Posted on March 6th, 2014 by Admin
Guest Post Written By: Jennifer McCormick, Ph.D.
The discussions about what to do with incidental findings discovered during genetic and genomic research have recently taken on the question, “What do we do with clinically relevant incidental findings, when the research participant is deceased?”
From a Bioethical standpoint, we need to examine what researchers should do, if anything, about these findings. Should they approach family members of the deceased research participant with this information? Is it legal? Is it ethical?
As more and more genomic research is done using samples from biobanks, [...]
Posted on March 5th, 2014 by AJ Montpetit
Construction on the new freezer storage system for the Center for Individualized Medicine is nearly complete, and high-capacity robotic freezers are currently being installed. This centralized storage system is capable of storing 3.5 million DNA samples and is fully integrated with our specimen storage and tracking system. Deployment of this system will facilitate faster and more efficient genomics research, and sequencing data will be added to a growing institutional library of study participant genomes. TThis new environment will support individualized medicine practice and research at Mayo Clinic for decades to come, and we are converting unused storage space into [...]
Posted on February 28th, 2014 by Admin
Throughout the world today, patients with rare disease, organizations, and their partners, will join together to promote awareness for rare diseases and the millions of people affected by them.
Rare Disease Day was launched by EURORDIS and its Council of National Alliances in 2008. Held on the last day of February each year, it seeks to raise awareness for the impact rare diseases have on the lives of patients and those who care for them. A record 72 countries and regions participated in 2013 and over 80 are expected this year including 27 European Union Member States.
There are more than [...]
Posted on February 27th, 2014 by Center for Individualized Medicine
Speaking at the Individualized Medicine Conference in 2013, Mary V. Relling, Pharm.D. examines the clinical practice and implementation on creating the process to preemptively screen for the right drugs for the right patients at the right time.
Dr. Relling is one of the principal investigators within the National Institutes of Health Pharmacogenomics Research Network and co-founder of the Clinical Pharmacogenetics Implementation Consortium.
Posted on February 25th, 2014 by Admin
Researchers at Mayo Clinic have created a new key to unlocking secrets of the human genome. The Binary Indexing Mapping Algorithm, version 3 (BIMA V3) is a freely available computer algorithm that identifies alterations in tumor genomes up to 20 times faster and with 25 percent greater accuracy than other popular genomic alignment programs. BIMA results are published this month in the journal Bioinformatics.
BIMA is a next-generation sequencing mapping and alignment algorithm, customized to process mate pair library sequencing. [...]
Posted on February 20th, 2014 by Center for Individualized Medicine
Presenting at the Individualized Medicine Conference 2013, Elaine R. Mardis, Ph.D. discusses the therapeutic interpretations of next-generation sequencing. Dr. Mardis paints a picture of how these new sequencing options are bringing new interpretations and clinical applications for cancer patients.
Dr. Mardis is co-director of The Genome Institute at Washington University School of Medicine and a professor of genetics and molecular microbiology. As director of technology development, she helped create methods and automation pipelines for sequencing the human genome. She currently orchestrates the center's efforts to explore massively parallel sequencing technologies and transition them into production sequencing capabilities as well as new applications. Dr. Mardis has research interests in the [...]
Posted on February 18th, 2014 by Admin
Whole Genome Analyses of a Well-Differentiated Liposarcoma Reveals Novel SYT1 and DDR2 Rearrangements
Source: PLOS ONE
Liposarcoma is the most common soft tissue sarcoma, but little is known about the genomic basis of this disease. Given the low cell content of this tumor type, we utilized flow cytometry to isolate the diploid normal and aneuploid tumor populations from a well-differentiated liposarcoma prior to array comparative genomic hybridization and whole genome sequencing. This work revealed massive highly focal amplifications throughout the aneuploid tumor genome including MDM2, a gene that has previously been found to be amplified in well-differentiated liposarcoma.
Structural analysis revealed massive rearrangement of [...]
Posted on February 14th, 2014 by Center for Individualized Medicine
A fluorescence in-situ hybridization (FISH) test of cholangiocarcinoma cells with FGFR2 rearrangement, left, shows distinct orange and green signals present in most of the cells. A patient, right, with the same type of cancer that has no rearrangement shows that the orange and green signals remain [...]