AD/PD 2019 Recap

AD/PDTM 2019, the 14th​ International Conference on Alzheimer’s and Parkinson’s Diseases and related neurological disorders, was held in Lisbon on March 26-31. The conference is at the forefront of unraveling the mechanisms and improving the treatment of Alzheimer’s, Parkinson’s and other related neurodegenerative diseases. AD/PDTM Conferences uniquely combine distinct neurodegenerative diseases in one setting and examine their similarities and differences; a strong focus is mechanisms of disease, prevention and therapy (from A symposium session on the Alzheimer’s Disease Sequencing Project was held on March 26, with over 200 participants attending. Five ADSP principal investigators (Gerard Schellenberg, Lindsay Farrer, Margaret Pericak-Vance, Richard…

Alex Amlie-Wolf Defends Ph.D. Thesis at Penn

On Friday, April 12, Genomics and Computational Biology student Alex Amlie-Wolf defended his Ph.D. thesis. His work during his time as a student in the GCB program included the development of the INFERNO method, a software tool and web server that integrates public genomic data with GWAS summary statistics to characterize the mechanisms of noncoding variants underlying association signals. His thesis work included applying INFERNO to the analysis of genetic associations with a range of neurodegenerative diseases, including a detailed analysis of Alzheimer’s disease signals with experimental validation and the analysis of a large genomic inversion underlying progressive supranuclear palsy.…

IGAP Identifies New Genes Implicated in Alzheimer’s Disease

The International Genomics of Alzheimer’s Project (IGAP) has identified five new genes that increase risk for Alzheimer’s Disease, as well as confirmed the association of another 20 genes and AD risk. The consortium has also found that tau related mutations could play an earlier role in disease development than previously understood. IGAP is led by Gerard Schellenberg here at the University of Pennsylvania Perelman School of Medicine. A large portion of the data used in this research came from the Alzheimer’s Disease Genomics Consortium at Penn, which is part of IGAP. Both the National Institute on Aging and Penn Medicine…

DASHR 2.0 Released: Integrated database of human small non-coding RNA genes and mature products

PNGC is pleased to announce the release of the DASHR v2.0 database of human small non-coding RNAs (sncRNAs). DASHR v2.0 is freely available at This is an extremely useful resource and reference for the community studying non-coding RNAs and their diverse roles in often tissue-specific cellular processes related to human diseases.

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.

SPAR: Small RNA-seq Portal for analysis of sequencing expeRiments

PNGC is pleased to announce the release of the SPAR web server for small RNA-seq data analysis.

Small non-coding RNAs (<200 nts, sncRNAs) play important regulatory roles by binding to mRNA and associating with transcription factor complexes in most eukaryotes, but only a fraction of sncRNAs, which include many different classes, have been identified and characterized.

PNGC Hosts Guest Seminar on Proteomics and Tauopathy

Judith Steen, an Associate Professor of Neurology at Harvard Medical School, spoke at Penn at the beginning of May. Dr. Steen has conducted research in the field of proteomics (the study of the structure and function of proteins), as well as the systems biology of proteopathies, or diseases due to…

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.

Largest GWAS To Date Implicates Abeta, Tau, Immunity and Lipid Processing in LOAD

The Alzheimer’s Disease Genetics Consortium (ADGC) and and the International Genomics of Alzheimer’s Project (IGAP) performed the largest genetic wide association study (GWAS) to date to discover risk loci for LOAD. Their meta-analysis implicates Abeta, Tau, immunity and lipid processing. The paper on Alzheimer’s disease genetic association has been published on bioRxiv and can be found here.   Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing Brian W. Kunkle, Benjamin Grenier-Boley, Rebecca Sims, Joshua C. Bis, Adam C. Naj, Anne Boland, Maria Vronskaya, Sven J van der Lee, Alex…