ACTA2 mutations are responsible for disease in approximately 20% of families with thoracic aortic aneurysms and dissections(TAAD). Dr. Milewicz directs the John Ritter Research Program and her research group identified ACTA2 as a gene that causes TAAD in 2009. The Milewicz group has now published an analysis of clinical data collected from a large group of people (close to 300) who have ACTA2 mutations. This information is important in medical management of patients with ACTA2 mutations. The publication can be accessed by clicking on the article “Aortic Disease Presentation and Outcome Associated with ACTA2 Mutations” available here.
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HOUSTON – (Aug. 7, 2013) – A multi-institutional team led by Dianna Milewicz, M.D., Ph.D., of The University of Texas Health Science Center at Houston (UTHealth) has found a recurrent genetic mutation that has been linked to deadly thoracic aortic dissections in family members as young as 17 years of age.
The gene known as PRKG1 makes a protein called cGMP-dependent kinase, type I. The PRKG1 mutation alters the function of the protein and causes the muscle cells in the wall of the aorta to respond incorrectly to pulsatile blood flow from the heart, and the change in this one protein ultimately causes thoracic aortic aneurysm and acute aortic dissection. The mutation was identified in four families, including three in the United States. The majority of the affected family members suffered acute aortic dissections at young ages (17 to 51 years). (more…)
Research on the genetics of bicuspid aortic valves (BAVs) is underway at the John Ritter Research Program in Aortic and Vascular Diseases at the University of Texas Health Science Center at Houston (UTHealth). Led by Dr. Siddharth Prakash, the research team aims to determine the mechanisms and cardiac complications of BAV disease.
If you have questions or are interested in participating, more information is available here or by contacting the Study Coordinator, Josephine Turner (Josephine.A.Turner@uth.tmc.edu). Patients can refer themselves for the study; it is not necessary to be referred by a physician.
The John Ritter Foundation for Aortic Health is excited to announce an online gallery of original artwork created by John Ritter’s family and friends: http://fromtheheartgallery.com/home.html. Amy Yasbeck’s sister, Ann Reece, is one of the featured artists.
Twenty percent of the sale proceeds will go to the John Ritter Foundation to support education on aortic disease and research on the genetic basis of thoracic aortic aneurysms and dissections.
If you would like to be considered as a featured artist, please contact the gallery through its website: http://fromtheheartgallery.com/contact.html.
The John Ritter Foundation is a collaborative partner of the John Ritter Research Program in Aortic and Vascular Diseases. We thank the Foundation for providing financial support for our research on the genetic basis of thoracic aortic aneurysms and dissections.
Dianna M. Milewicz, MD, PhD, Director of the John Ritter Research Program in Aortic and Vascular Diseases and holder of the President George H.W. Bush Chair of Cardiovascular Medicine at the University of Texas Health Science Center at Houston, will be honored on Wednesday, November 14, 2012 by BioHouston at its Fourth Annual Lunch Celebrating Women in Science.
To be held at the River Oaks Country Club in Houston, TX, the luncheon also will honor Dr. Lydia Kavraki, Rice University; Dr. Renu Khator, University of Houston; and Sara Ortwein, ExxonMobil Upstream Research Company.
The four will be celebrated for demonstrating “extraordinary leadership in science and technology.”
The mission of BioHouston is to “create an environment that will stimulate technology transfer and research commercialization, thereby generating economic wealth for the Houston region and making it a global competitor in life science commercialization.”
Registration deadline is Friday, November 9 at 3:00 p.m. Central time.
Congratulations, Dr. Milewicz!
The second annual Sofia Gutierrez Brain Aneurysm Awareness Fund Raiser Event will be held from 11 a.m. – 8 p.m. on Saturday, November 10, at the Orange Park Mall in Orange Park, Florida (20 miles south of Jacksonville). Here is the very touching story of the Gutierrez family’s motivation to find answers about cerebral aneurysms: Family warns parents about condition that killed daughter.
The event will benefit the John Ritter Foundation for Aortic Health, and all funds raised will go to the Sofia Alejandra Gutierrez Brain Aneurysm Research Fund to support research the John Ritter Research Program in Aortic and Vascular Diseases (JRRP) at the University of Texas Health Science Center at Houston (UTHealth) is doing on the genetics of cerebral aneurysms. The Director of the JRRP, Dianna M. Milewicz, MD, PhD, will attend and be available to answer questions about the genetics of cerebral and other vascular aneurysms.
The event will feature the Clay County Fire Department, Shands Hospital Trauma One Helicopter, bounce houses, live entertainment, silent auction, door prizes, vendors, and much more.
If you’re in the Orange Park area and looking for something fun for the family to do, come on out!
Team Ritter to Run the 2012 ING New York City Marathon to Increase Awareness of Aortic Disease and Raise Funds for Research
Actor Tyler Ritter; Watkins Little, the “Ridiculously Photogenic Guy;” thoracic aortic disease survivors and an aortic surgeon will be among the 15 Team Ritter runners dedicated to raising money for the John Ritter Foundation for Aortic Health (JRF) at the ING New York City Marathon on Nov. 4, 2012.
Funds from the NYC Marathon raised for the JRF will go to the John Ritter Research Program in Aortic and Vascular Diseases (JRRP) at The University of Texas Health Science Center at Houston (UTHealth) to support research to identify genetic risks for aortic dissections. To donate, visit Edward Norton’s Crowdrise online fundraising community: http://www.crowdrise.com/TeamRitterNYCMarathon2012/fundraiser/johnritterfoundation.
Read the press release here: http://www.uthouston.edu/media/story.htm?id=6dae1471-9736-49a6-bd12-d51bdb74c517
Meet the runners of Team Ritter: (more…)
Thanks to a cousin’s warning that thoracic aortic disease ran in their family, Houstonian Pat Arthur discovered that he carried a genetic defect that could cause his aorta to dissect and rupture with little or no warning. He also learned that this particular defect resulted in an aggressive form of the disease and the growing aneurysm spotted with a scan needed to be surgically corrected sooner than later.
It was life-saving information.
Now a new clinic devoted to integrated care for aortic disease is able to merge personalized genetic information with clinical care at The University of Texas Health Science Center at Houston (UTHealth). (more…)
Gene Defect for New Syndrome Discovered – Systemic Complications Include Life-threatening Thoracic Aortic Disease
HOUSTON – (July 9, 2012) – Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome. (more…)
Doctor Radio is going to focus on aortic dissection this Friday, May 25, 2012. The program airs on Sirius XM from 6:00 – 8:00 a.m. Eastern time. Two NYU surgeons will be interviewed, followed by National Marfan Foundation President and CEO Carolyn Levering (at 7:00 a.m.), and then Dr. Dianna Milewicz, professor and director of the John Ritter Research Program at The University of Texas Medical School at Houston, and Amy Yasback, founder of the John Ritter Foundation (at 7:30 a.m.). Set your alarm and tune in! http://www.siriusxm.com/doctorradio