Skip to main content
Premium Trial:

Request an Annual Quote

Complete Genomics, ISB, and Gladstone to Sequence Whole Genomes of Families in Huntington's Study

Premium

The Institute for Systems Biology, the Gladstone Institute of Neurological Disease, and Complete Genomics announced a collaboration this week to use whole-genome sequencing of families to search for drug targets in Huntington's disease.

Gladstone will provide DNA samples from Huntington's disease patients and unaffected or at-risk family members. The ISB and Complete Genomics will do the sequencing. The goal is to identify inherited variants that affect the manifestation of the disease and that could be used as drug targets. Additionally, the researchers will also use induced pluripotent stem cells, created from the skin cells of the patients, to screen for drugs.

While Huntington's disease is attributed to a single gene mutation, the disease manifests itself differently among affected individuals, and researchers think that a suite of other genes are involved in regulating the age of onset, severity, progression, and symptoms of the disease.

"We hope to find out why HD manifests and progresses in different ways in different people and to discover other genes that influence the disease," Steven Finkbeiner, the director of the Taube-Koret Center for Huntington's disease research at Gladstone, said in a statement.

The ISB has previously used whole-genome sequencing in families to identify the causative mutation in Miller syndrome (IS 3/16/2010). This project differs in that it is not looking for the causative mutation, but variants that affect how the disease progresses.

Lennart Mucke, director of the Gladstone Institute, said in a statement that the researchers eventually plan to use whole-genome sequencing to study Alzheimer's disease, frontotemporal dementia, and Parkinson's disease.

The Scan

Purnell Choppin Dies

Purnell Choppin, a virologist who led the Howard Hughes Medical Institute, has died at 91, according to the Washington Post.

Effectiveness May Decline, Data From Israel Suggests

The New York Times reports that new Israeli data suggests a decline in Pfizer-BioNTech SARS-CoV-2 vaccine effectiveness against Delta variant infection, though protection against severe disease remains high.

To See Future Risk

Slate looks into the use of polygenic risk scores in embryo screening.

PLOS Papers on Methicillin-Resistant Staphylococcus, Bone Marrow Smear Sequencing, More

In PLOS this week: genomic analysis of methicillin-resistant Staphylococcus pseudintermedius, archived bone marrow sequencing, and more.