ADSP Releases Additional 19K Whole Genomes via NIAGADS DSS
October 11, 2022
On October 6, 2022, the Alzheimer’s Disease Sequencing Project (ADSP) released a new dataset comprised of 19,456 newly sequenced genomes together with joint genotype calls totaling 36,361 genomes with previously released genomes. The data release includes sequencing reads in the CRAM file format, individual sample genotype calls in the genomic Variant Call Format (gVCF), and a preview project-level genotype call dataset in the VCF format across all samples, all generated by the Genome Center for Alzheimer’s Disease (GCAD). The project-level VCF is provided as a preview to the full ADSP quality control that will be released in the next few months.
Alzheimer's Disease Sequencing Project Phenotype Harmonization Consortium
October 1, 2021
Vanderbilt University Medical Center has been awarded a five-year, $31.7 million grant by the National Institute on Aging, part of the Nation Institutes of Health (NIH), to harmonize research data gathered on human subects in scores of disparate studies of Alzheimer's disease and related dementias (ADRD). This will produce a large-scale, racially diverse, standardizes set of transparently defined data the will support machine learning and open new windows into the genetic basis of ADRD and Alzheimer's resiliency.
Cultivating hope
March 19, 2021
A study published by VMAC investigators in 2019 confirmed recent studies that carrying the APOE ε4 allele has a greater association with Alzheimer's disease among women compared to men and went one step further by evaluating its association with amyloid and tau levels. The research, based on a meta-analysis of both cerebral spinal fluid (CSF) samples from study volunteers from four datasets and autopsy findings from six datasets of Alzheimer-diseases brains, is the most robust evidence to data that the APOE gene may play a greater role in women than men in developing Alzheimer's pathology, said Timothy Hohman, PhD, associate professor of Neurology and the study's lead author...
Genes and Alzheimer's Resilience
March 19, 2021Hohman's team also works to identify genetic markers for such resilience to better understand its molecular basis. His work integrates an individual's age, sex, genetic, and neuropathological features into a precision medicine model to characterize if an individual patient is resilient against disease or is susceptible to future dementia. Ultimately, the hope is to move genetic markers of resilience toward therapeutics and intervention...
New connection between Alzheimer's dementia and Dlgap2
November 23, 2020
A research team has discovered that Dlgap2, a gene that helps facilitate communication between neurons in the nervous system, is associated with the degree of memory loss in mice and risk for Alzheimer's dementia in humans. When studying post-mortem human brain tissue, the researchers also discovered low levels of Dlgap2 in people experiencing 'poorer cognitive health' and 'faster cognitive decline' prior to death...
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Genetic clues found for cognitive resilience to Alzheimer's disease
October 22, 2020
Three genetic variants may be associated with cognitive resilience in Alzheimer's disease, according to the results of a large, genome-wide association study (GWAS). The study, funded in part by NIA, identified novel genetic variants, genes and biological pathways that are associated with cognitive resilience, or protection, from memory and thinking issues connected to Alzheimer's disease despite the presence of neuropathology in the brain...
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Doubling Down on Sequencing Serves up More Alzheimer's Genes
July 31, 2020
The list of rare and common genetic variants that sway a person's risk of Alzheimer's disease just got substantially longer, as researchers expanded both the breadth and depth of genomic studies aimed at uncovering the etiology of the disease. At this week's virtual Alzheimer's Association International Conference, researchers described how harmonizing whole-exome-sequencing data from two massive consortiums in the United States and Europe unearthed rare variants that boost the risk of AD...
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Women and Men Differ in Their Genetic Risk for Alzheimer's Progression
July 2, 2020
Researchers are beginning to assess how genetic variation influences sex differences in Alzheimer's disease. True, women who have an ApoE4 allele are more likely to develop Alzheimer's than are male carriers, but what about the many other variants that have been implicated in this genetically complex disease?...
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Alzheimer's Changes Tied to Childhood Cognitive Experience
June 29, 2020
A higher level of early-life cognitive enrichment -- such as learning a foreign language, reading and being read to, and playing games like checkers -- was tied to a slower rate of late-life cognitive decline, a clinical-pathological longitudinal cohort study showed. This effect occurred partly through an association with lower levels of Alzheimer's pathology changes...
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Alzheimer's: New Gene May Drive Earliest Brain Changes
June 22, 2020
A newly discovered Alzheimer's gene may drive the first appearance of amyloid plaques in the brain, according to a study led by researchers at the Vagelos College of Physicians and Surgeons at Columbia University Irving Medical Center. Some variants of the gene, RBFOX1, appear to increase the concentration of protein fragments that make up these plaques and may contribute to the breakdown of critical connections between neurons, another sign of the disease....
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They have 'Alzheimer's brains' but no symptoms. A new wave of drug developers want to know why
February 27, 2020
In the largest-ever study of the DNA basis of Alzheimer's resilience, Vanderbilt's Hohman and his colleagues looked for genetic factors that let some people avoid memory loss and other symptoms of Alzheimer's disease even though they have the brain signatures of the disease....
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Study Provides Robust Evidence of Sex Differences with Alzheimer's Gene
May 7, 2018
The APOE gene, the strongest genetic risk factor for Alzheimer's disease, may play a more prominent role in disease development among women than men, according to new research from the Vanderbilt Memory & Alzheimer's Center. The research confirmed recent studies that carrying the APOE ε4 allele has a greater association with Alzheimer's disease among women compared to men, and went one step further by evaluating its association with amyloid and tau levels...
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Sex on the Brain: Unraveling the differences between women and men in neurodegenerative disease
December 6, 2016
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Vanderbilt study explores genetics behind Alzheimer's resiliency
May 2, 2014
Autopsies have revealed that some individuals develop the cellular changes indicative of Alzheimer's disease without ever showing clinical symptoms in their lifetime. Vanderbilt University Medical Center memory researchers have discovered a potential genetic variant in these asymptomatic individuals that may make brains more resilient against Alzheimer's....