Quality Statement

Pacific Biosciences is committed to providing high-quality products that meet customer expectations and comply with regulations. We will achieve these goals by adhering to and maintaining an effective quality-management system designed to ensure product quality, performance, and safety.


Image Use Agreement

By downloading, copying, or making any use of the images located on this website (“Site”) you acknowledge that you have read and understand, and agree to, the terms of this Image Usage Agreement, as well as the terms provided on the Legal Notices webpage, which together govern your use of the images as provided below. If you do not agree to such terms, do not download, copy or use the images in any way, unless you have written permission signed by an authorized Pacific Biosciences representative.

Subject to the terms of this Agreement and the terms provided on the Legal Notices webpage (to the extent they do not conflict with the terms of this Agreement), you may use the images on the Site solely for (a) editorial use by press and/or industry analysts, (b) in connection with a normal, peer-reviewed, scientific publication, book or presentation, or the like. You may not alter or modify any image, in whole or in part, for any reason. You may not use any image in a manner that misrepresents the associated Pacific Biosciences product, service or technology or any associated characteristics, data, or properties thereof. You also may not use any image in a manner that denotes some representation or warranty (express, implied or statutory) from Pacific Biosciences of the product, service or technology. The rights granted by this Agreement are personal to you and are not transferable by you to another party.

You, and not Pacific Biosciences, are responsible for your use of the images. You acknowledge and agree that any misuse of the images or breach of this Agreement will cause Pacific Biosciences irreparable harm. Pacific Biosciences is either an owner or licensee of the image, and not an agent for the owner. You agree to give Pacific Biosciences a credit line as follows: "Courtesy of Pacific Biosciences of California, Inc., Menlo Park, CA, USA" and also include any other credits or acknowledgments noted by Pacific Biosciences. You must include any copyright notice originally included with the images on all copies.


You agree that Pacific Biosciences may terminate your access to and use of the images located on the PacificBiosciences.com website at any time and without prior notice, if it considers you to have violated any of the terms of this Image Use Agreement. You agree to indemnify, defend and hold harmless Pacific Biosciences, its officers, directors, employees, agents, licensors, suppliers and any third party information providers to the Site from and against all losses, expenses, damages and costs, including reasonable attorneys' fees, resulting from any violation by you of the terms of this Image Use Agreement or Pacific Biosciences' termination of your access to or use of the Site. Termination will not affect Pacific Biosciences' rights or your obligations which accrued before the termination.

I have read and understand, and agree to, the Image Usage Agreement.

I disagree and would like to return to the Pacific Biosciences home page.

Pacific Biosciences

Unsolved Mysteries: Sequencing to Solve Neurologic Disease with Structural Rearrangements

Wednesday, February 20, 2019

Kristen Sund

Please join us in congratulating Kristen Sund from Cincinnati Children’s Hospital Medical Center for winning our 2018 Structural Variation SMRT Grant Program!

Her proposal to use SMRT Sequencing to pinpoint the genetic mechanism responsible for neurological disease in patients with complex structural rearrangements definitely captured our attention. We caught up with Kristen to learn more about her background, her research, and how she hopes to use the data generated through this grant.

How did you get into this field?

I have always had a very strong interest in research and patient care, so I decided to get training as a genetic counselor and to get my PhD in molecular and developmental biology. I guess it makes sense from there that I am constantly looking for ways to use the latest technologies to find the genetic cause for disorders that were previously undiagnosable.

What does your day-to-day work look like?

Right now, I’m a laboratory fellow in a combined program for cytogenetics and molecular genetics at the ABMGG Laboratory for Genetics and Genomics. My activities focus on learning everything from the wet lab to analysis to quality control to interpretation for clinical genetic testing. What I really love about the combined approach to molecular genetics and cytogenetics is that it allows us to fully integrate what we’re doing for a particular case and focus on finding an answer. It feels more holistic.

What’s the background behind your SMRT Grant proposal?

When I was a genetic counselor in the lab, I was involved with research projects that focused on using the latest genetic technologies. At the time we were not offering clinical whole exome sequencing and there was a strong interest in using the technology on a research basis for some families that hadn’t been diagnosed. I wound up developing an analysis algorithm which I’m sure is very primitive by today’s standards, but at the time it got the job done. We actually solved a number of those cases. I loved that work — getting to know the families and being able to find them an answer in some cases. In my lab now, we do offer whole exome sequencing, but I began wondering what else we could do with other technologies that wasn’t possible with exome sequencing. How could we use long-read sequencing to search for answers for cases that are undetectable with other technologies?

What is it about these cases that makes them challenging to solve with other approaches?

Here’s one example of a case that we’re planning to submit for long-read sequencing. This patient has a neurologic phenotype and a known chromosome abnormality that is a little bit unusual because it involves two chromosomes and four chromosome breaks from an insertion and a translocation. The patient has had extensive follow-up testing including a SNP microarray and a couple of NGS panels, all of which came back normal. I’m convinced that one of these breakpoints holds the answer. I’ve been able to estimate the location of the breakpoint and some genes that might be in the region, but all we can do is guess until we can get a higher resolution look at the breakpoints and hopefully find a gene of interest.

What does it mean to long-undiagnosed patients to finally get an answer?

Families use the information in different ways. One family that comes to mind started a support group through Facebook. This child was a teenager, so this family had been dealing with this her whole life, but they didn’t know what to expect for her prognosis or how to explain it to other people. For them, it was huge to get an answer. There are no real treatment options, but it meant so much to the family to find out what to expect.


We’re excited to support this research and look forward to seeing the results. Check out our website for more information on upcoming SMRT Grant Programs for a chance to win free sequencing. Thank you to our co-sponsor, the University of Minnesota Genomics Center, for supporting the 2018 Structural Variation SMRT Grant Program!



For Research Use Only. Not for use in diagnostic procedures.

Subscribe for blog updates: