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Disease Research

Researchers at Cold Spring Harbor Laboratory use a multi-disciplinary, collaborative approach to investigate questions with relevance to the following diseases:

Alzheimer's disease
Researchers at CSHL are working to understand the cellular mechanisms involved in the development of Alzheimer's and find therapeutic ways to prevent the neuronal damage associated with the disease. 


New technologies and software developed at CSHL have been used to scan and analyze genomes in an effort to understand the genetics of autism. Discoveries about variations in human genome structure, particularly gene copy-number variations, have been especially revealing. Read More


Bipolar disorder and Depression
Dysfunction at neuronal synapses is thought to play a major role in these psychiatric disorders. Recent technological breakthroughs are helping CSHL researchers investigate disease-related synaptic changes in relevant brain circuits and gain insights into mechanisms that can be used to modify disease-related behavior.


At CSHL, which was designated as an NCI Cancer Center in 1987, scientists focus on understanding the underlying causes of cancer, and developing biochemical and genetic tools to diagnose and treat the disease. CSHL scientists are committed to improving the diagnosis and treatment of several different cancer types, including: brain, breast, cervical, colon, leukemia, liver, lung, lymphoma, melanoma, ovarian, pancreatic, prostate and rhabdomyosarcoma (RMS).  Read More


Parkinson’s disease
This research program aims to understand the genetic and molecular basis of the neurodegeneration seen in Parkinson’s patients and to develop new modes of therapy. Read More


Genetics is known to play a large role in the causation of schizophrenia, and research at CSHL has sought to clarify that role, as well as understand in detail the relationship between specific genetic anomalies and their impact on the biology of the brain. Read More
Spinal muscular atrophy and other muscular dystrophies
CSHL researchers have exploited their insights into the cellular mechanism of RNA splicing to develop therapeutic strategies to correct the underlying molecular defects that cause these diseases. Some of these potential therapeutic targets are now in pre-clinical testing.