We’re taking time to get to know the members of the GSA’s Early Career Scientist Committees. Join us to learn more about our early career scientist advocates.

Rupinder Kaur
Career Development Subcommittee
Pennsylvania State University

Research Interest

I am a cell and molecular biologist interested in exploring host-symbiont interactions with relevance to human health outcomes. Mosquito-borne diseases, especially dengue, have become an emerging global threat to mankind. The existing vector control strategies—such as diminishing mosquito breeding sites, insecticide use, chemical spraying, and personal protective measures—have been found ineffective and do not confer long-term protection. Moreover, risks surrounding climate change have created an urgency for alternative vector control strategies. The prospect of using symbiotic microorganisms to save millions of lives with positive human health outcomes is highly promising. The bacterium Wolbachia is a prime example, which is human- and environment-friendly and can play a significant role in controlling dengue and other mosquito-borne viruses on the ground. Wolbachia expresses two key traits in these control strategies: virus-blocking, in which Wolbachia reduces virus replication in the salivary glands of virus-transmitting mosquito females, and reproductive manipulation called cytoplasmic incompatibility (CI), during which embryos die when Wolbachia-infected males mate with uninfected females, thus crashing the mosquito population.

In my research, I’m digging deeper into the mechanism of CI to better grasp how Wolbachia bacteria influence the genes and pathways governing insect reproduction. Using Drosophila melanogaster and Aedes aegypti carrying Wolbachia, I identified that CI-causing genes disrupt an evolutionary-conserved process of histone-to-protamine transition during sperm development. This transition is crucial for maintaining male fertility. When embryos are fertilized by these abnormally developed sperm, their nuclei fail to divide properly and embryos ultimately die. I am further keen on understanding the intricacies of the flip side of CI, known as “rescue,” where female insects infected with Wolbachia can prevent embryonic death. My goal is to enhance methods utilizing these bacteria to control mosquito populations, thereby making them even more effective and sustainable in the fight against diseases.

As a PhD-trained scientist, you have many career options. What interests you the most?

As someone who loves diving into the unknown to uncover new things, I find being a scientist incredibly rewarding. I enjoy brainstorming new ideas, formulating hypotheses, and troubleshooting experiments to bring them to life. Even though science can be tough and challenging at times, those moments when everything clicks and years of hard work culminate in a breakthrough are truly amazing. Each discovery feels like finding a missing piece of a puzzle. At that point, more than just a career option, it becomes a passion that keeps me curious and eager to share what I learn with others in the scientific community.

Moreover, I recently explored the intricacies of grant writing, a crucial skill for securing essential research funding. I learned that grant writing is not just about acquiring resources; it’s about articulating the potential impact of my work on the scientific community and society at large. I acquired the skill of translating my scientific vision into actionable proposals, ensuring that the future research direction is not only intellectually stimulating but also socially relevant. It bridges the gap between innovative ideas and transformative research outcomes, reinforcing my commitment to making a meaningful difference in the world of science.

In addition to your research, how do you want to advance the scientific enterprise?

Science advances significantly when diverse fields intersect, sparking new and creative ideas. In addition to my research pursuits, my vision for advancing the scientific enterprise is firmly grounded in the principles of collaboration, outreach, and mentorship. I work towards creating an environment where scientists from different backgrounds can come together to create ideas that address scientific challenges. I have shared my research through seminar presentations with several universities, companies, and scientific organizations in the United States. By facilitating dialogue and knowledge exchange, I assisted them in developing specific assays tailored to their research programs.

I am actively engaged in initiatives that expand the horizons of STEM education and promote inclusivity within the scientific community. For instance, as a judge in the ENVISION research competition, I play a pivotal role in evaluating the innovative project proposals generated by women and genderqueer high school students. I provide valuable feedback and recognition, foster their passion for scientific inquiry, and encourage them to pursue careers in STEM fields. Furthermore, I participate in mentoring initiatives aimed at bridging the opportunity gap for students from disadvantaged backgrounds. Volunteering my time and expertise, I create research opportunities for these aspiring scientists by guiding them through the research process, helping them understand scientific articles, and assisting with formulating hypotheses for scientific experiments. I not only provide essential scientific guidance but also instill confidence and inspire a greater sense of possibility. By empowering young minds, recognizing and nurturing their talent, dismantling barriers, and fostering inclusivity, I am dedicated to creating a scientific community that reflects the diversity and potential of our world.

As a leader within the Genetics Society of America, what do you hope to accomplish?

As a member of GSA’s Early Career Leadership Program, I am committed to advancing the career growth of fellow GSA members. One of my primary objectives within this role is to establish a robust mentorship network. I aim to provide guidance, insight, and support by connecting early-career scientists with experienced mentors in their respective fields. By organizing symposiums, networking events, panel discussions, and virtual forums at conferences, I aim to facilitate interdisciplinary collaborations and encourage sharing of ideas and expertise to open doors to new opportunities. This collaborative environment will not only enrich the scientific discourse within GSA but also expose early-career scientists to diverse research areas, promoting a spirit of curiosity and innovation.

Further, I intend to organize targeted professional development workshops and training sessions. These sessions will cover a wide array of topics, including grant writing, science communication, leadership skills, and work-life balance. By providing access to these resources, I hope to equip early-career scientists with the skills and knowledge necessary for a successful and fulfilling career in genetics. Last, in line with my commitment to diversity and inclusivity, I will advocate for programs that specifically support underrepresented individuals within the GSA community. I aim to level the playing field and ensure that everyone, regardless of their background, has equal access to resources and opportunities for career growth. Through these initiatives, I hope to empower the next generation of geneticists, leaving a lasting legacy of mentorship, support, and inclusivity.

Previous leadership experience

1. Editorial Board Member, mSystems, American Society for Microbiology (2024-2027)
2. Early-career editorial board member, mBio, American Society for Microbiology (ASM) (2024-present)
3. Panelist in the Science Communication panel, How to have an accessible conference experience, The Allied Genetics Conference (2024)
4. Judge, Poster session at the One Health Microbiome Symposium, Penn State University, PA (2024)
5. Judge, Poster session at the Undergraduate Exhibition, Penn State University, PA (2024)
6. Elected member in ASM’s Future Leaders Mentoring Fellowship program (2023-present)
7. Member, Early Career Leadership Program, Genetics Society of America (2023-present)
8. Judge, ENVISION research competition for high school girls and genderqueer students (2022-present)
9. Mentor, Summer research program by Talaria Summer Institute, founded by the nonprofit organization ATHENA (2022-present)
10. Organized and moderated the virtual Career Exploration panel, the 64th Annual Drosophila Research Conference (2023)
11. Mentor to undergraduate and graduate students, technicians, and research staff in the lab
12. Active volunteer for national/international virtual and in-person science outreach programs

You can contact Rupinder via email at r.kaur at psu.edu, on Twitter, and on LinkedIn.

When it comes to the potential causes of autism spectrum disorder (ASD), it’s not just in your genes. Genomic variation beyond coding regions also plays a role, and researchers are looking more closely at short tandem repeats (STRs), a prominent source of genomic variability known for their high mutation rates. STRs are relatively understudied compared to single nucleotide variants (SNVs), the best-characterized genetic variants, and new research published by Goldberg et al. in the April issue of GENETICS explores the role of STRs in genomic evolution and the impact of parental age on de novo mutation (DNM) rates.

Historically, STR mutations were only thought to occur due to polymerase slippage during DNA replication and were therefore highly linked to paternal age. While the female germline does not replicate during the reproductive years, male germ cells continue to replicate from puberty onward, potentially leaving substantial room for error with increasing age. Indeed, a recent family study comparing children with ASD to their unaffected siblings found that STR DNMs were more common in the children with ASD.

Building on this work, Goldberg et al. studied almost 1,600 quads—families with two parents and two children, one of whom was diagnosed with ASD without prior family history—whose genomes were previously sequenced. For this new analysis, the authors performed additional filtering to account for variability in the specificity of STR genotype predictions, narrowing the starting set of de novo STR calls from 175,290 down to 56,925. They also performed additional sequencing on two of the families to help validate their approach.

When the authors analyzed DNMs at STR loci, they found that, while paternal age did play a strong role, male progenitor cells were not the sole source of mutation.

Their analysis instead highlighted a strong maternal age effect, pointing to the relevancy of a mother’s age at conception. Although there are several known hotspots for mutagenesis in the ovaries, Goldberg et al. observed maternal age effects beyond just these familiar loci, underscoring that quiescent cells—those in a state of reversible growth arrest—might also undergo DNA damage and possibly lead to mutations that contribute to developmental disorders.

Zooming in even further, nucleotide composition seemed to be significant in mothers but not fathers: the maternal age association was stronger at A/T STRs than at G/C-containing STRs. The demonstration that replication alone does not account for all STR mutations points toward quiescent cells of the human germline as a prime target for future research.

Elizabeth R. Everman, PhD
Assistant Professor, University of Oklahoma

As a young scientist carrying out her first independent research project, Elizabeth Everman discovered the empowering feeling of becoming a subject expert, as well as the addictive pull of solving real-world scientific mysteries. Now an Assistant Professor in the Department of Biology at the University of Oklahoma, Everman leads a research program that uses a combination of quantitative and evolutionary genetics approaches to study heavy metal stress resistance.

Dr. Everman has published much of her research around copper resistance and toxicity in Drosophila melanogaster in GENETICS and G3: Genes|Genomes|Genetics, and we spoke with her about her career and research.

How did you become interested in science?

As an undergraduate, I had the opportunity to develop and carry out an independent research project. My project examined invasion patterns of an invasive frog species on Hawai’i Island and was my first exposure to the fields of molecular and population genetics. My mentor at the time wasn’t a geneticist, so working on this project meant that I needed to find my own opportunities to learn and use molecular techniques, as well as conduct the analysis. It was the first time I realized I could become an “expert” on something, and that feeling of learning something new on my own that I could use to solve a real-life biological mystery was addictive and empowering.

What is your current specialty? What do you like most about it?

Toady, I study the genetic, physiological, and behavioral responses to heavy metal stress using a combination of population, quantitative, and evolutionary genetics approaches. This work is important to me because it has such wide-ranging implications and can shed light on how heavy metal pollution can influence ecosystem and human health.

Tell us a bit about your laboratory. What are your research goals and objectives?

In nature, organisms experience a wide range of stressors that influence their ability to reproduce, survive, and adapt over time. Our research focuses on the roles that genetic variation, phenotypic plasticity, and behavior play in response to anthropogenic sources of stress. Current areas of research include characterizing the genetic control of resistance to copper toxicity and dissecting the genetic relationship between physiological and behavioral responses to heavy metal stress.

We study the Drosophila melanogaster model system through a combination of large mapping populations and wild-collected populations to determine the genetic and evolutionary factors that influence physiological and behavioral copper stress resistance.

What impact do you hope your research will have? Can you provide any examples of practical applications?

As my lab continues to investigate the links between physiological and behavioral responses to metal stress in an evolutionary context, we hope to better understand how these traits are genetically controlled and linked. Heavy metal toxicity is particularly damaging to developing individuals and has been linked to neurodegenerative diseases in humans, and more basic research is needed to understand how individuals may be more or less susceptible to the most damaging effects of exposure. Our goal is to contribute to filling that basic research need.

How does your work fit into the overall literature in your field?

There is a lot of excellent research that examines how heavy metal pathways are coordinated and respond to stress, but much of this research has been carried out in single genotypes or in a relatively limited set of genotypes. In contrast, we are examining the genetic control of physiological and behavioral responses to heavy metal toxicity using large mapping panels or in flies collected from natural populations. My goal is to help broaden our current understanding of how the toxicity response works by examining these patterns in many genotypes and by incorporating the effects of evolutionary response.

Education and Training:

• Postdoctoral Fellow, Macdonald Lab, Molecular Biosciences, University of Kansas with Stuart J. Macdonald
• PhD in Biology, Kansas State University withTed J. Morgan
• BA in Biology, William Jewell College

“How do genes control physical, behavioral, and disease traits?” is a perennial question for geneticist Elaine Ostrander, Chief and Distinguished Senior Investigator of the Cancer Genetics and Comparative Genomics Branch at the National Human Genome Research Institute of the National Institutes of Health and Section Head of Comparative Genetics. Ostrander, who is known for her seminal discoveries in trait heritability in dogs and humans, tracked the history of dog breeds to address questions in morphology, behavior, and disease variation. She also mapped important cancer genes in canines and humans, advancing the knowledge of how complex diseases are inherited. 

Developing a canine genetic model from scratch

Ostrander started her scientific journey by investigating the relationship between the DNA structure and transcription in yeast during her PhD and postdoctoral years. Learning about the discovery of microsatellites steered her into mammalian research. “It became immediately clear that microsatellites were polymorphic in a population that they were useful for studying variation, but they were also stable enough to track inheritance of sections of DNA within a family. Suddenly, it became possible to make a genetic map of any mammal you cared about,” she recalls.

For Ostrander and Jasper Rine, that choice of mammal was a dog. While other scientists studying genetics were mapping genes in flies, worms, yeast, and humans, Ostrander, working in Jasper Rine’s research group at the University of California, Berkeley, began to construct a genetic map of the dog genome, with a long-term goal of using the map to find genes that distinguish breed appearance and behavior as well as genes associated with disease susceptibility. Continuing this work in her own research group at Fred Hutchinson Cancer Center, Ostrander created the first linkage maps in dogs in the early 90s. A decade later, her foundational work snowballed into a modern canine genetics project establishing dogs as a genetic model system. “Ostrander’s work built the stage and collected, in collaboration with several institutions, the first whole genome sequence of a domestic dog, the Boxer, in 2005. The subsequent decade was populated by an explosion of publications and genome developments led by her research group and collaborators,” says Bridgett vonHoldt, Associate Professor of Ecology and Evolutionary Biology at Princeton University and a long-time collaborator of Ostrander.

According to Leonid Kruglyak, Professor of Human Genetics and Biological Chemistry at the University of California, Los Angeles and Howard Hughes Medical Institute Investigator who nominated Ostrander for this honor, “Ostrander is without a doubt the leader in the field of canine genetics and genomics.” Leading an international consortium, Ostrander helped generate a global public repository consisting of genomes from 2,000 individual canids—including 1,611 dogs of known breeds (321 breeds), 309 village dogs, 63 wolves, and 4 coyotes—to address questions surrounding domestication, behavior, morphology, and disease susceptibility.

“Dogs were an obvious choice because the dog breed structure makes it easier to find genes responsible for traits. To be a member of a breed, parents and grandparents must be members of the same breed, making each breed a closed population,” explains Ostrander. Tapping into breed structure, where breed appearance and behavior remain intact generation after generation, Ostrander’s group identified genes responsible for the remarkable differences in size and shape between breeds. Her work showed that a single allele of IGF-1 is a major determinant of size in small breeds and that coat variation is determined by variants in just three genes. By identifying the time when variants first showed up in ancient DNA, her work takes a holistic view of morphology and behavior across different canid species.

Studying man’s best friend to understand humans

In addition to genes in dogs, Ostrander extensively studied human cancer genes in her laboratory at the Fred Hutchinson Cancer Research Center, focusing on human breast and prostate cancer. Her group was one of the first to describe a role for BRCA1 and BRCA2 mutations in women from the general population at risk for breast and ovarian cancer. Her expertise in dog genetics dovetailed well with this work, as she ended up discovering cancer-causing DNA variants in both humans and dogs. “Most things that dogs get, humans also get—they get the same cancers and diabetes; they also get many of the same neuromuscular, kidney and heart diseases. Some breeds are at an extraordinary risk for certain types of cancer. For instance, a Scottish Terrier is at 20-fold higher risk of getting bladder cancer than any mixed breed dog. Therefore, the underlying genetics must be really strong and profound,” explains Ostrander.

In an effort to explore the history between the dog and cancer genomes, her group used a multi-omics approach that was largely unexplored in the canine model to create the largest catalog of canine whole-genome, transcriptome, and chromatin immunoprecipitation sequencing. Such resources allow scientists today to identify common cancer-causing alleles in dog breeds and link them to human malignancies. For example, Ostrander identified two regions in the canine genome that explain a risk for developing a lethal histiocytic sarcoma, which also occurs in humans. By understanding genes in these risk regions in cancer-related pathways, her work empowered new diagnostics and therapeutic strategies for human cancers.

Ostrander’s group also studies aging and survival-related genes. “Big dogs do not live as long as little dogs. We would like to know why that happens,” she says. To solve this puzzle, Ostrander collaborated with international researchers looking for dog samples in the most unlikely places. “We are studying DNA samples from over 400 dogs, sampled by collaborators, from the exclusion zone around the Chernobyl nuclear power plant. We are looking for changes in DNA that dogs have accumulated over 15 generations which allows them to survive in this radioactive environment,” says Ostrander.  

A champion in all walks of life

Ostrander has contributed greatly to the scientific community through making her cutting-edge research in dog genetics accessible to the general public. A big proponent of community outreach, she takes pride in regularly engaging with dog groups, breed clubs, professional dog trainers’ associations, and families to help answer questions about behavior and diseases.

In addition to being a pioneer in science, Ostrander is also at the top of her game in powerlifting. She is a nationally ranked powerlifter, competing as a Masters lifter for five years. With a growing accumulation of first- and second-place medals, Ostrander looks forward to a time when she trains Masters lifters herself.  

Join us in congratulating Elaine Ostrander, who received the Edward Novitski Prize at The Allied Genetics Conference 2024 in Metro Washington, DC.

2024 GSA Awards Seminar Series

In a recent seminar, Elaine Ostrander discussed how domestic dogs are among the most variable mammalian land-based species on earth and the genetic underpinnings of that variation, including breed-associated morphology, behavior, and disease susceptibility. Watch the recording here.

Sejal Davla, PhD, is a neuroscientist, science writer, and data scientist with expertise in research in a variety of life sciences. She has more than a decade of experience studying the brain by using cutting-edge methodologies in microscopy, molecular biology, genetics, and biochemistry, and is a motivated storyteller and science communicator.

Hongyu Zhao
Senior Editor, Statistical Genetics and Genomics

Hongyu Zhao is the Ira V. Hiscock Professor of Biostatistics, Professor of Genetics, and Professor of Statistics and Data Science at Yale University. He received his BS in Probability and Statistics from Peking University in 1990 and PhD in Statistics from the University of California, Berkeley in 1995. His research interests are the development and application of statistical methods in molecular biology, genetics, therapeutics, and precision medicine with a focus on genome-wide association studies, biobank analysis, and single cell analysis. He is an elected fellow of the American Association for the Advancement of Science, the American Statistical Association, the Institute of Mathematical Statistics, and Connecticut Academy of Science and Engineering. He received the Mortimer Spiegelman Award for a top statistician in health statistics by the American Public Health Association and Pao-Lu Hsu Prize by the International Chinese Statistical Association.

Why publish in GENETICS?

We’re taking time to get to know the members of the GSA’s Early Career Scientist Committees. Join us to learn more about our early career scientist advocates.

Jessie MacAlpine
Communication and Outreach Subcommittee
University of Toronto

Research Interest

I am passionate about using molecular genetics to understand fundamental biology. During my undergraduate studies at the University of Toronto, I completed a specialist program in the Department of Molecular Genetics and decided to stay for my graduate training. I was fortunate to join the laboratory of Leah Cowen, where I was introduced to the fascinating, complex, and often overlooked world of human fungal pathogens. Throughout my undergraduate and graduate training, I was able to use functional genomics to identify genes important for the virulence of the human fungal pathogen, C. albicans. During my PhD, I dissected the interaction between Lactobacillus bacteria and C. albicans to understand how commensal bacteria can alter fungal virulence and disease. This work identified a small molecule secreted by Lactobacillus that acts against a key C. albicans virulence trait, establishing a novel strategy to thwart fungal disease.

Currently, I am transitioning to a position as a postdoctoral fellow at the National Institute of Allergy and Infectious Disease in the laboratory of Michail Lionakis. At the NIAID, I will extend my studies of human fungal pathogens to gain training in fungal immunology and human genetics.

Overall, my research interests lie in fungal pathogenesis, specifically why certain fungi, like C. albicans, are specialized members of the mucosal microbiota while other ubiquitous environmental fungi cause devastating disease in immunocompromised individuals. With a limited arsenal of antifungal therapeutics and the rising threat of antifungal resistance, I plan to continue to use molecular genetics to understand the interactions between fungi and their human hosts. The goal is to better understand fungal pathogenesis and identify potential therapeutic targets in both fungi and humans to combat fungal disease.  

As a PhD-trained scientist, you have many career options. What interests you the most?

For as long as I can remember, I’ve wanted to be a scientist: to be able to go into the lab, ask tough questions, and use experiments to try to further our understanding of fundamental biology. Throughout my formal education, I focused on pursuing a career as a Principal Investigator at a research-intensive institution. I am passionate about both education and research, so I am very drawn to the fact that PIs can teach classes, mentor trainees, and continue to drive a competitive research program as part of their career. Throughout my scientific training, I’ve been fortunate to work with incredible mentors and supervisors, including Leah Cowen and Teresa O’Meara, who have demonstrated what can be accomplished as a PI.

My mom and sister both recently received advanced degrees in education, so our home is always filled with lively discussions of teaching philosophies and curriculum development. I am very passionate about mentoring the next generation of scientists, and I want to pursue a career where I can continuously mentor, support, and teach students, especially in genetics-related fields. As a PI, I hope to be able to use my future lab to mentor students and continue to ask fundamental biological questions related to pathogenesis and virulence.

In addition to your research, how do you want to advance the scientific enterprise?

Throughout my scientific training, I have been passionate about science communication and outreach. In particular, I am deeply dedicated to ensuring all children can picture themselves as scientists, encouraging youth to pursue science. My passion for youth in STEM originates from my early experiences in the Canadian science fair program. Although neither of my parents are scientists, the science fair exposed me to research at a young age. These formative experiences demonstrated to me what it is like to pursue science as a career much more effectively than my elementary and high school classes.

For the past ten years, I have been a member of the Youth Science Canada Executive Committee, which organizes the annual Canada-Wide Science Fair (CWSF). In this role, I help to organize and run CWSF, which takes place in a new Canadian city each year and sees participation from approximately 500 secondary school students from every corner of Canada. Beyond these organizational efforts, since 2016, I have also helped to write and act in a children’s television show on the Canadian network TVOKids. Targeted to young learners, Blynk and Aazoo features a child asking a common question (e.g., How can I stay up all night? How can I make my vegetables taste better?) and includes an in-depth answer from a scientist. Additionally, I am a freelance journalist with Engineering.com, where I cover news related to computational biology, AI/ML, and cloud computing.

Through all these endeavors, my goal is to continue to engage the public, specifically youth, in the scientific community. I firmly believe that curiosity is a core tenet of being human. Where classical education seems to frequently fail to portray the exciting pursuit of scientific problems, I aim to use my time to ensure everyone knows they can ask complex questions and explore their curiosity. This also relates to my firm commitment to support diverse and inclusive spaces within the scientific community, whether at the science fair, in the lab, or within professional societies like GSA. Because science is a fundamental part of being human, no one should ever be excluded from pursuing it.

As a leader within the Genetics Society of America, what do you hope to accomplish?

I joined GSA’s ECLP program to join a community of like-minded scientists dedicated to creating an inclusive, supportive, and diverse space for researchers to pursue science. As a Co-Chair of the Communication and Outreach Subcommittee, I hope to expand GSA’s commitment to engage broad audiences with the genetics community. I am particularly excited to expand the subcommittee’s social media presence to engage more non-technical audience members with the field of genetics and its impact on our everyday lives. We are in the process of launching a dedicated Instagram presence within the GSA account. In addition to this initiative, I am eager to support the subcommittee’s outreach efforts and encourage our members to develop their communication skills and conduct projects related to their passions.

Beyond my work within the subcommittee, I am also excited to be a part of the ECLP to grow my professional network and use the incredible resources offered by GSA to further my own leadership, communication, and research skills.

Previous leadership experience

Foraging for Fungi Walks, Royal Canadian Institute of Science (2022-Present)

Foundational Genetic Approaches Teaching Assistant, University of Toronto (2022)

Molecular Genetics Teaching Assistant, University of Toronto (2021-2023)

Girls SySTEM Mentor (2021-2022)

Adventures in Science Mentor, University of Toronto (2020-2022)

Math and Science Tutor-Mentor, Tutorbright Toronto (2018-2020)

Board Member, Partners in Research (2016-2019)

Judging Division Head, Thames Valley Science and Engineering Fair (2014-2019)

Executive Committee-Youth Science Canada (2013-Present)

We’re taking time to get to know the members of the GSA’s Early Career Scientist Committees. Join us to learn more about our early career scientist advocates.

Hassan Bukhari
Multimedia Subcommittee
Brigham and Women’s Hospital/Harvard Medical School

Research Interest

My research focuses on unraveling the intricate relationship between DNA damage and the progression of aging-associated neurodegenerative disorders, specifically conditions like Alzheimer’s disease. Pathological hallmarks of Alzheimer’s disease are protein aggregates called amyloid plaques and neurofibrillary tangles in the brain cells. The amyloid precursor protein contributes to amyloid plaques, and tau aggregation leads to neurofibrillary tangles. Both the amyloid precursor protein and tau protein contribute to the DNA repair pathway, but the underlying mechanisms remain largely unexplored.

The universal truth is that all organisms encounter DNA damage due to various assaults—environmental toxins, UV radiation, metabolic byproducts like free radicals, and more. Cells have, over time, evolved sophisticated mechanisms to repair DNA damage by relying on cell division and repair pathways. The challenge arises with the neurons that live for decades and are incapable of cell division to repair DNA damage. In Alzheimer’s disease, DNA damage further accumulates because essential neuronal proteins, such as the amyloid precursor and tau proteins, can’t perform their role due to pathogenic mutations or alteration. However, details of these processes remain understudied. 

In the course of my PhD, I have delved into the role of the amyloid precursor protein in DNA repair, revealing the presence of toxic nuclear aggregates that disrupt this repair process in human Alzheimer’s disease. During my postdoctoral endeavors, I have attempted to uncover the role of tau protein—a key contributor to Alzheimer’s second pathological hallmark—in DNA-damage repair. Through innovative CRISPR-Cas9 gene editing techniques, I engineered a novel Drosophila model of Alzheimer’s disease, demonstrating the influence of tau protein on DNA repair.

My future research aspirations are two-fold: to elucidate the shared pathological mechanisms underlying decreased DNA repair in brain cells and to identify novel tools or compounds that can enhance DNA repair, paving the way for potential therapeutics against neurodegenerative disorders which lack effective treatments.

As a PhD-trained scientist, you have many career options. What interests you the most? 

I focus on orchestrating teams of qualified researchers and harnessing state-of-the-art technologies to unravel the complexities of some of science’s most formidable inquiries. These questions not only help expand human scientific knowledge but also have direct, transformational implications on the lives of countless individuals.

My career trajectory aligns with researching the pivotal role of DNA repair in the genesis of Alzheimer’s disease and associated disorders. DNA damage emerges as a potential early harbinger of neurodegeneration, holding the promise of ushering in scientific revelations and economic advancements. The pursuit of therapeutics for neurodegeneration extends beyond merely prolonging human lifespans; it alleviates the financial and emotional burdens shouldered by affected families.

The evolutionary conservation of these pathways further drives my interest in the nexus between DNA repair and disease pathogenesis. For example, during my postdoctoral endeavors, I engineered a novel disease model by introducing a human tau pathogenic mutation through CRISPR knock-in with Drosophila tau. The brain of this novel disease model displays significant anomalies, including DNA damage, substantiating the role of tau in controlling DNA damage and its significance in brain health.

Moving forward, I anticipate unraveling the mechanisms through which alterations in conserved signaling pathways culminate in neurodegeneration within the disease model brain. This aspiration can heavily impact novel therapeutic strategies, initiating transformative breakthroughs for a wide array of disease treatments.

In addition to your research, how do you want to advance the scientific enterprise? 

I aspire to bridge the gap between scientific advancements and the broader public. The rapid strides in scientific understanding, particularly in realms like artificial intelligence, have propelled us into an era of unprecedented progress. We now generate an overwhelming volume of information, a feat previously inconceivable.

In light of this information explosion, a pressing need emerges: to distill and convey complex scientific concepts across multimedia platforms, catering to both scientific and non-scientific audiences. The significance of this endeavor becomes evident with instances like the COVID-19 pandemic, where misunderstandings around mask utility, vaccines, and disease mitigation underscore the critical role of scientific communication through multimedia channels. Similarly, the persistence of climate change denial, pervasive among non-scientific and even some scientific circles, underlies the urgency for effective communication.

My vision involves sharing scientific insights via engaging podcasts, YouTube channels, and social media platforms. This approach empowers the wider public to access and appreciate the latest discoveries. Furthermore, my commitment extends to nurturing the next generation of scientists, equipping them with the knowledge and tools to fuel future breakthroughs and confront emerging challenges.

My role as a co-chair in the Multimedia Subcommittee of the ECLP aligns with my forward-looking objectives. By illuminating topics that impact not only individual lives but also the survival of our species on this planet, we pave the way for collective well-being and prosperity. Through informed awareness, we can collectively forge healthier, more prosperous lives for all.

As a leader within the Genetics Society of America, what do you hope to accomplish? 

Having lived and trained in three countries, I’ve been fortunate to immerse myself in diverse cultural and educational environments. Throughout my bachelor’s studies, I hosted a university radio show and helped fellow students achieve academic excellence and navigate their career paths. My multifaceted background and distinctive viewpoint allow me to view challenges and solutions through various lenses. As a leader within the Genetics Society of America, I’m enthusiastic about spearheading, advancing, and enhancing the ECLP’s Genetics in Your World podcast.

We aim to spotlight pioneering genetics research featured in the GSA Journals. This initiative seeks to broaden awareness of state-of-the-art genetic advancements, catering to scientific and non-scientific communities.

I aspire to foster a culture of inclusivity within my sub-committee. By harnessing our collective strengths and embracing diverse perspectives, we cultivate a learning-rich environment where mutual growth is the norm. I firmly believe that nurturing equal participation among sub-committee members capitalizes on our distinct talents and propels each individual toward their fullest potential.

Previous leadership experience

Co-director, Mentoring Circle Program at Brigham and Women’s Hospital, Harvard Medical School

Mentor, Mentoring Circle Program at Brigham and Women’s Hospital, Harvard Medical School

Province Coordinator, National Academy of Young Scientists, Pakistan

In 2022, GSA’s Board of Directors launched an audit to review the five major awards conferred by the Society. Today, we are thrilled to announce the recipients of the reimagined GSA Awards, including the new Genetics Society of America Early Career Medal.

The scientists honored this year are recognized by their peers for their outstanding contributions to research and education and their distinguished service in the field of genetics. They will be presented with their awards at The Allied Genetics Conference 2024 taking place March 6-10, 2024, in Metro Washington, DC. Throughout the rest of the year, a series of profiles published in Genes to Genomes and virtual awards seminars will provide more insight into their inspiring careers.

The 2024 awardees are:

Thomas Hunt Morgan Medal
for lifetime contributions to the field of genetics

Paul Sternberg
California Institute of Technology

Sternberg is recognized for far-reaching contributions to the fields of genetics, developmental biology, evolution, neuroscience, and disease through the use of C. elegans as an experimental system. Sternberg is a central figure in the development of tools like WormBase, the Alliance of Genome Resources, and the Gene Ontology Consortium, as well as a founding member of microPublication Biology. This work serves as evidence of his lifelong commitment to the open sharing of data across biomedical research.

Genetics Society of America Medal
for outstanding contributions to the field of genetics 

Luciano Marraffini
Rockefeller University, Howard Hughes Medical Institute

Marraffini‘s work unraveling the molecular mechanisms of the CRISPR-Cas immune response is a remarkable feat that will be long recognized as a key piece of the paradigm-shifting introduction of CRISPR-based editing into biomedical research. Additionally, Marrafini’s mentorship of PhD students and postdocs and the appreciation demonstrated by mentees speaks to an invaluable investment in the next generation of scientists—and the future of genetics research.

Genetics Society of America Early Career Medal
for outstanding contributions to the field of genetics 

Ofer Rog
University of Utah

Rog is recognized for work visualizing meiotic exchange between sisters, exploring synaptonemal complex proteins, and tracking single molecules. Additionally, Rog’s efforts to recruit and maintain a diverse student body at the University of Utah and support LGBTQ+ students are commendable and an inspiration to many in the field.

Edward Novitski Prize
for extraordinary creativity and intellectual ingenuity in genetics research

Elaine Ostrander
National Human Genome Research Institute, NIH

Ostrander is recognized for work developing the domestic dog as an experimental system for solving fundamental biological problems and identifying genetic sequences of relevance to human health and disease. Including work on disease and behavioral health, Ostrander has shown a dedication to creative methods for understanding canine genetics and the value of translating research organisms to human genetics.

George W. Beadle Award
for outstanding contributions to the community of genetics researchers

Deborah Andrew
Johns Hopkins University

Andrew is recognized for contributions to student education at Johns Hopkins, service to the Drosophila community through the Fly Board and the Annual Drosophila Research Conference, and acting in an key role as Associate Director of Faculty Development at Johns Hopkins. Andrew’s previous and ongoing efforts to organize Drosophila researchers, teach and mentor scientists of all levels, and build a diverse and inclusive scientific enterprise are exceptional.

Elizabeth W. Jones Award
for Excellence in Education

Build-a-Genome*
Led by Jef Boeke
New York University

Build-a-Genome, led by Boeke, is a remarkable example of making the most of minimal resources in the service of creating meaningful and far-reaching educational opportunities. Its impact on coursetakers and facilitators is significant, and Build-a-Genome’s dissemination primarily to faculty from undergraduate institutions and underrepresented groups serves to broaden participation in genetics research—an important step as we work to build a more inclusive field.

* Build-a-Genome team members include: Jessica Dymond, In-Q-Tel; Lisa Z. Scheifele, Loyola University Maryland; Eric Cooper, Hartwick College; Robert Newman, North Carolina Agricultural and Technical State University; Franziska Sandmeier, Colorado State University, Pueblo; Yu (Jeremy) Zhao, NYU Langone Health; Stephanie Lauer, St. Thomas Aquinas College; Raquel Ordoñez, NYU Langone Health

For more information on the GSA Awards and past recipients, visit genetics-gsa.org/awards/. The Genetics Society of America serves an international community of more than 5,000 scientists who use genetics to make new discoveries and improve lives. GSA advances the field through conferences, the journals GENETICS and G3: Genes|Genomes|Genetics, advocacy, professional development programs, and more.

The Victoria Finnerty Travel Award supports conference-attendance costs for undergraduate GSA members who presented research at the Annual Drosophila Research Conference. #Dros24 will be held in conjunction with other model organism meetings at TAGC 2024 in the Washington, DC, metro area and online from March 6–10, 2024.

Victoria Finnerty, who died in February 2011, was a long-time member of the Genetics Society of America and served the Drosophila community and the genetics community at large in many capacities. A wonderful geneticist, Vickie’s ground-breaking work as a graduate student used high-resolution recombination analysis to dissect gene structure. This set the stage for a 35-year career in which she excelled as a gifted teacher as well as research scientist. Vickie was also a wise and compassionate mentor and teacher for whom interactions with her students was a constant joy. She constantly sought new ways to engage undergraduates in their genetics courses and in research; this travel fellowship fund continues Vickie’s stellar example.

An Bui, University of Houston
My research is to determine if brat brain tumor genes in Drosophila melanogaster flies play a role in controlling transposable elements, which can cause sterility if left uncontrolled.

Miraz Sadi, University of Rochester
I am interested in centromere evolution in Drosophila.

Makayla Gomperts, University of Evansville
I am interested in studying cell fate during egg development in Drosophila melanogaster.

Maria Jose Orozco Fuentes, Lake Forest College
I study the role of a subunit of the ER-membrane protein complex (EMC) in glial cells during development and adulthood.

Ahad Shabazz-Henry, Kean University
I am investigating the molecular mechanisms that regulate animal development and fertility in Drosophila.

Kayla Ly, University of California, Irvine
My research aims to discover novel genes contributing to transposable element-mediated heterochromatin formation in Drosophila melanogaster.

Kinfe Bankole, University of Florida
I am exploring the secrets hidden within sex and species specific alternative splicing of transcripts.

Lucy Grossman, University of North Carolina, Chapel Hill
I study how the proteins that package DNA are recruited to and deposited at their target locations.

Lindsay Swain, East Carolina University
My research uses fruit flies as a model organism to study how a steroid hormone influences cell-to-cell communication in the ovary.

William Outlaw, East Carolina University
My research uses fruit flies as a model organism to study how nucleocytoplasmic trafficking facilitates the maintenance of ovarian germline stem cells.

Sarah Clark, University of Richmond
I study the effects of the acetyltransferase Tip60 protein on disease pathology in a Drosophila model of Machado-Joseph disease/Spinocerebellar Ataxia Type 3.

Sofia Karter Lopez, University of Toronto
In my project I study the mechanisms by which cells in the Drosophila embryo move together to close wounds and how protein recycling contributes to the cytoskeletal rearrangements that are required during wound healing.

In the Paths to Science Policy series, we talk to individuals who have a passion for science policy and are active in advocacy through their various roles and careers. The series aims to inform and guide early career scientists interested in science policy. This series is brought to you by the GSA Early Career Scientist Policy and Advocacy Subcommittee.

Today, as part of the ECLP Policy and Advocacy Interview Series, I’m with Maria Elena Bottazzi, current Senior Associate Dean of the National School of Tropical Medicine at Baylor College of Medicine.

Could you tell us a little bit more about your career path and your current work at Baylor?

I am an Italian-born, Honduran-raised microbiologist. I received a microbiology and clinical chemistry degree from the National Autonomous University of Honduras. In Honduras, as is the case with most Latin American countries and other low-middle income settings, training at the bachelor’s-in-science level rarely involves experience within molecular biology. So, in order to further understand the molecular and biochemical basis of host-pathogen interactions, I moved to the United States to complete my PhD at the University of Florida, [studying the] molecular basis of pathogenic disease. As I was completing my postdoctoral work at University of Pennsylvania, I realized that my true calling was using all I have learned in the biomedical field to create solutions and develop new interventions for tropical and emerging diseases. So, I decided to enroll in a Master of Business Administration program to hone my business management and organizational skills. Shortly after, I met Peter Hotez (the current Dean of the National School of Tropical Medicine) and realized we were both interested in the same goal: developing global health technologies and translating them from the academic laboratory to the world. We have since worked together with an emphasis on vaccine development and accessibility for developing countries and for diseases that are typically ignored.

You have worked with vaccines and neglected tropical diseases for a while. What has been your own level of involvement in the policy area around these issues? Do you have any advice for young scientists interested in science policy?   

I have been around tropical diseases my whole life. Growing up in Honduras and studying microbiology there, I have always been observing the devastating effects they have on people. But to be fair, my interest peaked around the time I was finishing my higher education. This coincided with the turn of the century, when there was a re-emerging interest in global and tropical health. As I started my professional career, I saw all these policy frameworks being developed around poverty, hunger, education, and other health factors. Yet, as I moved forward with my scientific path, we started seeing how several diseases were being ignored, especially those that affected only tropical countries. I found myself part of a drive towards open science and creating partnerships and collaborations that would make research in tropical diseases accessible and transparent. Very early on, Peter Hotez and I realized that we needed to go beyond the bench: we had to be capable of developing robust products, like vaccines, that would be able to directly help people. Besides our scientific language, we also had to learn policy, business, ethics, and legal languages to serve the community in the best way possible. As scientists, it is difficult to be properly trained on these other dimensions: you are usually focused on the science and presentation skills. Peter Hotez was a great role model for me. He was really interested in the behind-the-scenes of policy making, so I ended up tagging along for the ride. Eventually, I realized I was very interested in scientific policy, so I applied to and got selected for a fellowship with the Leshner Leadership Institute in the American Association for the Advancement of Science. There I got formal training on how to integrate academic sciences and business practices. It is not all about the formal training, however. During my personal time, I also took several courses and met with different people to learn more about pharmaceutical economics, licensing and intellectual property laws, and even how to write legal contracts. This is something I recommend to every early career scientist: make sure that you take advantage of all the resources out there. Branch out from your bench, and learn about things that will help you engage the community and your own science in a much more efficient way! In the real world, you are always surrounded by so many more things than just your science. Always try a holistic approach when it comes to preparing your own career path.

You and Peter Hotez developed a COVID vaccine. Can you tell us more about it and how any regulations impacted your work?

As Peter and I started working on neglected tropical disease vaccine programs, we realized a pattern: funding for these programs dramatically increases when the disease emerges, but then it rapidly decreases as other priorities arise. We decided to take advantage of all the knowledge created during the “golden years” of funding for these rare diseases, and in 2011, we were awarded a grant to tackle a Severe Acute Respiratory Syndrome (SARS) vaccine in case of future outbreaks. Between 2011–2014, we were incredibly successful: we developed and manufactured a candidate for a SARS vaccine and were close to moving into human trials. Then, the 2015 Middle Eastern Respiratory Syndrome (MERS) outbreak happened; the NIH asked us to use the rest of the funding to develop a MERS vaccine instead of moving the SARS vaccine into toxicology trials. By the end of 2016, we had already come up with a prototype vaccine for SARS and for MERS as well; we were ready to start a pathway towards the clinic for these vaccines. Then, suddenly, coronaviruses were not that important anymore; our direct funding for these vaccines stopped as the agencies believed they had other diseases to deal with at that point. Internally, we decided to keep the program alive with some intramural money so all the scientific knowledge wouldn’t be wasted.  

To our surprise, the 2020 pandemic was being caused by a coronavirus family virus with a sequence similar to the SARS virus: we were ready to hit the ground running! Instead of 4 years, it only took us a few months to figure out the COVID-19 prototype vaccine. Since the world was in a state of urgency, we decided to not patent our COVID-19 vaccine technology and offered it as open source for manufacturing to different companies. Sadly, no company in the US or Europe was interested. This was mainly due to both scientific and policy misunderstandings. Our vaccine was based on the spike protein’s receptor binding domain and was produced in yeast, so it was easily scalable. At the time, both pharmaceutical companies and policy makers worked under the false assumption that the whole spike protein must be used, and they would rather fund new technologies such as mRNA-based vaccines because of their perceived speed to develop although they were not nearly as scalable at that time. Although we had pre-clinical trial data proving the high efficiency of our vaccine prototype, big pharmaceutical companies had no interest in it due to both policy and scientific mishaps. Eventually, we received interest from companies in India and Indonesia since they were having a hard time getting access to the mRNA vaccine technologies. These manufacturers shared our same vision to make scalable, affordable, and equitable vaccines for the public. We now have administered more than 100 million doses, making our vaccine one of the most accessible ones out there. Thankfully, we were able to surpass initial hurdles and make the vaccine accessible to those who needed it the most.

As a vaccine expert, do you think we are prepared for the next pandemic? What do you think needs to change regarding current vaccine policies?

One of the main issues during this pandemic was how countries with lots of resources decided to over-stock vaccine doses and disregard the needs of other countries. Nationalism plays a big part in this; everyone wants what is best for their own people first. Yet, as we clearly saw with the failed response to this pandemic, this is not the correct way to go about public health. Even if you vaccinate all your citizens, you will still suffer the downsides of a pandemic if your neighbors and trade partners cannot do the same. We learned the hard way that to get completely out of a pandemic, we need the whole world to work together and help each other.  

I think we learned a lot during this pandemic that will be useful in the future. For example, regulators around the world realized that many steps of the process could be done in parallel instead of sequentially, so we now know that the pipeline to create and manufacture vaccines, or other drugs, can be shorter and more efficient. Yet, we still face a terrible monster: inequality. With high-income countries overstocking vaccine doses, many low-income countries were left without the opportunity to order vaccines. Even after some countries started donating doses for children and senior adults, many low-income countries had their whole health system collapse due to how long it took to access vaccines. In the long run, this deeply affected high-income countries since the world was not able to truly go “back to normal” until most countries had regained control over their health systems. By not making vaccines equitable, we kind of shot ourselves in the foot and prolonged the pandemic far beyond what it could have been if we had made vaccines readily accessible to everyone since the beginning. We learned some lessons from this pandemic; however, we still have much work to do if we want to be prepared for another one. It is not only vaccine accessibility that needs to be more equitable but also vaccine research and regulation. There is a common belief that anything that is manufactured in middle- or low-income countries is, by default, of poor or dubious quality. If we want to be ready, we need to trash that old mentality. Worldwide regulators, like the World Health Organization, should work harder to improve vaccine research, manufacturing, and regulatory enterprises in low-income countries. With COVID, we clearly saw how economic power bought you a ticket to the discussion table. We need to move forward and show that you do not need economic power to have a voice regarding the world’s public health.

Thanks for being with us today. Do you have any final words for prospective scientists in developing countries who think their dream of being a researcher is far-fetched?

No dream is too far-fetched. I would like to tell them that, although it can be hard, they need to leave the impostor syndrome behind. It does not matter if you graduate from your country’s national university or from Harvard. You don’t need a prestigious degree to do great science. You need dedication, passion, courage, and consistency. You have been exposed to very different life stories than the average scientist. You need to take advantage of that cultural intelligence and let it propel you to success. I believe those of us who come from low-income countries are well suited for science; we are accustomed to surviving crisis after crisis, and our resilience is beyond that of anyone else. Our culture, our language, and all our lived experiences are strengths that prepare us for a bright future. Be proud of who you are and where you come from and leverage that to increase your skills. Do a self-evaluation, identify your weak spots, and use all that resilience to move forward. You have all the potential to become successful scientists. Never stop working hard and aiming for the top!