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John Ritter Research Program for Genetic Testing


Have you or a loved one been diagnosed with a thoracic aortic aneurysm or dissection?


If you or your loved one has, the John Ritter Research Program would love for you to take part in a research study.


Additional information regarding the information below may be found by clicking here.


"Doctors and scientists have only identified about 20% of the genes that cause aortic aneurysms and acute aortic dissections to be inherited in families. Furthermore, studies are just beginning to look at the role of genetics in patients who have had an aortic dissection but do not have a family history.


Dianna Milewicz, M.D., Ph.D., Director of the John Ritter Research Program in Aortic and Vascular Diseases with the University of Texas Health Science Center, is an internationally recognized expert in the genetics of aortic and vascular diseases. She is working with a team of clinicians, scientists, and genetic counselors in a number of ongoing research studies. These research studies aim to learn more about the genes that cause people to have aortic aneurysms and acute aortic dissections. Further identification of the genes that cause people to have these conditions will increase our ability to identify who is at risk and provide information on how to better diagnose and manage aortic and vascular diseases.


We need your help. If you have been diagnosed with a thoracic aortic aneurysm or dissection, or have a family member with this condition, please contact us to take part in our research study.


To learn more about our ongoing studies, please contact our genetic counselor by email (JRRP.research@uth.tmc.edu ) or through the “Contact Us” page {in the link provided above}. The genetic counselor will explain the study to you, review your family history, and help you enroll in the research study that you qualify for.


What will be required from you to take part in our research?


We need the following for our research studies. Note that you can take part in our research studies without ever leaving home. Taking part in our research studies will take approximately 30-60 minutes.


  1. A DNA sample. We ask for a saliva or “spit” sample from anyone who wants to take part in our study. From your saliva sample, we can get DNA that will be used in our genetic studies. We will send the saliva kit with the consent forms to your home, and all you need to do is fill out the consent forms and “spit” into the cup, and then mail these back to our laboratory. In some cases, we may request a blood sample (approximately 2 tablespoons) from you and arrange to have your blood drawn at your doctor’s office.

  2. Medical Records. We will also be requesting copies of your medical records, specifically those records describing your history of aortic aneurysm or dissection, for example imaging reports (echocardiogram, CT and MRI reports) and hospital and surgical reports for any aortic, heart or vascular problem. If you do not have copies of your medical records, we will ask you to sign an authorized release of medical information form that allows us to ask for those records directly from your physician.


Frequently Asked Questions about Taking Part in Research


  1. Does everyone in my family need to take part? No. While it is helpful to have as many individuals from the same family as possible, take part in research is an individual decision and completely voluntary. We would prefer at least one member of the family who has experienced aortic disease to be a part of the study so that we can study his/her DNA for genes that cause aortic disease.

  2. What if the people with aortic disease in my family have passed away? We still welcome families to take part in research even if the individuals in the family with aortic disease are deceased. Surgical specimens and medical records are stored for individuals long after they have died and in most cases, can be obtained. In addition, children, siblings, and parents of deceased individuals share DNA with other family members and can be used to help find out the gene involved.

  3. Will my identity be kept confidential? All of our research is conducted under the strictest confidentiality. The information and samples of those taking part are identified in research records by a code number. All samples are stored and studied according to the code number and only a few authorized personnel in the research team will know your name. You will not be personally identified in any reports or publications that may result from this study. However, there is a very slight risk that in spite of confidentiality precautions, your genetic information might be inadvertently disclosed to unauthorized third parties.

  4. Can my children participate? Yes, children may take part in the study. Children under the age of 18 will need to give assent to take part in our research as well as the permission of a parent or guardian to take part.

  5. Will I receive results from any genetic testing done as part of the research study? If the genetic mutation causing a predisposition to aortic aneurysms and/or dissections in your family is identified, we will notify you by telephone or mail. Genetic counseling will be provided to you and your family members free of charge to explain these results. The results will be provided to you and any physician you authorize to receive your results as research results and should not be used for making clinical decisions until they have been confirmed by a clinical (CLIA-approved) laboratory. We will provide you with the information to have your results confirmed by a clinical laboratory.

  6. Do I have to travel to Houston or make an appointment to take part? No. You can take part in research without leaving your home. Learning about the study and consenting to take part in the study can be done over the telephone with one of our genetic counselors. Sample kits will be mailed to your home, along with a prepaid return envelope. You will not need to make an appointment of any kind to take part.

  7. Does it cost anything to take part? No. It does not cost anything to take part in our research studies, nor are individuals paid for taking part.

  8. Will you find the gene that is causing aortic dissections to run in my family? We may not identify the gene causing aortic disease in your family. We currently know the genes that cause aortic dissections in 20%, or 1 out of 5 families. That means for the other 80%, or 4 out of 5 families, we are still working to identify the genes that cause aortic disease in these families. It is through research in families with aortic aneurysms and dissections that we can identify more genes and be able to provide information to individuals and families in the future.

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