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Archive - Oct 16, 2019


Researchers Develop Mouse Model Incorporating Human Gene (MAPT) Involved in Alzheimer’s Disease

In research that helps scientists better understand and explore treatments for diseases like Alzheimer’s, scientists have developed a line of mice in which the mouse version of the Alzheimer’s-associated MAPT gene has been fully replaced by the human version of the gene. In this new animal model, known as a full-gene-replacement model, the MAPT gene will function the same way it does in humans, allowing researchers to more accurately develop and evaluate genetic therapies. The research was presented on October 16 at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas (October 15-19). The presentation abstract is titled “Moving Human Genetics into the Mouse: Full Human Gene-Replacement Models.” Scientists have long studied human genes in mice and other animal models, usually by finding and manipulating the animal’s version of the human gene being studied, explained Michael Koob, PhD, Associate Professor at the University of Minnesota, who presented the work. “However, mice have different genes than people, and even if the gene’s function is the same, its sequence is different,” Dr. Koob said. For this reason, animal model work typically involves a great deal of trial and error, and it requires researchers to make assumptions about why and how a genetic change leads to the observed changes. In addition, drawing conclusions about the role of the human version of the gene in humans – and building on this knowledge by developing therapies – is difficult and prone to error, and the findings do not always translate.

Quantifying Hispanic and Latinx Populations' Interest in Genetic Research Participation

Researchers are increasingly prioritizing the need for diversity in genetics and genomics research. To help make such studies more inclusive, José G. Pérez-Ramos, MPH, and Timothy D.V. Dye, PhD, research scientists at the University of Rochester in New York. examined Hispanic and Latinx populations’ desire to participate in genomics research. Mr. Pérez-Ramos presented the findings on October 16 at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas (October 15-19). The presentation abstract is titled “Variation in Intention to Participate in Genetic Research Among Hispanic/Latinx Populations by Latin America Birth-Residency Concurrence: A Global Study. “We were interested in the determinants for people to participate in genetic research,” said Dr. Dye, principal investigator on the study. “Not only is representation in research important for accuracy of results, but it also helps improve distributional justice. If Hispanic and Latinx people are not represented, then there’s no possibility of them benefitting from all of the important genetics research that’s happening.” Mr. Pérez-Ramos and colleagues surveyed 1,718 individuals from 69 countries; among whom, 251 participants self-identified as Hispanic or Latin American and Caribbean (LAC). When measured as a single group, Hispanic and LAC people were as willing to participate in genomics research studies, and felt as positively about their impact, as other groups. However, when the participants of Hispanic and LAC ancestry were segmented further by country of birth and residence, there were noticeable differences in attitudes toward, and interest in, genetic research participation.

New Human Reference Genome Resources Help Capture Global Genetic Diversity

Scientists have assembled a set of genetic sequences that enable the reference genome to better reflect global genetic diversity. The new sequences improve the utility of the human reference genome, a touchstone resource for modern genetics and genomics research, and these sequences were presented at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas. The presentation was titled “Constructing a Reference Genome That Captures Global Genetic Diversity for Improved Interpretation of Whole Genome Sequencing Data,” and the abstract is available online at When the Human Genome Project was completed in 2003, its signature achievement was the human reference genome, a set of DNA sequences that serves as a structure and representative example of the complete set of human genes. For areas of the genome where there is little variation among different people, the reference genome is an important resource that has helped move forward efforts in gene sequencing, genome-wide association studies, and protein characterization. Because almost all genetic sequencing experiments rely on the human reference genome, there is a pressing need to improve the reference to better capture the diversity found in different human populations, explained Karen Wong (photo), BS, a graduate student in Professor Pui-Yan Kwok’s laboratory at the University of California, San Francisco (UCSF), who presented the research. A more representative reference would benefit scientists using the millions of existing sequencing datasets, as well as future sequencing studies.