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Disease Funding Initiatives


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

Autism

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. 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.

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Pancreatic Cancer

CSHL has several researchers working on pancreatic cancer. David Tuveson, Professor, directs the Lustgarten Foundation Pancreatic Cancer Research Laboratory at CSHL.

Greg Hannon, Professor and HHMI Investigator, uses sophisticated technologies to better understand the biology of pancreatic cancer and to uncover new therapeutic targets.

Mikala Egeblad, Assistant Professor, has developed a novel imaging system to better characterize the complex interactions between pancreatic tumor cells and the surrounding microenvironment, which has implications for improving therapeutic options for pancreatic cancer.

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Rhabdomyosarcoma (RMS)

Rhabdomyosarcoma (RMS) is a skeletal muscle cancer that can be found anywhere in the body, from the head to the limbs. It is a rare, though often fatal, disease that primarily affects children.

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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.