How Human Tissue Is Collected for Use in Genetic Research

Posted by Luke Doiron on May 24, 2016 8:00:00 AM


Amazing advancements in understanding the genetics behind a variety of diseases have come about in large part because of the use of human tissue specimens by researchers around the globe. Biospecimens have been collected for many decades now, but today, there is a growing recognition of the need for higher quality, well annotated and more diverse specimens to advance our understanding of the molecular basis for disease.

Traditionally, tissue specimens are collected during a surgical procedure to remove a suspicious growth for biopsy or to excise a tumor or other growth. The remaining tissue after pathology analysis was often discarded or was so small in size as to make it unusable for additional research. With the rise of genetic testing and research, this model is changing. Now, more and more medical institutions are actively recruiting a people representing a diversity in health status, demography, treatment history, etc. The reason is that such populations help researchers advance their understanding of disease genetics and the differences that can and do exist among different populations.

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Praise for the Hoarders: Pathologists Provide a Treasure Trove of Genetic Info for Research with FFPE

Posted by Martha Jordan on May 19, 2016 1:06:00 PM


In a conference video dated September 2013 Joshua Schiffman, M.D., Pediatric Oncology Director of Utah Children’s Hospital, lovingly refers to pathologists as hoarders: “Pathologists have a very distinctive clinical psychiatric disorder and the best way to describe [it is through] the television show called ‘Hoarders.’ [They] can’t throw anything away. A patient comes in; a sample comes out. God forbid you throw that sample away.”


The receptacles of their hoarding habits are Fixed Formula Paraffin Embedded tissue samples (FFPE), sometimes referred to as “paraffin blocks.” Thanks to the hoarders, and more sophisticated methods of DNA retrieval, cytogeneticists can find clues about rare cancers, useful in diagnosing and pinpointing treatment plans to improve cancer survival rates.

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Hashimoto's Disease: A Patient's Perspective

Posted by Quinton Stevens on May 19, 2016 11:30:00 AM



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Considerations for Using Peripheral Blood for Breast Cancer Research

Posted by Luke Doiron on May 17, 2016 8:00:00 AM


With nearly all cancers, the earlier the diagnosis, the better the long-term prognosis. For breast cancer, in particular, the good news is that survival rates are steadily improving, thanks to increased awareness and the widespread use of mammogram screening. Yet, the number of deaths estimated for 2016 is expected to exceed 40,000, a number that is still unacceptably high. One key reason is time of diagnosis and cancer stage at diagnosis. Statistics from the American Cancer Society find that the five-year survival for stage I breast cancer (2012) was 100%, but only 22% for stage IV metastatic breast cancer. These numbers continue to add urgency to the search for better diagnostic, prognostic and treatment tools.

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Diagnosis and Treatment: Challenges Faced with Autoimmune Diseases

Posted by Quinton Stevens on May 15, 2016 5:00:00 PM



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5 Types of Mononuclear Cells and How They Differ

Posted by Luke Doiron on May 10, 2016 8:00:00 AM



Every day, we encounter billions of  unseen enemies - bacteria, viruses, and fungi - ready to attack and make us ill. Fortunately, our immune system has evolved into a lean, mean fighting machine, and when in proper working order, it routinely sends out a variety of warriors to fight off and defeat bacterial and viral threats such as a nasty cold or flu. These immune system components are part of our peripheral blood mononuclear cells (PBMC), which are basically blood cells with round nuclei.

Though there are two main types of mononuclear cells (lymphocytes and monocytes), there are 5 key subtypes within the two main categories. Each one has a specific and important role to play in fighting infection, cancerous cells, and other foreign intruders.

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The Role of the Biobank in Genetic Research Today

Posted by Luke Doiron on May 3, 2016 8:00:00 AM


Researchers involved in genetic research are like detectives in their search for the answers to many difficult questions. What is the role of genetic susceptibility in disease development and treatment response? Why do some patients develop drug toxicities and is their genetic background a contributing factor? Given a certain genetic profile, what clinical treatment protocol would be most effective for this particular patient? Can we get treatments into clinical practice faster using the genetic information obtained from biobank specimens?

Biobanks, also known as biorepositories, are critical resources for scientists seeking to unlock the genetic origins of many diseases and find novel therapies to better treat and cure cancer and other disorders. Biobanks collect and store specimens that contain a wealth of information linked to genetic disease predisposition. Unlocking the genetic mechanisms underlying the multitude of cancer types and subtypes can help optimize targeted drug development and ultimately, accelerate new clinical treatments. The emerging field of personalized medicine has captured the public's imagination and is helping to accelerate and prioritize research into the molecular genetics of disease and potential new treatments arising from that knowledge.

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Performing Whole-Exome Sequencing on FFPE Mutation Samples

Posted by Luke Doiron on Apr 28, 2016 7:00:00 AM


Whole-exome sequencing (WES) technology has rapidly been embraced as a valuable and cost-effective method for sequencing the expressed genes in a genome (i.e. the exome). WES benefits researchers and clinicians seeking to identify the mutations found in many types of tumors and other difficult-to-treat disorders such as Alzheimer’s disease. As investigators gain greater insight via WES and other massive parallel sequencing methods into the biology and genetics of disease, the goal is to find and exploit new clinically useful therapy targets.

However, one of the obstacles to the routine use of WES is obtaining enough samples to perform the large-scale studies necessary to advance and inform cancer research and clinical care. One solution might be the literally millions of formalin-fixed, paraffin-embedded (FFPE) specimens stored in tissue banks and biorepositories across the globe, many of which are well-annotated, with good histology, pathology, and clinical care data attached.

Yet, it’s a well-known fact that if FFPE specimens are not properly fixed using the right fixation agents, and/or improperly stored, the extracted DNA material may be too poor in quality to be used for exome sequencing studies. In addition, sometimes a difficult extraction process leads to low yields and/or very small sample sizes that are less useful for sequencing protocols. This has led to investigations aimed at determining whether FFPE archival specimens are reliable and valid sources of extracted DNA material.

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