Inside AJHG: A Chat with Amy O’Connell

Posted by: Sara Cullinan, PhD, Deputy Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Amy O’Connell, first author of ‘Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.’

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Amy O’Connell (front row, left) and her lab. (courtesy Dr. O’Connell)

AJHG: What prompted you to start working on this project?

Amy: My work in Dr. Agrawal’s genetics lab focuses on confirming the functional consequences of novel mutations identified by whole exome sequencing. We identified individuals from two families who harbor homozygous nonsense WNT2B mutations and display similar severe congenital diarrhea phenotypes, suggesting this is an important gene for gut physiology. It seemed important to try and get to the bottom of it, especially since what we observed differed from what mouse studies concluded, where knocking out Wnt2b revealed no gut phenotype.

AJHG: What about this paper/project most excites you?

Amy: I am an immunologist by training, so I am excited about the potential connections between inflammatory triggers and Wnt2b. Our paper begins to explore this relationship by showing that TLR4 expression is altered in the absence of Wnt2b, but I think there is more to this story and I’m continuing to work on it.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Amy: To me, this project underscores the importance of personalized medicine and genomics approaches. Wnts are a very important family of molecules, and WNT2B is highly expressed in the intestine, but until now it has been somewhat neglected, viewed as being non-essential, and thought to be fully redundant with other Wnt pathway molecules. That patients with loss of Wnt2b are so severely affected clearly suggests otherwise. Taking what we’ve learned from three patients will have implications for our entire understanding of the regulation of intestinal stem cells, a good reminder that translational science works in both directions.

AJHG: What advice do you have for trainees/young scientists?

Amy: First of all, be wary of free advice. It’s not usually about the advisee. Given that, one of the best lessons I’ve learned is that it is okay to change your plans if you find that what excites you in science is not what you started off trying to do or become.

AJHG: And for fun, tell us something about your life outside of the lab.

Amy: I have a 2-year old and two miniature schnauzers, so I get to do a lot of playing when I’m not at work. Yesterday I got to be a ballerina, ride to the “pizza store” on a “horse”, and build a doggy castle. It’s terrific exercise for the imagination!

Amy O’Connell, MD, PhD is a Neonatologist at Boston Children’s Hospital, and an instructor at Harvard Medical School. She has been an ASHG member since 2018. You can find her on Twitter at @PostCallScience.

Inside AJHG: A Chat with Garry Cutting

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG

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Garry R. Cutting, MD (courtesy Dr. Cutting)

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Garry Cutting, to discuss ‘Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.’

AJHG: What prompted you to start working on this project?

Garry: This project is part of an ongoing effort to interpret the molecular consequences of all variants in the CFTR gene. The variants selected for this study are associated with a wide-range of disease severity, allowing us to determine the utility of functional assays for variants that associate with moderate to mild forms of disease.

AJHG: What about this paper project most excites you?

Garry: We were surprised to find that a number of the putative disease-causing missense variants had minimal effect on protein function and that predictive algorithms have difficulty interpreting these “minimal effect” variants. Conversely, it was reassuring to find that incorporation of functional data improves annotation using expert and ACMG/AMP criteria.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the large human genetics community?

Garry: Missense variants are challenging to interpret and many are labeled as variants of unknown significance. Our study indicates that classifying missense variants, especially those associated with intermediate severity of disease, will require functional testing in the appropriate context. Our work also shows that current predictive algorithms should be used with caution as they tend to overcall missense variants as deleterious.

AJHG: What advice do you have for trainees/young scientists?

Garry: The explosion of DNA variant information provides a wonderful opportunity to investigate their effect upon RNA transcription, RNA splicing, protein stability, and protein function. Individuals who become facile with these techniques will be highly valued as we move from DNA sequencing to variant annotation and elucidation of disease mechanism.

AJHG: Tell us something about your life outside the lab.

Garry: I really enjoy working with my hands to repair something broken or build something new. Unlike the long time frames that we experience in science, fixing something can produce results in a much shorter time frame. Sometimes things go wrong, but you always seem to learn something new when you undertake projects that are out of your established area of expertise. Consequently, I fully agree that circuit breakers and water supply values should be turned off before undertaking home projects.

Garry Cutting, MD, is an Aetna/U.S. Healthcare Professor of Medical Genetics at John Hopkins. He has been a member of ASHG since 1997. 

Inside AJHG: A Chat with Neil Hanchard

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month, we check in with Neil Hanchard, a member of the ASHG Board of Directors and senior author of ‘Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.’

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Collaborative African Genomics Network (CAfGEN) group at a recent H3Africa meeting. (courtesy Dr. Hanchard)

AJHG: What prompted you to start working on this project? 

Neil: Serendipity. The nidus for the project was the Human Heredity and Health in Africa (H3Africa project), sponsored by the NIH and the Wellcome Trust. Some of our institutional partners in Africa approached us about participating in order to gain insights to the genetics underpinning disease progression in childhood HIV, which, unlike its adult counterpart, hasn’t been extensively studied at the genomic level. They needed someone who knew something about genomic studies and Africa, and I happened to be standing nearby (almost literally). As we started looking for genetic variants influencing the phenotype, it became plainly obvious that without a genomic context, particularly for the individuals from Botswana, we would be going in circles.

AJHG: What about this paper/project most excites you? 

Neil: Two things. First, the degree of uncaptured variation and the unique demographic features in our populations is exciting – if we can exploit them properly, there’s a real prospect of identifying new genes and variants that are relevant to HIV progression in children – that could be a game-changer; second, all the analyses were done by trainees from Botswana and Uganda. They have since taken that genomics experience and expertise back to their home institutions, which bodes well for the future of genomic research in Africa.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Neil: I hope it will make researchers and clinicians think more broadly about the genetic diversity across the continent. There’s a tendency in the field to think of ‘Africa’ as represented by the predominantly West African groups in publicly available datasets, but that’s only the proverbial tip of the iceberg. I hope this will give people a better understanding of the depth of diversity and genomic complexity that has to be considered in genetic studies of persons of African heritage.

AJHG: What advice do you have for trainees/young scientists?

Neil: I still think of myself as a ‘young scientist’, so I’d have to fall back on the words of my mentor as I was starting my lab – when I asked him what advice he had for me, he said, very unceremoniously, “don’t give up”. At the time, I recall thinking how incredibly underwhelming a response that was, but over time I’ve grown to see it as a genuine pearl of wisdom for a junior faculty (or trainee) enduring what can sometimes seem like a very long time in the academic wilderness.

AJHG: And for fun, tell us something about your life outside of the lab.

Neil: Is there life outside the lab? (jk!) Mostly, I spend my away-from-the-lab time with my family. Accompanying my wife to the various activities my sons are involved in – be it church choir, baseball, or chess – is really enjoyable. Otherwise, I like sports, so I try to make time to play or watch any of swimming, tennis, baseball, football…and on the few occasions when I get to go on vacation, I’m perfectly happy in Jamaica (where I’m from), reading a book beside the beach and listening to the waves crash.

Neil Hanchard, MD, PhD, FACMG, serves as Early-Career Member of the ASHG Board of Directors. He is an Assistant Professor and Clinical Geneticist at Baylor College of Medicine and Texas Children’s Hospital, and has been a member of ASHG since 2010.

Following the Path of ASHG’s Statement on Pediatric Genetic Testing

Posted By: Cara Cavanaugh, MSc, Cell Press

What happens to a paper once it is published? After the research is over, the proofs are reviewed, and the paper is out in the world, how is it used and by whom?

To answer these questions, we traced the post-publication trajectory of ASHG’s position statement, “Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.” The statement was published in The American Journal of Human Genetics (AJHG) in 2015 and was an update from two decades earlier. Following the history of the paper since its publication shows us the reach that an ASHG position statement can have over three years.

About the Position Statement

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Published in 2015, the statement has been cited by a variety of sources, including academic, legal, and public discourse.

The position statement gives recommendations for when and why families should decide to perform genetic tests on children and adolescents. “We felt that it was timely to update the statement across a range of issues,” says first author Jeffrey Botkin, MD, MPH, a professor and chief of the Division of Medical Ethics and Humanities at the University of Utah. “Our primary focus was genetically testing children for adult-onset conditions when there is no intervention during childhood. There hasn’t been a lot of research on the impact of such testing because folks felt that it was unethical under any context. We wanted to soften the perceived stance that such testing should never be conducted and have the position of the society be a little more flexible. We recognize that there may be circumstances when such testing might be appropriate for the child and family. We also wanted to encourage more research on these issues.”

Academic Citations and Public Conversation

Since its publication, the position statement is one of the top downloaded papers in AJHG’s history, with over 5,000 downloads as of 2018. After publication, to make the content more accessible to readers, ASHG created infographics that explain the issues and intricacy around childhood genetic testing. The paper has been cited by Genetics in Medicine, Pediatrics, Blood, Nature Reviews Genetics, and more than 80 other academic titles.

The statement has also been cited outside of the scientific research context. For example, it has impacted legal academic discourse. In one 2016 paper, Sénécal et al. discuss the legal approaches to healthcare decisions for minors in the European Journal of Human Genetics to the ASHG position statement as a “more nuanced approach” to how genetic testing should be pursued. They praise the statement for advising that physicians should inform families of all genetic testing options, even if the family has decided not to pursue any tests. Another paper by Otero in the European Journal of Health Law uses the position statement in a narrower context, specifically to analyze European and Spanish legal frameworks. These papers are just two of several examples of how one position statement from scientists can contribute to legal analysis internationally.

In addition to the academic studies discussed above, the position paper was also featured in the mainstream media. It gained coverage in NPR, VICE, and Pacific Standard. Exposure in these news sources helped engender public conversations online about the ethics of genetic testing in children.

What’s Next?

This paper shows the broad reach the ASHG community has in important societal and cultural issues of our time. As genetic testing appears more frequently in the news and becomes increasingly controversial, especially with products like direct-to-consumer genetic testing kits, it is imperative that we fully debate and consider how this could affect children and adolescents. ASHG policy statements, like the one published in 2015, provide us with long-lasting resources for continuing those discussions.

Cara Cavanaugh, MSc, is a Marketing Contractor at Cell Press. She earned a BA in History of Science from Princeton University and a MSc in Science Communication from Dublin City University while on a Fulbright Award.

Inside AJHG: A Chat with Alice Davidson

Posted By: Sarah Ratzel, PhD, Science Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview the authors of a recently published paper. This month, we check in with Alice Davidson, PhD, to discuss her paper, “Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity.

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(L-R) Kirithika Muthusamy, Christina Zarouchlioti, Alison Hardcastle, Alice Davidson, and Beatriz Sanchez-Pintado (courtesy Dr. Davidson)

AJHG: What caused you to start working on this project?

Alice: I work in the ophthalmic genetics field. Back in 2012, I was hugely intrigued by Eric Wieben and colleagues’ discovery that Fuchs endothelial dystrophy (FECD) was associated with a non-coding triplet repeat expansion within an intron of TCF4. I have always been fascinated by repeat expansion-mediated diseases and their respective pathophysiology. I also similarly have a longstanding interest in non-coding mutations and their contribution to human disease. The discovery that this non-coding repeat expansion was associated with a corneal endothelial disease, a group of conditions I had already begun to research with my mentor Alison Hardcastle and clinical collaborator Steve Tuft, gave me the impetus I needed to begin to develop my own independent research program. In 2015, I was awarded a Fight for Sight fellowship to work on the genetics of primary corneal endothelial disease and decided to initially focus my effort on developing endothelial cell culture methods to study the pathophysiology of TCF4 triplet expansion-mediated FECDs. Alison, Steve, and I subsequently partnered with Pete Adamson at ProQR therapeutics to explore the therapeutic potential of antisense oligonucleotides (ASO) therapy to treat this repeat expansion-induced pathology.

AJHG: What about this paper most excites you?

Alice: I find the translational potential of this project hugely exciting. FECD is a common, age-related disease. The non-coding TCF4 repeat expansion is now recognized as by far the most common genetic cause of the disease in a wide range of ethnically diverse populations. Invasive corneal transplantation surgery is the currently the only treatment option available to restore vision and prevent blindness for FECD patients. This treatment relies upon specialist facilities, can be associated with operative complications, and is dependent on the availability of healthy donor material, of which there is currently a global shortage. These issues, in addition to the global aging population, highlight the need for alternative and effective treatment strategies to be developed for FECD. Our paper highlights the potential of an ASO mediated therapy to treat this common, sight-threatening disease.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Alice: Our study has impact beyond the ophthalmic research field, given that a wide range of neurological and neuromuscular diseases are caused by similar repeat expansion mutations, such as Huntington disease, myotonic dystrophy, and amyotrophic lateral sclerosis/frontotemporal dementia. Using our patient-derived corneal endothelial cell model has enabled us to study the cellular consequences of the repeat expansion within its native genomic and cellular context. The cornea is an easily accessible tissue that can be readily monitored for pathological and sub-symptomatic signs, unlike many of the neuronal tissues affected by other repeat-mediated diseases. We hope that any future therapeutic advances regarding TCF4 repeat expansion-mediated FECD and using the eye as a model system could be adopted for other, less tractable, non-coding repeat expansion mediated disease.

AJHG: What advice do you have for trainees/young scientists?

Alice: Don’t be scared to just give things a try. Often, as scientists, we can feel overwhelmed by the enormity of what we are trying to achieve and it is easy to focus on the problems and limitations associated with our experiments. Overcoming our personal fears of failure and giving ‘the impossible’ a try can often lead to unexpected and rewarding outcomes. I believe that the saying ‘it is always better to have tried and failed than to have never tried at all’ is very applicable to science.

AJHG: And for fun, tell us something about your life outside of the lab.

Alice: I gave birth to my first child in October 2016 and since then my life has been a real juggling act between work and family. At the moment nothing makes me happier than spending quality time with my little boy and husband outside of work. I love to do bikram (hot) yoga to help me relax and generally lift my spirits, especially on dark, cold winter days – which are plentiful, living in London!

Alice Davidson, PhD, is a Senior Research Associate at the Institute of Ophthalmology at University College of London. She has been an ASHG member since 2018.

Inside AJHG: A Chat with Andy McCallion, Loyal Goff, and Paul Hook

Posted By: Sara Cullinan, PhD, Deputy Director, AJHG

Each month, the editors of The American Journal of Human Genetics interview the authors of a recently published paper. This month, we check in with Andy McCallion (@FunctionalDNA), Loyal Goff (@loyalgoff), and Paul Hook (@paul_hook_HuGen) of Johns Hopkins University to discuss their paper, “Single-cell RNA-seq of mouse dopaminergic neurons informs candidate gene selection for sporadic Parkinson’s disease.”

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(L-R) Paul Hook, Andy McCallion, and Loyal Goff

AJHG: What prompted you to start working on this project?

Andy: The challenge presented by endeavoring to connect common variation identified through genome wide association studies (GWAS) to affected genes and ultimately to the mechanistic understanding of disease gives all of us a headache. Where to start?

Although powerful, GWAS are inherently biologically agnostic. Despite the wealth of loci they implicate in disease, GWAS tell us nothing of the cellular context of disease or how variants mediate their effect/s. This, and the significant distances over which regulatory sequences/variants can act, complicates efforts to systematically identify gene candidates. We wanted to ask whether, beginning with an underlying biological insight into a pathologically vulnerable cell population, we could make progress on this challenge.

AJHG: What about this paper/project most excites you?

Andy: Perhaps the most exciting thing is that this work provides a biologically informed framework that systematically prioritizes candidate genes for an entire field, Parkinson’s Disease (PD). We were able to ask what (if anything) makes the transcriptomes of neurons in the substantia nigra unique among central nervous system dopamine neurons. We reasoned that any differences may contribute to their preferential vulnerability of this population in PD. The data we generated facilitated the exploration of gene networks underpinning the identity of all assayed dopamine subpopulations and in turn revealed that networks most associated with PD are active in the nigral population.

Stepwise integration of this data allowed us to establish a rubric, filtering over 1000 potential genes in 49 PD GWAS intervals to approximately 100. The genuine excitement was driven by the fact that the data holds up! Among these candidates are many established familial/syndromic PD genes. Further, we validate the functional requirement of a gene not previously known to be mutated in PD.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Andy: Our work demonstrates that starting from an informed biological hypothesis of (one) cellular context in which a subset of variation might be expected to mediate their effect, can yield robust, testable hypotheses of the genes modulated in disease. We’re not naïve enough to think this story is complete; we recognize that much more work needs to be done – similarly evaluating other cell populations, conditions, etc. Many others are similarly seeking ways to reveal what cellular contexts are most pertinent to a range of disorders. We see this as a proof of principle whose observations will (hopefully) synergize with those from other groups.

AJHG: What advice do you have for trainees/young scientists?

Andy: That’s a tough one! My advice would not be technical. I frequently joke with my trainees that life is not complicated – we all have only two responsibilities. First, you need to get the best out of yourself – work hard, be curious, invest in the intellectual and technical platform you create for your science, think rigorously and creatively. Second, you need to get the best out of everyone else – be fair, honest, empathetic; share information generously, recognize what you can learn from the experiences of others.

Hold those things in tension and you will reach for your success, want to ensure the success of others, and simultaneously avoid being a jerk­. The field of genetics/genomics has become so multi-disciplinary that throughout your career, you will need to develop many relationships – networks of colleagues. Hold yourself accountable for how you work and how you build and maintain relationships.

AJHG:  And for fun, tell us something about your life outside of the lab.

Andy: Outside of the lab, Paul is an avid cook and enjoys time in the kitchen. Loyal is a talented photographer and musician but currently spends most of his time chasing after his two young children. I spend much of my free time woodworking – both at home and as the carpenter on the restoration of an active second world war Liberty Ship and living museum, working alongside my teenage son. Collectively our labs (Goff and McCallion) enjoy almost anything that involves food, drink, our families, and a great laugh.

Andy McCallion, PhD; Loyal Goff, PhD; and Paul Hook, BS, study neurogenetics at the Johns Hopkins University McKusick-Nathans Institute of Genetic Medicine. Dr. McCallion, an ASHG member since 2001, served on the Society’s Program Committee from 2012-13 and as its Chair in 2014. Dr. Goff and Mr. Hook have been ASHG members since 2015.

 

 

Inside AJHG: A Chat with Tony Capra and Will Bush

Posted By: Sarah Ratzel, PhD, Science Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author(s) of a recently published paper. This month, we check in with John A. (Tony) Capra and Will Bush, to discuss their paper, “Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures.

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Tony Capra, PhD, left, and Will Bush, PhD, right

AJHG: What caused you to start working on this project?

Tony: The roots of this project go all the way back to when I was in graduate school. As a graduate student, I studied how quantifying evolutionary patterns in protein sequences and structures between species could help us understand their functions (e.g., Capra et al. 2009). Then, I transitioned to working on the genetics of recent human evolution and didn’t think much about proteins for several years. When I started my own lab, a colleague came to me with a question about the function of a protein-coding variant in a human protein. As lead author Mike Sivley and I mapped the evolutionary conservation of this variant and its 3D neighborhood across species, we realized that it was silly not to include the wealth of information about genetic variation within human populations in these analyses as well. Around the same time, my colleague Will Bush had a similar idea. Once we got together and implemented a pipeline to map a few variants into protein structures, there was nothing (except lots of debugging!) to stop us from doing it comprehensively. More than 4 million variants later, we had this paper.

Will: I have had a long fascination with structural biology, and have focused much of my work on genomic analyses that are informed in some way by the biological context where variation occurs. This project started for me when multiple studies were published using technologies that explicitly target coding variation, which point to protein-level thinking. Around this time, I met Tony with expertise in protein evolution, and this project felt like the perfect way to start a new collaboration.

AJHG: What about this paper most excites you?

Tony: This paper is a great example of how looking across fields can help solve hard problems. Once we had mapped protein-coding variants into 3D structures, we needed to find a way to quantify whether their spatial patterns exhibited evidence of constraint. After several failed attempts, we realized that this problem had a lot in common with questions that field ecologists commonly ask about the distribution of individuals across physical ranges. A bit of reading revealed the Ripley’s K framework for evaluating and comparing spatial distributions of observations. We had to adapt the methodology for our application, but making this connection to a problem in another field provided the foundation for our solution. I like that an approach from ecology helped us to re-establish a strong link between human genetics and structural biology.

Our results also illustrate why data sharing is so important. By putting two big publicly available databases together, we were able to learn something new about how genetic variants are constrained in 3D space. It would not have been possible without the efforts and foresight of the groups that collected and maintain protein structural data (the Protein Data Bank) and genetic variation data (gnoMAD, COSMIC, TCGA, and ClinVar). Thank you to all of them!

Will: Like Tony, I am excited about the potential of modeling genomic data in a totally different way! The field of geospatial analysis has grown dramatically over the last few years, so using Ripley’s K just scratches the surface of the potential approaches that could be applied in this context. Given all the data that is available for research, the idea of data integration has become quite popular, but there are often many methodological hurdles to combining data of different types or from different domains in a coherent way. I’m excited that our work contributes in this area, and I echo Tony’s thanks to all the wonderful resources that provided the data we used in this work.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Tony: This paper provides a framework that I believe will improve analysis strategies in both human genetics and structural biology. Both fields have seen substantial increases in the amount of data available over the past 15 years, and our work illustrates the potential to extract insight from the integration of patterns of human genetic variation with 3D structures. We have many new ideas about fully leveraging this combined point of view.

I hope that the human genetics community will recognize that structural biology has many powerful tools that can help us with variant interpretation. However, our results demonstrate that getting the full benefit of the structural perspective requires considering the complex 3D context of variants. This goes beyond the basic structural information, like secondary structure, that is often included in variant pathogenicity predictors.

We also think that we human geneticists have a lot to teach structural biologists, especially about the flexibility and dynamics of their structures. But that’s a topic for another paper!

Will: Beyond our key findings, I hope that this work will inspire other ways to think of the genome in 3D! Chromatin conformation studies are now producing spatial maps of DNA within the nucleus, and we know that these patterns influence gene expression.  Long non-coding RNAs fold into complex forms to achieve their functions – many possibilities exist!

AJHG: What advice do you have for trainees/young scientists?

Tony: Talk to diverse scientists (and non-scientists). This will help you make unexpected connections between fields. Much of the motivation for this project came out of the fact that my office happens to be on the same floor as the Vanderbilt Center for Structural Biology. Different fields have powerful datasets and methods that have direct relevance to important problems (like variant interpretation). The challenge is finding them and then figuring out how they fit together! It is much easier to be creative when you have a broad knowledge of what is state-of-the-art in different fields.

Will: Keep your work organized and persevere. Mike Sivley is a meticulous note-taker, so it was easy at any given moment to go back to prior results and put everything together. Taking good notes is also a great way to know what questions you are asking, and to push through until you have an answer. With any project, there is a time when multiple setbacks make you question the whole endeavor. Looking back over notes from an entire project is the best way to see how much you’ve learned in the process, and that can be a strong motivator to push forward.

AJHG: And for fun, tell us something about your life outside of the lab.

Tony: I secretly want to be a bartender. I suspect this is because I watched too many re-runs of Cheers when I was young. I also hate getting to work before noon.

Will: I intentionally schedule my meetings with Tony before noon, and I really love a good bourbon, especially from Tony’s bar.

Tony Capra, PhD, Assistant Professor at Vanderbilt University, has been an ASHG member since 2012. Will Bush, Assistant Professor at Case Western Reserve University, has been an ASHG member since 2005 and served on the Society’s Communications Committee from 2012-17.