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Archive - Feb 27, 2017

Aptamer-Based ADAPT Platform from Caris Life Sciences Detects Breast Cancer in Women via Liquid Biopsy of Circulating Exosomes

Caris Life Sciences®, a leading innovator in molecular science focused on fulfilling the promise of precision medicine, announced, on February 21, 2017, the results of a study that demonstrates the ability of the company’s ADAPT Biotargeting System™ to detect and classify women with or without breast cancer based on a minimally-invasive liquid biopsy of circulating exosomes from blood plasma. The study was published in Nature’s Scientific Reports ( on February 20. The open-access article is titled “Plasma Exosome Profiling of Cancer Patients by a Next Generation Systems Biology Approach.” “The ability to accurately detect breast cancer with a minimally-invasive blood-based method that covers a systems-wide range of biomarkers would offer a significant advance in breast cancer diagnosis and patient management,” said Dr. Lee Schwartzberg (not involved in the research), Chief, Division of Hematology/Oncology at the University of Tennessee Health Science Center. “Results of this study provide a potential future opportunity to address shortcomings in the current standard of diagnostic testing utilizing mammography and other imaging techniques, which frequently generate indeterminate results that can result in patients facing invasive tissue biopsies.” The ADAPT Biotargeting System uses a highly complex library of single-stranded molecules called oligodeoxynucleotide (ssODNs) aptamers that bind to individual and multi-component targets, enabling them to profile biological samples at a systems-wide scale. In the study published in Scientific Reports, a parent library of approximately 1011 ssODNs was “trained,” or enriched, for aptamers that preferentially associate either with plasma exosomes from women with breast cancer or with plasma exosomes from women without breast cancer.

Rare Disease Day 2017 Takes Place Worldwide

Today (February 28) is RareDiseaseDay 2017! Today, with events taking place in over 90 countries all around the world, it is hoped that more awareness than ever will be raised for rare diseases! With the theme of “research,” and the slogan, “With research, the possibilities are limitless,” RareDiseaseDay 2017 is an opportunity to call on all researchers, universities, students, companies, policymakers, and clinicians to do more research and to make them aware of the importance of research for the rare disease community. Rare diseases affect an estimated 25 million Americans. On Feb. 27, 2017, the National Institutes of Health hosted “Rare Disease Day at NIH” to raise awareness about rare diseases, the people they affect, and research collaborations that are making a difference. The event featured presentations, posters, exhibits, an art show, and tours of the NIH Clinical Center — a hospital at which researchers are studying more than 500 rare diseases in partnership with nearly 15,300 unique patients. Scheduled speakers at the NIH Rare Disease Day event included Rep. Leonard Lance, (R-NJ), Co-Chair of the Congressional Rare Disease Caucus; Francis S. Collins, M.D., Ph.D., Director, NIH; Christopher P. Austin, M.D., Director, NCATS, NIH; Anthony S. Fauci, M.D., Director, National Institute of Allergy and Infectious Diseases, NIH; James K. Gilman, M.D., Chief Executive Officer, NIH Clinical Center; and John I. Gallin, M.D., Associate Director for Clinical Research and Chief Scientific Officer, NIH Clinical Center. This year's Rare Disease Day video (, which has been viewed over a hundred thousand times and translated into over 30 languages, draws a parallel with a routine that many of us go through multiple times a day - searching for an answer on the internet.

Novel Syndrome Highlights Importance of Rare Disease Research--Profiling a Newly Discovered Deafness-Dystonia Syndrome

A group of researchers from Pakistan, Europe, and Singapore has identified and characterized a previously undiscovered rare deafness-dystonia syndrome in a family living in a remote region of Pakistan. The research, published in issue 10 (2017) of Disease Models & Mechanisms, describes how five of the eight children in one family developed a range of symptoms as they grew: hearing impairment at six months of age developed into profound deafness by ten years old, accompanied by delayed motor development and subsequent regression. This condition has been named 'Siddiqi syndrome' for Dr. Saima Siddiqi from the Institute of Biomedical and Genetic Engineering in Islamabad, Pakistan, who initially made contact with the family. A research team, led by Dr. Siddiqi and Dr. Hannie Kremer from the Radboud University Medical Center in Nijmegan, The Netherlands, used whole-exome sequencing to identify a single homozygous nonsense mutation in the gene for FITM2, a protein involved in lipid droplet formation and energy metabolism. To confirm the discovery, the team reduced the activity of the homologous gene in fruit flies and found that these flies displayed hearing and locomotor impairments, as seen in the affected family. The researchers were further able to clarify that reduced activity of the gene causes abnormal branching of sensory neurons in flies as they develop. Directing resources to rare disease research might not always be the obvious choice when the results will apparently benefit only a small group of people. However, Dr. Siddiqi explains that rare diseases in remote and underdeveloped regions like Pakistan are not necessarily as rare as might be thought because a lack of facilities and funding prevents proper disease management and diagnosis.