Alzheimer’s Disease Variant Portal (ADVP): The Newest Curated Population-specific Alzheimer’s Disease Genetics Resource
By Fernanda Ruiz, NOVA Research Company Alzheimer’s Disease (AD) is a devastating disease that affects more than 6 million Americans, a number that is projected to increase considerably in the near future. Scientists looking for the causes of AD use different approaches, including genomic studies like genome-wide association studies (GWAS), that detect associations between genetic […]
Structural Variant Toolbox: Discovering, Genotyping, and Merging SVs in Alzheimer’s Disease Research
By Fernanda Ruiz, NOVA Research Company Alzheimer’s disease (AD) is a degenerative disease that likely is caused by a combination of environmental, lifestyle, and genetic factors, and increasing age. Alzheimer’s Disease Sequencing Project (ADSP) researchers are focused on gaining further insights into the genetic component of this disease, including the role of structural variants (SVs), […]
Genome Center for Alzheimer’s Disease Receives $20 Million Five-Year Renewal
PNGC is excited to announce that the Genome Center for Alzheimer’s Disease (GCAD) has received a 5-year grant renewal totaling $20 million to continue their work. GCAD, a collaborative research center between Penn, Boston University, Case Western Reserve University, Columbia University, the University of Miami, and the University of Indiana, aims to identify AD-related genes […]
PNGC Co-Director Li-San Wang to Present at the 2021 NIH Alzheimer’s Research Summit
The NIH will host their 2021 Alzheimer’s Research Summit April 19-22. This virtual summit will convene leading AD scientists, innovators, and public health advocates to showcase progress in Alzheimer’s disease research and ideas for supporting the goal of precision medicine for Alzheimer’s treatment and prevention. On Tuesday, April 20, Drs Li-San Wang (Penn) and Timothy […]
NIAGADS DSS Releases Additional 17K Whole Genomes
NIAGADS is pleased to announce the release of whole genome sequencing (WGS) data from 16,906 samples through the Data Sharing Service (DSS). The data release includes CRAMs, gVCFs, and project-level VCFs across all samples. The pVCF released here is provided as a preview to the formal ADSP quality control that will be released in a few months.
NIAGADS DSS Releases Additional 17K Whole Genomes
NIAGADS is pleased to announce the release of whole genome sequencing (WGS) data from 16,906 samples through the Data Sharing Service (DSS). The data release includes CRAMs, gVCFs, and project-level VCFs across all samples. The pVCF released here is provided as a preview to the formal ADSP quality control that will be released in a few months. Additionally, this release…
Alzheimer’s Disease Genetics Global Symposium
The Alzheimer’s Association and the National Institute on Aging have organized a virtual symposium on the Alzheimer’s genes and hereditary. The aim of the symposium is to discuss global studies in Alzheimer’s, advances in genetic pathways, and the implications of this research on clinical practice and public health around the globe. Virtual presentations for the […]
Welcome New Faculty Alessandra Chesi, PhD
Alessandra Chesi recently joined the Department of Pathology and Laboratory Medicine in the Division of Experimental Pathology, as well as the Penn Neurodegeneration Genomics Center. Alessandra joins us from CHOP where, from 2013-2020, she was a Bioinformatic Specialist in Struan Grant’s lab and the Center for Spatial and Functional Genomics. Before joining CHOP, Alessandra worked in the laboratory […]
Working from home? Check out new genetics data for Alzheimer’s disease research!
The NIA is excited to announce the release of the latest genomics data set from the Alzheimer’s Disease Sequencing Project (ADSP). The NIA Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) is a vital tool as we seek to better understand genes that increase risk for — or protection from — AD/ADRD. Researchers can now access […]
NIAGADS DSS Releases 20K Whole Exomes
NIAGADS is pleased to announce the release of 19,922 whole exomes called on GRCh38 through the Data Sharing Service (DSS). Nine different studies contributed to the release, including 10,088 ADSP Discovery Case Control WES samples, 3,144 ADGC African American WES samples, 75 Brkanac Families WES samples, 346 Corticobasal degeneration WES…
Event Recap: The Alzheimer’s Disease Genetics Consortium (ADGC) 10-Year Symposium
Last month, on November 12 and 13, the Alzheimer’s Disease Genetics Consortium (ADGC) 10-Year Symposium took place at the Inn at Penn in Philadelphia, PA. The event was sponsored by the Perelman School of Medicine and the Department of Pathology and Laboratory Medicine, and it was organized by ADGC, Penn Neurodegeneration Genomics Center (PNGC) and […]
The Founders of PNGC
The Penn Neurodegeneration Genomics Center was founded three years ago by Dr. Gerard Schellenberg and Dr. Li-San Wang. Together they have contributed over 40 years of their lives to Alzheimer’s research. How did you get started in Alzheimer’s research? Dr. Schellenberg: Dr. Schellenberg was offered a grant in 1982 for Alzheimer’s research. At the time, […]
PNGC at AAIC – 2019 Recap
PNGC members had a great experience at the Alzheimer’s Association International Conference (AAIC) this year. AAIC took place in Los Angeles from July 12-17. We presented four posters during the conference and the National Institute on Aging Genetics of Alzheimer’s Disease Data Storage Site (NIAGADS) exhibited for the first time. In addition, Dr. Adam Naj […]
Additional ADSP Data Released
We are pleased to announce a new data release on the NIAGADS Data Sharing Service (DSS). The NIAGADS DSS currently hosts ADSP Discovery+ Extension whole genome data from 854 subjects in 159 families and an additional 1433 cases and 1654 controls as well as 809 whole genomes from ADNI-WGS-1. Additional data…
Collaboration with ADNI
In a collaboration with LONI, GCAD has recalled the 809 ADNI-WGS-1 whole genomes using the VCPA 1.0 pipeline and is releasing this data along with the 3985 ADSP whole genomes. Principal Investigators requesting this data must an approved application with ADSP through the DSS as well as ADNI. More information about this…
First Dataset Released
The NIAGADS DSS currently hosts ADSP Discovery+ Extension whole genome data from 854 subjects in 159 families and an additional 1433 cases and 1654 controls as well as 809 whole genomes from ADNI-WGS-1. The first release includes the GATK called CRAMs and gVCFs generated by Genome Center for Alzheimer’s Disease…
NIAGADS DSS is now live!
NIAGADS is pleased to announce that its Data Sharing Service is now live. The NIAGADS DSS hosts genomic data from the Alzheimer’s Disease Sequencing Project (ADSP) and other NIA funded AD genomic studies with approved users in the research community at large. The DSS hosts sequencing data mapped to GRCh38,…
Penn Medicine Press Release Highlights New Data Sharing Service
Recently, Penn Medicine News wrote a press release describing the new NIAGADS Data Sharing Service (DSS), which will distribute genomic data to qualified investigators. Initially, whole-genome sequence data will be available for 5,000 subjects, with more data to be released within a year. “Genetic findings for Alzheimer’s disease are critical for identifying targets for therapeutic […]
The State of Alzheimer’s Disease Genetics Research: A Discussion with Dr. Gerard Schellenberg
- Human genetics helps us understand the biology of Alzheimer’s and identify drug targets.
- Improvements in technology such as sequencing and gene therapy are promising.
- Large sample sizes and rich phenotypes are critical to finding new AD genes.
- Data visualization and outreach will encourage closer collaboration among the research community.