Devastating diseases like cancer and autism can be caused by spontaneous changes to our DNA—mutations first appearing in the child, or in our tissues as we age. We are developing methods to discover these changes in individuals, tumors, and even single cells, to promote early detection and treatments
Michael Wigler’s work provides a new paradigm for understanding and exploring human disease. The Wigler lab studies human cancer and the contribution of new mutation to genetic disorders. The cancer effort (with James Hicks, Alex Krasnitz, and Lloyd Trotman) focuses on breast and prostate cancers. It involves collaborative clinical studies to discover mutational patterns predicting treatment response and outcome and the development of diagnostics to detect cancer cells in bodily fluids such as blood and urine. The major tools are single-cell DNA and RNA analysis. The single-cell methods, which are in development, are also being applied to problems in neurobiology (with Josh Huang and Pavel Osten) to characterize neuronal subtypes, somatic mutation, and monoallelic expression. The Wigler lab’s genetic efforts are a collaboration with Ivan Iossifov and Dan Levy, and this team focuses on determining the role of new mutations in pediatric disorders. In a large-scale population sequencing project with W. Richard McCombie and the Genome Sequencing Center at Washington University in St. Louis, and supported by the Simons Foundation, the team has proven the contribution of this mechanism to autism. The work further suggests a relationship between the mutational targets in autism and the process of neuroplasticity that lies at the heart of learning. Smaller-scale population studies of congenital heart disease and pediatric cancer (collaborations with scientists at Columbia University and Memorial Sloan- Kettering Cancer Center, respectively) also point to new mutation as a causal factor in these disorders.
CSHL investigators rank among world’s most highly cited
December 11, 2019
Seven researchers affiliated with CSHL are among the scientists producing the top 1 percent of the most highly-cited research in the world.
Portrait of a Neuroscience Powerhouse
April 27, 2018
A relatively small neuroscience group at CSHL is having an outsized impact on a dynamic and highly competitive field
Autism genetics study calls attention to impaired motor skills, general cognitive impairment
February 7, 2018
New research on the genetic causes of autism calls attention to diminished motor skills and suggests the importance of broad cognitive impairment
New method to determine before surgery which prostate tumors pose a lethal threat
December 1, 2017
The news about prostate cancer can be confusing. It’s the third most common cancer type among Americans.
Next-gen cancer test
November 24, 2017
Knowing that cancers become lethal when they spread, investigators at Cold Spring Harbor Laboratory seek a way of detecting tumors much earlier
New statistical method finds shared ancestral gene variants involved in autism’s cause
June 21, 2017
Researchers find children with autism are genetically more like other autistic children than their unaffected siblings.
The 2016 Cold Spring Harbor Laboratory Double Helix Medal Dinner video
December 2, 2016
Dr. Bruce Stillman, President, Cold Spring Harbor Laboratory, discusses the history of the Lab and current research in biology and genomics.
Why is autism more common in boys?
April 29, 2016
Ivan Iossifov talks about some of the reasons why autism disproportionately effects boys on a genetic level.
Where does autism come from when it doesn’t run in the family?
April 7, 2016
Associate Professor Ivan Iossifov discusses how parents who are not autistic can pass autism onto their children through their genes.
Finding huge promise in a single cell with student Robert Aboukhalil
November 2, 2015
Robert Aboukhalil use his skills as a computational biologist to make single-cell genomic data easy for scientists and clinicians to access and use.