of the human islet preparation shipped by the IIDP.

Analysis of Islet Function by Insulin Enzyme-linked Immunosorbent Assay (ELISA) v1

This Standard Operating Procedure (SOP) is based on the Vanderbilt University Medical Center Human Islet Phenotyping Program (HIPP) Islet Functional Analysis. This SOP provides the HIPP procedure for measuring islet insulin content and secretion to assess islet function. This SOP defines the assay method used by the Human Islet Phenotyping Program (HIPP) for the qualitative determination of the Purified Human Pancreatic Islet product, post-shipment, manufactured for use in the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)-sponsored research in the Integrated Islet Distribution Program (IIDP). The goal of this SOP is to define the method for quantitative determination of insulin released after glucose stimulation for proving the potency of the human islet preparation shipped by the IIDP.

Virtual Vanderbilt Summer Science Academy highlighted the opportunity to impact early STEMM students career knowledge through narrative

Due to COVID-19 precautions, the Vanderbilt University summer biomedical undergraduate research program, the Vanderbilt Summer Science Academy (VSSA), rapidly transitioned from offering an in-person training program to a virtual seminar format. Our program typically supports undergraduate development through research and/or clinical experience, meeting with individuals pursuing postgraduate training, and providing career development advice. Evidence supports the idea that summer programs transform undergraduates by clarifying their interest in research and encouraging those who haven’t previously considered graduate studies. We were interested in exploring whether a virtual, synchronous program would increase participants’ scientific identity and clarify postgraduate career planning. Rather than create a virtual research exposure, our 5-week "Virtual VSSA" program aimed to simulate the casual connections that would naturally be made with post-undergraduate trainees during a traditional summer program. In seminars, presenters discussed 1) their academic journey, explaining their motivations, goals, and reasons for pursuing a career in science as well as 2) a professional story that illustrated their training. Seminars included Vanderbilt University and Medical School faculty, M.D., MD/Ph.D., as well as Ph.D. students from diverse scientific and personal backgrounds. In addition, weekly informational sessions provided an overview of the nature of each degree program along with admissions advice. Through pre-and post-program surveys, we found that students who registered for this experience already strongly identified with the STEMM community (Science, Technology, Engineering, Mathematics, and Medicine). However, participation in the Virtual VSSA increased their sense of belonging. We also uncovered a gap in participants’ understanding of postgraduate pathways prior to participation and found that our program significantly increased their self-reported understanding of postgraduate programs. It also increased their understanding of why someone would pursue a Ph.D. or Ph.D./MD versus M.D. These changes did not uniformly impact participants’ planned career paths. Overall, by providing personal, tangible stories of M.D., MD/Ph.D., and Ph.D. training, the Virtual VSSA program offered seminars that positively impacted students’ sense of belonging with and connection to the STEMM disciplines.

Which medical schools produce the most neurosurgery residents? An analysis of the 2014–2020 cohort

OBJECTIVE In this study, the authors sought to determine which US medical schools have produced the most neurosurgery residents and to evaluate potential associations between recruitment and medical school characteristics. METHODS Demographic and bibliometric characteristics were collected for 1572 residents in US-based and Accreditation Council for Graduate Medical Education (ACGME)–accredited neurosurgery programs over the 2014 to 2020 match period using publicly available websites. US medical school characteristics were collected, including class size, presence of a home neurosurgery program, number of clinical neurosurgery faculty, research funding, presence of a neurosurgery interest group, and a top 10 ranking via U.S. News & World Report or Doximity. Correlations and associations were then evaluated using Pearson’s correlation coefficient (PCC), independent-samples t-test, and univariable or stepwise multivariable linear regression, as appropriate. RESULTS Vanderbilt University produced the most neurosurgery residents as a percentage of medical graduates at 3.799%. Case Western Reserve University produced the greatest absolute number of neurosurgery residents (n = 40). The following factors were shown to be associated with a higher mean percentage of graduates entering neurosurgery: number of clinical neurosurgery faculty (PCC 0.509, p < 0.001), presence of a neurosurgery interest group (1.022% ± 0.737% vs 0.351% ± 0.327%, p < 0.001) or home neurosurgery program (1.169% ± 0.766% vs 0.428% ± 0.327%, p < 0.001), allopathic compared with osteopathic school (0.976% ± 0.719% vs 0.232% ± 0.272%, p < 0.001), U.S. News top 10 ranking for neurology and neurosurgery (1.923% ± 0.924% vs 0.757% ± 0.607%, p < 0.001), Doximity top 10 residency program ranking (1.715% ± 0.803% vs 0.814% ± 0.688%, p < 0.001), and amount of NIH funding (PCC 0.528, p < 0.001). CONCLUSIONS The results of this study have delineated which medical schools produced the most neurosurgery residents currently in training, and the most important independent factors predicting the percentage of graduates entering neurosurgery and the preresidency h-index.