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Summary<\/p>\n
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- Researchers from the John P. Hussman Institute for Human Genomics presented research findings illuminating the complex biology\u00a0of Alzheimer\u2019s disease at the recent Alzheimer\u2019s Disease\/Parkinson\u2019s Disease annual meeting.<\/li>\n
- The Miller School\u2019s Dr. James Galvin is building the Brain Health Index, a measurement which takes into account six factors that can make a person\u2019s brain healthier.<\/li>\n
- A key theme\u00a0among Miller School researcher presentations was\u00a0the\u00a0role of genetic ancestry\u00a0in\u00a0modifying\u00a0Alzheimer\u2019s disease\u00a0risk\u00a0and pathology.<\/li>\n<\/ul>\n
University of Miami Miller School of Medicine researchers from the John P. Hussman Institute for Human Genomics<\/a> and\u00a0the Comprehensive Center for Brain Health<\/a>\u00a0were a major presence at the recent Alzheimer\u2019s Disease\/Parkinson\u2019s Disease annual meeting.\u00a0Several scientists presented research findings illuminating the complex biology\u00a0of Alzheimer\u2019s disease.<\/p>\n
Researchers from the Miller School have been a regular presence at the annual conference.<\/p>\n
\u201cThe meeting is a great venue to present our science to a large, international audience, but also to make connections, have meetings and network. We\u2019ve been able to develop a number of collaborations with other researchers and with industry to help advance our research goals,\u201d said\u00a0James Galvin\u00a0M.D., M.P.H.,<\/a> professor of neurology and chief of the Division of Cognitive Neurology at the Miller School and director of\u00a0the\u00a0Comprehensive Center for Brain Health.<\/p>\n
The presentations focused on genetics and the ways environment can influence an individual\u2019s risk of developing Alzheimer\u2019s. The work will help lead to more personalized prevention strategies and\u00a0treatments\u00a0for the disease.<\/p>\n
The Brain Health Index<\/p>\n
Over the last several years, Dr. Galvin and his team have worked to develop\u00a0a way to prospectively measure resilience to\u00a0and risk of\u00a0Alzheimer\u2019s disease. Doing so, he said,\u00a0allows researchers to customize prevention and treatment to the individual. Drug developers can also benefit by finding new targets for medications and better ways to evaluate their efficacy.<\/p>\n
Currently, researchers can use autopsies or extensive biomarker tests to determine the extent of someone\u2019s disease process. They compare that to their symptoms to retrospectively assess how resilient they were to the damage Alzheimer\u2019s did on their brain. But they can\u2019t predict how resilient someone might be to future damage.\u00a0<\/p>\n
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Dr. James Galvin<\/p>\nOver the past five years, Dr. Galvin and his team have been building the Brain Health Index, a measurement which takes into account six factors that can make a person\u2019s brain healthier, including physical activity, sociability and diet. The index also assesses 12 factors that can make a person more vulnerable to Alzheimer\u2019s disease and conducts a brief, cognitive test that doesn\u2019t rely on language or memory.<\/p>\n
Together, these measures \u201ctell us in that cross-sectional moment how healthy their brain\u00a0is, and it will tell us some predictive value of how likely they are to develop disease in the future,\u201d said Dr. Galvin.\u00a0<\/p>\n
He and his team have enrolled 500 participants in the Health Brain Initiative, in which they test the measure in a variety of models. They\u2019ve studied how physical activity might improve someone\u2019s Brain Health Index score and how social determinants of health like living in a neighborhood with green space and parks can improve brain health.\u00a0<\/p>\n
They\u2019ve also begun looking at epigenetics\u2014how genes change their expression levels in response to experiences and environment. Researchers have found 37 distinct sites in the genome that are correlated with greater resilience.<\/p>\n
\u201cWe validated in an external, independent research sample, and showed a significant delay in cognitive decline if you have these signals.\u00a0So,\u00a0this gives us a potential druggable target,\u201d said Dr. Galvin.\u00a0\u201cAs we go on, we can think about how we can combine medical interventions with social interventions, health guidelines and potentially even public policy to lower people\u2019s risks of developing Alzheimer\u2019s disease.\u201d<\/p>\n
Genomics, Ancestry and Alzheimer\u2019s Risk<\/p>\n
Researchers from the\u00a0Hussman Institute gave six separate talks, paving the way for a better understanding of Alzheimer\u2019s disease and potential new therapeutics.<\/p>\n
The fact that the institute\u2019s researchers\u00a0gave so many presentations is a \u201ctestament to the type\u00a0and\u00a0breadth of work we\u2019ve been doing,\u201d said\u00a0Margaret\u00a0Pericak-Vance, Ph.D.,<\/a> director of the Hussman Institute and Dr. John T. Macdonald Foundation Professor of Human Genetics at the Miller School. \u201cWe covered everything from statistical analyses to functional\u00a0modeling to\u00a0bioinformatics of Alzheimer\u2019s disease genetics.\u201d\u00a0<\/p>\n
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Dr. Karen Nuytemans<\/p>\nHussman institute researchers who gave presentations included:<\/p>\n
\u2022 Brian Kunkle\u00a0Ph.D., M.P.H.,<\/a>\u00a0assistant professor in the The Dr. John T. Macdonald Foundation Department of Human Genetics<\/p>\n
\u2022 Karen\u00a0Nuytemans, Ph.D.,<\/a> assistant professor in the The Dr. John T. Macdonald Foundation Department of Human Genetics<\/p>\n
\u2022\u00a0Anthony Griswold, Ph.D.,<\/a>\u00a0assistant\u00a0professor in the The Dr. John T. Macdonald Foundation Department of Human Genetics and\u00a0associate\u00a0director of the\u00a0Center for Genome Technology<\/p>\n
\u2022 Bilcag Akgun, M.D., Ph.D., assistant scientist in the The Dr. John T. Macdonald Foundation Department of Human Genetics<\/p>\n
\u2022 Liyong Wang, Ph.D.,<\/a> research associate professor in the The Dr. John T. Macdonald Foundation Department of Human Genetics<\/p>\n
\u2022 Sofia Moura,\u00a0Ph.D.,\u00a0assistant scientist in the The Dr. John T. Macdonald Foundation Department of Human Genetics<\/p>\n
\u201cA key theme\u00a0among the talks,\u201d\u00a0explained Dr. Griswold, who spoke about\u00a0his\u00a0MAGENTA\u00a0project characterizing differences in DNA methylation and gene expression across ancestral groups,\u00a0\u201cis\u00a0the\u00a0role of genetic ancestry\u00a0in\u00a0modifying\u00a0Alzheimer\u2019s disease\u00a0risk\u00a0and pathology.\u201d<\/p>\n
Identifying the Fundamental Processes of Alzheimer\u2019s Disease<\/p>\n
Illuminating different genetic risk factors among specific ancestries\u00a0and sexes\u00a0provides insights that can apply\u00a0broadly\u00a0to anyone,\u00a0regardless of sex or ancestry. <\/p>\n
\u201cIt\u2019s really about\u00a0finding\u00a0the things\u00a0that\u00a0tell us about the fundamental processes that are\u00a0driving Alzheimer\u2019s disease\u00a0that then give us more opportunities to identify\u00a0therapeutic interventions\u00a0that can be used more universally,\u201d Dr. Griswold said.<\/p>\n
For example,\u00a0APOE\u00a0is the most well-known gene to impact Alzheimer\u2019s risk. But,\u00a0another gene,\u00a0ABCA7, influences risk in people with African ancestry.<\/a>\u00a0These two genes interact and are a part of the same pathway.<\/p>\n
\u201cIt\u2019s not just about\u00a0discovery of different genes. It\u2019s how these genes\u00a0interact, how these pathways fit together,\u201d said Dr. Pericak-Vance, adding that the findings can help identify new therapeutic strategies.<\/p>\n
Additionally,\u00a0Dr. Moura\u2019s presentation described her findings that\u00a0APOE\u00a0gene variants confer different levels of risk in individuals with different ancestries, because the gene is often surrounded by different DNA that regulates its expression.<\/p>\n
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Dr. Sofia Moura<\/p>\n\u201cThere\u2019s a big push to find a therapeutic intervention targeting APOE since the monoclonal antibodies on the market haven\u2019t been as effective as researchers hoped they\u2019d be,\u201d explained\u00a0Jeffery Vance,\u00a0M.D., Ph.D.,<\/a>\u00a0professor in\u00a0the Dr. John T. Macdonald Foundation Department of Human Genetics and director of the Center for Genomic Education and Outreach at the Miller School.\u00a0\u201cThis research has important implications for any therapy that targets the expression of\u00a0APOE.\u201d\u00a0<\/p>\n
Dr.\u00a0Nuytemans\u00a0presented a similar discovery.\u00a0In previous work,\u00a0the\u00a0team had identified a large family that had a shared variant in the\u00a0INSYN2B\u00a0gene, but that shared variants among other families seemed to be located outside of genes as noncoding variants. She presented data showing that in five of these families, the shared variants interacted with\u00a0INSYN2B.\u00a0<\/strong><\/p>\n
\u201cWe can then use what we\u2019ve learned on these mechanisms to modulate the risk of these variants on any ancestry, which ultimately is the goal of future therapies,\u201d she said.\u00a0<\/p>\n
Even seemingly distant genes can influence each other\u2019s expression. Dr. Wang\u2019s presentation focused on how DNA strands can fold into three-dimensional shapes that bring unexpected\u00a0gene and regulatory sequences\u00a0close together, allowing them to influence one another. DNA folds differently in people\u00a0across\u00a0ancestries. <\/p>\n
Her research provided \u201ca new way of looking at the ancestries that goes beyond just the DNA sequence differences\u00a0but really shows\u00a0this three-dimensional characteristic\u00a0that differ among\u00a0them,\u201d said Dr. Griswold.\u00a0<\/p>\n
Dr. Kunkle probed differences between men and women in a genome-wide meta-analysis study. He explained that most existing research assesses men\u2019s and women\u2019s risk together, but his team found that several genetic risk factors appear to be\u00a0sex-specific.\u00a0<\/p>\n
\u201cOne of the main\u00a0benefits of identifying sex-specific factors influencing Alzheimer\u2019s disease could be development of personalized preventative and therapeutic options based on a person\u2019s biological sex and genetic profile,\u201d he said.<\/p>\n
Reuniting with International Collaborators<\/p>\n
Throughout the conference, international experts congratulated the team on their findings. <\/p>\n
\u201cWe got a lot of positive feedback about how much information we\u2019re getting by using ancestry as a tool to probe into the\u00a0disease\u00a0mechanism,\u201d said Dr. Vance.<\/p>\n
In addition to these research presentations, the meeting provided an opportunity to meet in person with international collaborators on\u00a0the\u00a0DAWN study<\/a>, which brings together data research participants of\u00a0different ancestries from all over the world.\u00a0Attendees included Dr. Rufus Akinyemi from the University of Ibadan in Nigeria,\u00a0Dr. Kamada\u00a0Lwere from Makerere University in Uganda and Dr. Mario Cornejo-Olivas from\u00a0Universidad\u00a0Cient\u00edficadel Sur\u00a0in Peru.<\/p>\n
\u201cHaving a chance to spend time with\u00a0these\u00a0research teams\u00a0in person gave the\u00a0Hussman\u00a0team an opportunity to come up with exciting new ideas for future research\u00a0that will be presented at future international conferences and lead to new\u00a0global\u00a0discoveries,\u201d said Dr. Pericak-Vance.<\/p>\n
Tags:<\/strong> Alzheimer’s disease<\/a>, brain health<\/a>, cognitive decline<\/a>, Comprehensive Center for Brain Health<\/a>, Dr. Anthony Griswold<\/a>, Dr. James Galvin<\/a>, Dr. Jeffery Vance<\/a>, Dr. John T. Macdonald Foundation Department of Human Genetics<\/a>, Dr. Margaret Pericak-Vance<\/a>, genetics<\/a>, genomics<\/a>, Hussman Institute for Human Genomics<\/a>, neurology<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"By: Emma Yasinski | April 29, 2025 | 12 min. read\u00a0|\u00a0 Share Summary Researchers from the John P.…\n","protected":false},"author":2,"featured_media":64756,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[231,2770,400,33209,33210,33211,33212,33213,33214,267,3900,33215,233,70,16,15],"class_list":{"0":"post-64755","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-alzheimers-disease","9":"tag-brain-health","10":"tag-cognitive-decline","11":"tag-comprehensive-center-for-brain-health","12":"tag-dr-anthony-griswold","13":"tag-dr-james-galvin","14":"tag-dr-jeffery-vance","15":"tag-dr-john-t-macdonald-foundation-department-of-human-genetics","16":"tag-dr-margaret-pericak-vance","17":"tag-genetics","18":"tag-genomics","19":"tag-hussman-institute-for-human-genomics","20":"tag-neurology","21":"tag-science","22":"tag-uk","23":"tag-united-kingdom"},"share_on_mastodon":{"url":"","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/64755","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=64755"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/64755\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/64756"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=64755"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=64755"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=64755"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}