At DNA Genotek, we recently learned the details of study being conducted by Generation Scotland called The Scottish Family Health Study. We wanted to share some of this information with you here on The Genetic Link.
Study overview
Generation Scotland is creating an ethically sound, family and population-based resource to identify the genetic basis of common complex diseases. The Generation Scotland Scottish Family Health Study is a large-scale, long-term project, which aims to find out more about common illnesses, such as heart disease and stroke. It is known that heredity plays a role in these diseases. By collecting medical and genetic information from families, and by following their health over the coming years, Generation Scotland hopes to find out which lifestyle and inherited factors are connected with higher or lower risk of these illnesses.
Main challenges
The Generation Scotland Scottish Family Health Study aims to collect phenotype information and blood for biochemical analysis and DNA isolation from 25,000 people living in Scotland. As the name suggests, the Scottish Family Health Study is based on families, so they need at least one sibling and preferably other family members (aged 18 or over) as well. The inclusion of as many family members as possible, especially from large families, will increase the power of the study. However, for a variety of reasons, not all participants can make a clinic appointment. Collecting DNA samples from relatives who live in geographically dispersed locations may not be possible within a clinic setting. Others may be inconvenienced by a visit to the clinic. To overcome this barrier to compliance and to maximize the number of study participants, Oragene•DNA kits are mailed to such participants, with instructions for self-collection.
To read the full case study on this study and how Oragene•DNA helped overcome their recruitment challenge, please click here.
I hope you enjoyed learning more about this study. Be sure to subscribe to The Genetic Link so you don't miss any of our articles.
We were recently introduced to an organization at the heart of a movement focused on the fight against HIV/AIDS, tuberculosis and malaria. It’s a movement that is designed to end these diseases faster.
The organization is called the Global Business Coalition (GBC) on HIV/AIDS, tuberculosis and malaria and DNA Genotek has joined the GBC in its fight to end these diseases. DNA Genotek chose to join the GBC because there is a natural fit between their mandate and our technologies. GBC brings together businesses across various sectors to help fight global epidemics. Our products, designed to enable safe, easy and reliable collection of DNA and RNA samples, are the building blocks to genetic research and analysis of these diseases. The Oragene family of products is unique in that they facilitate research in low-resource settings where these diseases are most prevalent.
John Tedstrom, GBC’s president and CEO commented on DNA Genotek’s involvement: “DNA Genotek, with its expertise as a leader in enabling genetic research, will be a powerful asset to the Coalition. It is by connecting the technical expertise of companies like DNA Genotek with our partners in government, civil society and the multilateral community that we’ll be able to defeat these diseases faster.”
Ian Curry, president and CEO of DNA Genotek commented: “Understanding the genetic basis of HIV/AIDS, TB and malaria is critical to discovering new prevention and treatment options. DNA Genotek’s Oragene•DNA family of products has facilitated the genetic study of many diseases. It is our hope that our work with the GBC will enable research that may one day lead to the identification of the genes involved in these diseases or genes which cause resistance to treatment so that effective measures can be taken.”
Our involvement in the GBC allows us to continue to pursue our goal of enabling worldwide health improvements. We are all looking forward to working with the GBC.
What do you think of initiatives like this? Leave a comment and tell us your thoughts.
For the second year in a row, DNA Genotek will be collecting DNA samples onsite at the National Walk for Epilepsy on March 27th, 2010 in Washington, DC. Our participation in this event supports the efforts of the Columbia University Family Studies in Epilepsy Program and their study which is designed to identify genes that play a role in causing epilepsy.
The National Walk for Epilepsy is the largest of its kind nationally that is dedicated to increasing awareness of epilepsy and raising funds to support epilepsy programs, education, advocacy and research. The venue attracts more than 8,000 participants who are personally invested in helping find a cure for the condition and presents an excellent opportunity for Columbia University to accelerate its research by providing access to significant numbers of candidates who satisfy donor profile requirements.
This scale of onsite DNA collection would not be possible without our Oragene•DNA self collection kit. Oragene•DNA enables easy and non-invasive self-collection of saliva samples from large numbers of people and delivers high quality DNA. The samples remain stable at room temperature for 5 years enabling our customers to collect hundreds or even thousands of samples at an event like this and not have to worry about the storage temperature or degradation in quality of the sample.
This event is part of our DNA Genotek Helping Hands Program which is designed to assist organizations that are innovators in disease research, disease prevention and treatment. Within this program, we apply our technology and expertise to accelerate DNA sample collection or treatment and prevention of disease. The goal of the program is to help our customers' research and advance the fight against disease across the globe.
This year, I will personally be on-site for this collection event and I couldn't be more excited. As the event unfolds, I will update you on the status of the collection, tell you what I experienced and share what I learned.
We're hoping for a record turn out at the ‘Give a Spit' booth and you can help. You can join the hundreds of families that participate in this research program and make a critical contribution to understanding the causes of certain seizure types. Families and scientists, working together, can find the causes of epilepsy and improve treatment.
So if you happen to be in the Washington, DC area on March 27th, drop by the National Walk for Epilepsy and come to the ‘Give a Spit' booth. You can find us on Jefferson Street (between 12th and 14th).
To learn more about the Family Studies in Epilepsy at Columbia University, visit their Web site.
Recent statistics suggest cancer mortality rates are declining due to better prevention, early detection methods and improved treatments, yet so much remains to be done. With cutting-edge research continually pushing the boundaries of science and discovery, it is not surprising that an increasing number of cancer researchers are turning to the newest tool in the DNA collection toolbox - DNA from saliva.
Saliva has traditionally been overlooked as a source of DNA for cancer research but Oragene•DNA has changed that. What makes saliva-based DNA collection with Oragene•DNA so important to cancer research? Saliva provides a non-invasive means of collecting high quality and quantity DNA that is stable at room temperature, which makes samples easy to collect, store and ship. With geographically dispersed subjects, scientists can even mail Oragene•DNA kits to participants, who follow the directions, and return the saliva samples to the laboratory for analysis using standard mail service. Cancer research groups around the world are now focusing on the potential of this common bodily fluid for detecting the genetic link to the disease and studying genes without the need for a blood draw.
Now that researchers trust that DNA from saliva using Oragene is equivalent to DNA from blood, the door is open to populations they would normally not have access to. Collecting blood is very invasive and not a practical procedure for children or individuals that can't give blood for religious or medical reasons or for those who do not have access to a collection center. Compliance rates improve with saliva resulting in the collection of more samples.
Breast cancer researchers at the University of Arkansas for Medical Sciences (UAMS) are hoping to answer some important questions with DNA from saliva. They are building a repository aimed at studying breast cancer risk and treatment. Their goal is to collect 40,000 samples over a five year period. They want to learn why one individual is affected by breast cancer but another is not. Or why two women with the same disease respond differently to the same treatment. What inherited factors contribute to the disease? What environmental factors contribute to breast cancer? How do inherited and environmental factors interact to cause the disease?
The researchers decided to use Oragene•DNA because saliva-based collection offered them a non-invasive, easy-to-use and reliable method to collect the large number of DNA samples they need. The kit stabilizes DNA at room temperature until it can be analyzed, which eliminates storage and logistical issues. In addition, Oragene•DNA provides the high quality, high quantity DNA required for establishing the bio-repository. The reliability and ease-of-use also enabled on site event-based collections bolstering the donor group by thousands in a single day.
In another example, researchers at Inserm (I'Institut national de la santé et de la recherché medicale) in France are conducting a study on thyroid cancer using Oragene•DNA. The primary goal of the project is to better understand the risk factors associated with the development of thyroid cancer. The project will establish a DNA bank to permit future studies of candidate genes linked with thyroid cancer and to study gene-environment interactions. The team evaluated the possibility of collecting blood samples, buccal swabs or Oragene•DNA. After evaluating all options, they decided to use Oragene•DNA as it was the only method that allowed them to overcome their main challenge of maximizing compliance rates for geographically dispersed participants.
So, is saliva-based DNA collection the newest tool in the fight against cancer? Enabled by Oragene•DNA, the answer is a definitive ‘yes'. Cancer research with saliva DNA has definitely come of age.
Do you have thoughts you'd like to share on this topic? Leave a comment and let us know what you think. Don't forget, The Genetic Link has subscription options; you can follow by email or RSS feed.
Every day, it seems, scientists learn something new about how our genes work. One fascinating area of research involves understanding the role of our genes in the initiation, progression and treatment of diseases; such as cancer. Understanding cancer on a molecular and genetic level makes for good science and good medicine. We understand that all cancers are not created equally. From the moment you are conceived, your genes may increase your susceptibility to developing certain cancers or, later on, your environmental exposures or other factors may cause changes in your genes that cause cancer to develop. Cancer is not one disease, but many, adding to the complexity and breadth of studies.
Research is the best way to fully understand the mechanics of this disease and ultimately develop better strategies to combat it. Scientists and clinicians alike are constantly working to learn more about the role of genetics in cancers so they can improve treatment options and health outcomes for patients. The study of genes and cancer all share a fundamental requirement - they all need DNA.
The collection and analysis of DNA from blood and tissue have long been considered the golden standards in cancer research studies. Obtaining high quality genomic DNA is critical for studies that aim to evaluate the role of genetic factors in cancer. However, cancer research studies often require very large numbers of samples from a dispersed population and non-invasive methods for DNA collection. Saliva samples, which are painless for the donor and relatively easily collected, are quickly becoming the preferred choice.
Oragene•DNA is the product of choice for many cancer researchers who require a safer, simpler mechanism for collecting genetic samples than the traditional method of blood collection. This method of DNA collection is highly desirable in certain patient groups (e.g., children, those fearful of venipuncture, geographically dispersed study populations, or as a back up source of DNA in studies that collect blood).
Oragene•DNA kits are being used today in a wide variety of cancer studies including those investigating candidate genes and inherited risk family studies. Oragene•DNA is well suited for cancer research applications including:
Genetic Research: to identify genetic targets for therapy or diagnostics;
Genetic Screening: to help determine who is at high risk of developing cancer and who would have the better prognosis;
Pharmacogenomics: to determine the influence of genetics on treatment choice and disease prognosis.
One example of the type of cancer research that is benefiting from non-invasive DNA sample collection is breast cancer. One such research study was published in 2009: Christine B. Ambrosone, Gregory L. Ciupak, Elisa V. Bandera, et al., "Conducting Molecular Epidemiological Research in the Age of HIPAA: A Multi-Institutional Case-Control Study of Breast Cancer in African-American and European-American Women," Journal of Oncology, vol. 2009, Article ID 871250, 15 pages, 2009. doi:10.1155/2009/871250.
The authors of this research conducted a case-control study with the goal of recruiting 1200 African American and 1200 European American women with breast cancer and an equal number of controls in order to evaluate numerous risk factors for early/aggressive breast cancer and to evaluate the distribution of these risk factors within and across racial/ethnic groups. They initially collected blood samples which were processed and stored in the laboratory at the Mount Sinai School of Medicine. In 2007, to reduce costs and to facilitate participation, they transitioned to collection of saliva using Oragene•DNA kits for DNA extraction. The authors state: "These collection kits yield large quantities of high quality DNA, comparable to that obtained from whole blood."
If you'd like more details on how the researchers benefitted from non-invasive DNA collection in this breast cancer research study, download the full copy here.
At DNA Genotek, we're committed to creating educational resources for researchers involved in cancer genetics and to facilitate the sharing of best practices for DNA collection. If you have information to share or would like to contribute to this blog, please send us your suggestions and ideas.
We'll be posting more articles on saliva DNA collection methods for cancer research in the coming weeks. Don't forget, The Genetic Link has subscription options; you can follow by email or RSS feed.
I have to admit, coming up with DNA Genotek's "Top 10 list for 2009" was more difficult than I imagined it would be. There are so many great things that happened in the past year - in our company, with our customers, and in the field of genetics - but I think I've got it narrowed down to those that are most significant.
DNA Genotek's "Top 10 list for 2009" is based on my own experience and things that I observed or learned over the past year. The list is by no means comprehensive, but I assure you that these are the 10 things I'll remember most from 2009.
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In 2009, I was amazed at the rate of advancement our customers achieved in genetic understanding and I'm excited about the impact these advancements could have on science, medicine and health. Whether it was research into the genetic link for autism, ADHD, diabetes, cancer or tropical diseases, each provides another piece of the puzzle and may one day unlock the mysteries of these and other diseases.
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We expanded our product portfolio in 2009 and launched our first DNA collection product designed for non-humans.
Oragene•ANIMAL was officially introduced to the market in June and very quickly had a major impact. The product has been used in international studies like the one designed to find the genetic cause of
Chiari-like Malformation and syringomyelia in dogs and many others. We're already seeing
published research that demonstrates its' effectiveness compared to blood and buccal swabs. This is an exciting start for a new product in a new market.
- In 2009, we saw some great new customers join the DNA Genotek family. The Oragene•DNA product was selected by Prometheus as the sample collection kit for MyCeliacID, the first saliva-based genetic test dedicated to celiac disease. We continued to increase the number of customers we have and to grow our product usage within existing customer accounts. 23andMe, for example, added a number of new traits and health conditions to their service (which uses our product for DNA collection). This is, by far, the best testament to our product quality, reliability and ease of use.
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I was astounded by the rate of growth of Genome Wide Association Studies (GWAS) in 2009. GWAS have contributed substantially to our understanding of disease and an increasing number of our customers are conducting GWAS. I look forward to the day that new and improved treatments and preventative measures are available based on the insights from these complex studies.
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In December of 2009, DNA Genotek was selected as a successful biotechnology company to be featured at the 2010 Vancouver Olympics. Even though the Olympics are still more than a month away, I feel like we've already won our gold medal.
- The creation of the DNA Genotek Helping Hands Program was another highlight for me. We launched new Spit for the Cure events in association with Susan G. Komen for the Cure, participated with the Columbia University Family Studies in Epilepsy to collect DNA samples on site at the National Walk for Epilepsy, and donated compression bandages to treat podoconiosis in Ethiopia. The goal of the program is to help accelerate research and advance the fight against disease across the globe. The program is young, but I'm optimistic about its potential for success and its ability to help our customers improve health worldwide.
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We saw phenomenal progression in genome mapping in 2009. The genomes of the domestic horse, giant panda, cow, turkey, corn, the Irish potato famine pathogen, and the date palm were all mapped along with many others. What this will mean is uncertain but the knowledge is sure to contribute to scientific advancement. For example, the successful sequencing of the cow genome could lead to treatments for malaria and the development of a 'super cow' that thrives in harsh conditions. Genetic information about the date palm is extremely valuable to researchers who are working to improve fruit yield and quality and to better understand susceptibility and resistance to disease. I can't wait to see what's next.
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We created the
DNA Genotek Partner Program late in 2009 and formalized the great relationships we have with so many institutions and partner companies. I look forward to even more growth in this area in 2010.
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Finally, I'm particularly proud of our employees and their attention to customers' needs. I watch them pull off small miracles on a daily basis - from driving through raging snowstorms to make sure a product gets to a customer on time, to impeccable attention to detail in our product customizations, to outstanding focus on quality. They do this because they believe in the work our customers are doing. They believe that one day, our products will ship to someone who will find a treatment or cure for a disease that impacts them, their family, or someone they know. Now that's motivation.
No article that includes a top 10 list for the year would be complete without mentioning New Year's resolutions. I considered all the usual New Year's resolutions both personally and for DNA Genotek. I even googled the top 10 most popular New Year's resolutions. None of them seemed appropriate. It really comes down to this -- for 2010, I resolve that we will increase our focus on product innovation so our customers continue to have the tools they need to make history by finding genetic links that can lead to a cure or new treatment for disease. Human genetics is incredibly complex, but equipped with the right tools, geneticists have a unique opportunity for unprecedented exploration into genetic links to disease. If we can do that, 2010 will be very successful for DNA Genotek.
I hope you enjoy the first of what I hope will become an annual Top 10 list. If you have ideas for our 2010 list or think I missed something that should be on our 2009 list, leave a comment and let me know.
DNA Genotek recently announced that an international team of researchers used the Oragene•DNA product to investigate a genetic link to podoconiosis, a neglected tropical disease. Podoconiosis is a disease occurring in individuals exposed to red clay soil derived from volcanic rock in tropical Africa, Central America and Northwest India. Podoconiosis occurs in barefooted farmers and other occupational groups where exposure to volcanic soil is common. Characteristics of the disease include swelling of the foot and lower leg which progresses to elephantiasis, having a severe impact on mobility and quality of life for those affected. The photograph on the right shows a patient with an advanced case of the disease.
Dr. Melanie Newport, Professor in Infectious Diseases and Global Health, Brighton and Sussex Medical School, UK and Dr. Gail Davey, Associate Professor, School of Public Health, Addis Ababa University co-lead the study. They found that Oragene was very well suited to this type of research.
Dr. Newport stated, "Collecting DNA samples in rural Ethiopia would be a tremendous challenge without Oragene•DNA. The saliva-based product was easy-to-use and completely non-invasive, which allowed us to collect from as many individuals as possible. The product provides high quality DNA and is stable at ambient temperatures, which is ideal for collection in a tropical environment."
We feel this is important news to share for a number of reasons:
- Podoconiosis affects more people than HIV infection, TB or filarial elphantiasis in the affected regions.
- Podoconiosis is a neglected and under-researched condition.
- An estimated one million Ethiopians are afflicted with podoconiosis. This creates a huge economic burden in endemic areas as it often leads to unemployment for those who suffer from severe cases.
- The burden of the disease has been shown to fall in the most economically active sector of the population, having a severe impact on productivity.
- Social stigma against people with podoconiosis is rife.
- People with podoconiosis lose 45% of total productive work days when compared to unaffected people, costing a single zone of 1.5 million inhabitants more than US$16 million per year. Podoconiosis thus contributes significantly to poverty in affected communities.
If you take a moment to consider the facts above, it's obvious that the scale of the problem is overwhelming in affected regions. However, podoconiosis is unique in that it is an entirely preventable non-communicable disease. Primary prevention of podoconiosis consists of avoidance of prolonged contact between the skin and irritant soils. This may be achieved with use of robust footwear. Secondary prevention takes the form of training in foot hygiene and use of socks and shoes. Compression bandaging is effective in reducing the size of the soft type of swelling. Progression can be completely averted if these measures are strictly adhered to, but compliance must be life-long as there is no cure for the condition.
If you'd like to learn more, you can visit The Mossy Foot Treatment and Prevention Association web site (podoconiosis is also referred to as mossy foot disease). You'll find more information on the condition and learn how you can help.
In the meantime, we'll be waiting to hear from Drs. Newport and Davey as they complete the analysis of the DNA samples. When they identify the gene or genes involved, we'll be sure to let you know here in The Genetic Link.
Earlier this year, one of our customers took advantage of a unique opportunity and turned it into a successful DNA collection event. Without advance planning, this customer was able to set up an impromptu DNA collection clinic, access volunteers who met the required profile for the research, and complete collection all in one day. Sound impossible? It's not if you're the Hospital for Sick Children in Toronto, Ontario and you have Oragene•DNA kits.
The Hospital was treating an 11-year-old female patient of Sri Lankan Tamil descent who needed gene therapy treatment to save her sight. The girl had been diagnosed with Leber congenital amaurosis (LCA), a retinal disorder usually diagnosed soon after birth. Doctors at the hospital needed to confirm that a genetic mutation believed to be the cause of the condition was uncommon among Sri Lankan Tamils. If they could do that, the girl would remain in a gene therapy trial that could improve her sight, however, the deadline to have the DNA samples collected and tested was imminent.
Researchers at the hospital needed a control group of at least 50 Sri Lankan Tamils willing to provide a DNA sample. If the genetic mutation was common among the control group, the research team would know it is not causing the girls' disease and they could proceed with the gene therapy treatment. This would be a daunting task for any researcher but the looming deadline made it a unique challenge.
Coincidently, that week hundreds, sometimes thousands of Sri Lankan Tamils were protesting on a street near the hospital. With consent forms and Oragene•DNA kits (to collect saliva) in hand, the team from the Hospital for Sick Children went to the protest to ask for volunteers to provide a DNA sample. In a short period of time, the researchers were able to get the required 50 control samples and complete the research.
This kind of DNA collection would not have been possible without a product like Oragene•DNA. Imagine going to this protest and trying to convince the participants to leave the protest, go to the hospital and provide a blood sample. The likelihood of success would have been significantly reduced if not completely eliminated.
At DNA Genotek, we always enjoy hearing what our customers are doing with our product. This story made us so proud of this customer's achievements. I hope this story inspires you to think of new and innovative ways of collecting DNA or RNA. Have you done something unique to collect DNA samples? Do you have an idea for DNA collection that hasn't been done before? Let us know about it -- we'd love to include it in our blog.
Photo: Retina photo of a patient with Leber congenital amaurosis (LCA). Photo courtesy of National Eye Institute, National Institutes of Health