Public Release: 

Cold Spring Harbor Laboratory Press launches new Journal of Precision Medicine

Cold Spring Harbor Molecular Case Studies presents genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information

Cold Spring Harbor Laboratory


IMAGE: Cold Spring Harbor launched a new journal in precision medicine, Molecular Case Studies. view more

Credit: Victor Leshyk

Cold Spring Harbor, New York, September 24, 2015 -- Cold Spring Harbor Laboratory Press today launched Cold Spring Harbor Molecular Case Studies (MCS), a new open-access, peer-reviewed journal in the field of precision medicine.

"With so much individual sequencing going on in so many places, we have created a new type of journal designed to rapidly communicate studies that utilize 'omic' data to solve patient diagnoses and uncover new treatments," said Elaine Mardis, MCS Editor-in-Chief. Dr. Mardis currently also serves as Robert E. and Louise F. Dunn, Distinguished Professor of Medicine, and Co-Director of the McDonnell Genome Institute at Washington University.

Dr. John Inglis, Executive Director and Publisher, Cold Spring Harbor Laboratory Press, noted that the journal's open-access publishing model will serve the many scientists, clinicians, and patient advocacy groups currently driving the development of precision medicine. "All papers will be published continuously online and can be read by anyone. This barrier-free sharing of information across scientific disciplines and medical specialties is critical to the journal's mission of improving patient care."

MCS coverage includes cancer, complex diseases, monogenic disorders, mitochondrial diseases, neurological conditions, orphan diseases, infectious disease, and pharmacogenomics. It has a rapid peer-review process based on technical evaluation of the analyses performed that will provide authors a swift, clear path to publication and readership.

The journal's editorial board includes leaders in key fields at the intersection of research and clinical practice, allowing the journal to publish a variety of paper types, including Research Reports, presenting detailed case studies of individuals and small cohorts; Research Articles, describing more extensive work using larger cohorts and/or functional analyses; Follow-Up Reports, linked to previous observations; and Review Articles, Editorials, and Position Statements covering best practices for research in precision medicine.

"MCS is an educational opportunity for those involved to learn about new areas of expertise, to share the collective intellectual pursuit of a problem, and to hopefully break new ground in how medicine is practiced," added Dr. Mardis. "For example, I am personally captivated by work going on that fuses genomics with cancer immunotherapy."

The first issue launched online today with 16 articles including:

  • Metabolomics: an emerging but powerful tool for precision medicine

  • Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

  • Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma

  • Lessons learned from the application of whole-genome analysis to the treatment of patients with advanced cancers

  • Democratization of genetic data: connecting government approval of clinical tests with data sharing

Complete text of all articles and author submission guidelines can be found online at:


About Cold Spring Harbor Laboratory

Established in 1890, Cold Spring Harbor Laboratory, headquartered in Cold Spring Harbor, New York, is a private, nonprofit basic research and educational institution, with some 330 scientists who conduct groundbreaking research in cancer, neurobiology, plant genetics, and bioinformatics. The Laboratory is one of eight National Cancer Institute designated basic research centers in the United States. It is recognized internationally for its educational activities, which include scientific meetings and courses that attract more than 8000 scientists to the campus each year. Its Watson School of Biological Sciences offers an innovative Ph.D. program. In addition, the Laboratory trains college undergraduates through the Undergraduate Research Program, high school students through the Partners for the Future Program, and grade-school children through its Nature Study Program summer camp. The Laboratory also operates the Dolan DNA Learning Center, which offers laboratory workshops to science teachers and students. Other components of the Laboratory include Cold Spring Harbor Laboratory Press, the Banbury Conference Center, and the Cancer Genome Research Center.

About Cold Spring Harbor Laboratory Press

From its beginnings in 1933 as an initiative to publish an annual Symposium on Quantitative Biology, Cold Spring Harbor Laboratory Press is now the largest of the five educational divisions of the Laboratory, with more than 200 books in print, seven journals, and a variety of online initiatives, including bioRxiv, the pre-preprint server for the life sciences. Its publications assist working scientists, graduate and undergraduate students, and the general public through the mission of the Press to foster and financially support the Laboratory's commitment to the advance and spread of scientific knowledge.

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