Cold Spring Harbor Laboratory Press launches new Journal of Precision Medicine

    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: