Working in partnership with the Institute for Genomic Biology at the University of Illinois at Urbana-Champaign, the Center for Individualized Medicine and the Bruce Fouke Lab produced a work of art from the photo of a human kidney stone (featured after the break) that was featured at the Chicago Midway International Airport at "The Art of Science: Images from the Institute for Genomic Biology" exhibit.
The most common hereditary colon cancer disorder, Lynch syndrome, increases the risk of colorectal cancer (CRC) and are usually caused by germline mutations in 1 of 4 mismatch repair (MMR) genes: MLH1, MSH2, MSH6 and PMS2. Identifying people who are at risk is important for their care, as well as the care of members of their family. A Lynch diagnosis may determine the extent of colon cancer surgery, for instance, and it increases the need for more-frequent colonoscopies after a colon cancer diagnosis.
Colorectal cancer (CRC) remains the second-leading cause of cancer deaths in the United States, and a new multi-marker test for stool DNA (sDNA) developed by Mayo Clinic in collaboration with Exact Sciences Corp. of Madison, Wis., has seen improvements to the effectiveness of screening for CRC and reducing risk. No special preparations are needed for the test, it can be performed on mailed-in samples. This eliminaties the need for an office visit, and it has provides highly accurate at detecting premalignant polyps and early-stage colorectal cancer. "We have a mandate to improve effectiveness of screening by better use of existing tools and by creating better tools," says David A. Ahlquist, M.D., of Mayo Clinic. "If one had to start all over, the ideal screening test would be noninvasive and affordable; require no bowel prep, medication restriction or diet change; and would detect neoplasms on both sides of the colorectum with high accuracy."
Until recently, polygenic (complex) diseases were beyond the capacity of first-generation sequencing, but next-generation sequencing (NGS) in making exploration of genetic etiology of complex diseases a possibility for the first time. NGS is a rapidly growing area of genomics and gene sequencing, and the rapid changes hold more promise for exome decoding than ever before. "NGS offers rapid sequencing of the entire human genome compared to traditional molecular testing that focuses on a single gene at a time. And it does so at low cost with high accuracy," explains Konstantinos N. Lazaridis, M.D., Enterprise Director of the Individual Medicine Clinic.
The BRCA1 and BRCA2 genes have become the most well-known breast cancer genes to be tested for due to recent celebrity buzz as well as Supreme Court ruling on the patents on the genes themselves. While getting tested for the BRCA1 and BRCA2 reveals the possibility for a woman to contracting breast cancer, the mutations in these genes account for just a small fraction of all breast cancers, and a negative test does not mean never contracting breast cancer. Likewise, testing positive does not presage a future tumor. By combining family history data and laboratory techniques, Mayo Clinic geneticist Fergus J. Couch, Ph.D., is innovating research to give women the genetic information necessary to make crucial personal health decisions.
600,000 angioplasties are performed every year in the United States, which has raised the question of which antiplatelet medication is best after a coronary ...
Until recently, very few people knew the name Henrietta Lacks, or what she has contributed to science. Through the voice of her daughter, and with the help of journalist Rebecca Skloot, the name Henrietta Lacks is synonymous with the HeLa cells from Ms. Lacks that were the first immortal, and stable cell line to be developed by researchers. HeLa cells have been pivotal to the development of many achievements in medicine that today we all take for granted. Most biomedical science researchers know about, and even regularly use, HeLa cells. In fact, I myself used HeLa cells back when I was actively working the lab. The publication of The Immortal Life of Henrietta Lacks revealed the details of how the HeLa cells came to be, and how her family came to learn of the existence of the HeLa cells.
http://www.youtube.com/watch?v=6jaeRQ_3Nco&feature=share&list=PLE4A384A799EFD6C4 The Individualized Medicine Conference 2013:From Promise to Practice, focuses on how to translate the promise of genomic medicine to your practice. ...
Collaboration is a key area of proven scientific discovery at Mayo Clinic, and with an international research team led by investigators from the ...
In a recently published article in Hemotology, Center for Individualized Medicine faculty George Vasmatzis, Ph.D., co-authored a study in high resolution mate-pair sequencing. With the use of high resolution mate-pair sequencing (HRMPS) in 15 patients with primary myelofibrosis (PMF): eight with normal karyotype and seven with PMF-characteristic cytogenetic abnormalities, including der(6)t(1;6)(q21–23;p21.3) (n = 4), der(7)t(1;7)(q10;p10) (n = 2), del(20)(q11.2q13.3) (n = 3), and complex karyotype (n = 1).
The Breast Cancer Genome-Guided Therapy (BEAUTY) study is designed to help researchers better understand why standard chemotherapy eradicates breast cancer in some women but fails in others. The long-term goal is to enable individualized treatment for each woman with breast cancer by using the genetic information found in blood samples and tumor biopsies to predict the most effective therapies. Dr. Judy Boughey and Dr. Matthew Goetz joined the Medical Edge radio program (now called Mayo Radio) last September of 2012 to discuss the BEAUTY Project. You can listen to the full program after the break.
Hello! I’m Tammy McAllister, Operations Manager in the Center for Individualized Medicine at Mayo Clinic. As administrative partner to Dr. Kostas Lazaridis, Enterprise Director of the Individualized Medicine (IM) Clinic, our roles include overseeing the management and expansion of the newly formed IM Clinic. This is a really exciting time in healthcare! Discoveries made through the Human Genome Project are rapidly progressing and, at the same time, the cost of genomic testing is declining making it practical to use these new, powerful tools for patient care. At Mayo, our new IM Clinic focuses on using these new advances in DNA sequencing to benefit our patients--to help diagnose, treat, predict or prevent disease. Because of the complex nature and enormous volume of the data generated by DNA sequencing, we want to help shepherd the beginning of this translation process at Mayo Clinic. The key is to show that using these new tests is effective and efficient because they use the patients’ unique DNA to help tailor, or individualize, treatment specific to their own version of their disease--ultimately saving the patients time, expense and the pain of failed other treatments.