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JRRP Investigator Publications: 2014

Posted on Thursday, December 18th, 2014, by with Comments Off

Your generosity helps us support families with aortic disease, identify new genes and pathways that cause this condition, and develop guidelines to improve the survival of patients. This year your support helped researchers from the John Ritter Research Program publish a total of 21 papers in peer reviewed journals, listed below. Thank you for your support.

1. MFAP5 Loss‐of‐Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet. 2014 Dec 4;95(6):736‐43.
2. Myh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity. J Biomech. 2014 Nov 1. pii: S0021‐9290(14)00552‐1.
3. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke. 2014 Nov;45(11):3200‐7.
4. Use of genetics for personalized management of heritable thoracic aortic disease: How do we get there? J Thorac Cardiovasc Surg.2014 Aug 5. pii: S0022‐5223(14)01043‐5.
5. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol. 2014 Aug 26;64(8):832‐9.
6. Aortic dilatation with bicuspid aortic valve. N Engl J Med. 2014 Aug 14;371(7):683.
7. Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). Circulation. 2014 Jun 24;129(25):2691‐704.
8. Essential Hypertension vs. Secondary Hypertension Among Children. Am J Hypertens. 2015 Jan;28(1):73‐80.
9. Cell biology. Dysfunctional mechanosensing in aneurysms. Science. 2014 May 2;344(6183):477‐9.
10. Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF‐β expression and connective tissue features. FASEB J. 2014 Aug;28(8):3313‐24.
11. Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament‐associated proteins in vascular smooth muscle cells. J Biol Chem. 2014 May 16;289(20):14075‐88.
12. Aortic Valve Operative Outcomes in Marfan Patients Study Group. Early and 1‐year outcomes of aortic root surgery in patients with Marfan syndrome: a prospective, multicenter, comparative study. J Thorac Cardiovasc Surg. 2014 Jun;147(6):1758‐66, 1767.e1‐4.
13. Molecular diagnosis in vascular Ehlers‐Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg. 2014 Jul;60(1):160‐9.
14. Vascular Ehlers‐Danlos syndrome: exploring the role of inflammation in arterial disease. Circ Cardiovasc Genet. 2014 Feb;7(1):5‐7.
15. Surgical treatment of bicuspid aortic valve disease: knowledge gaps and research perspectives. J Thorac Cardiovasc Surg. 2014 Jun;147(6):1749‐57, 1757.e1.
16. Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest. 2014 Mar 3;124(3):1329‐39.
17. Advanced atherosclerosis is associated with increased medial degeneration in sporadic ascending aortic aneurysms. Atherosclerosis. 2014 Feb;232(2):361‐8.
18. IL‐6 regulates extracellular matrix remodeling associated with aortic dilation in a fibrillin‐1 hypomorphic mgR/mgR mouse model of severe Marfan syndrome. J Am Heart Assoc. 2014 Jan 21;3(1):e000476.
19. Acute aortic dissections with pregnancy in women with ACTA2 mutations. Am J Med Genet A. 2014 Jan;164A(1):106‐12.
20. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends Cardiovasc Med. 2014 Feb;24(2):53‐60.
21. Single‐nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014 Jan;16(1):53‐9.


Georgia Man Promotes Importance of Knowing Family History to Prevent Aortic Dissection

Posted on Wednesday, January 29th, 2014, by with Comments Off

Tim Ealer’s father, George, passed away due to complications of an aortic dissection. Since then, Tim has learned that this disease can run in families. He spoke with a reporter about his dad and the importance of screening (aortic imaging) if you have a family history of thoracic aortic aneurysm and/or dissection. Watch the interview here:  Tim Ealer on 41 Today (NBC/WMGT).

Learn more here:  What Is Aortic Disease?


Aortic Disease Support Group Survey

Posted on Tuesday, November 12th, 2013, by with Comments Off

Many people contact the John Ritter Foundation for Aortic Health and the John Ritter Research Program  looking for support groups.  Unfortunately, very few currently exist. We would like to identify existing groups and facilitate new groups.  If you are interested in finding a support group or know of an existing group, please complete this survey which will be available through December 3, 2013:  https://docs.google.com/forms/d/1YO3sKI8Lu2V4z49kq-1fh4wfI-7XGAhaoFoM-4JmEWU/viewform


The 2013 Team Ritter ING NYC Marathon Team

Posted on Tuesday, November 12th, 2013, by with Comments Off

On November 3, twenty-two Team Ritter runners ran the ING NYC Marathon on behalf of the John Ritter Foundation for Aortic Health and earned Finisher medals.  Although this was not the first time some of the runners had completed a marathon, it may have been the most meaningful for them.  Why?  Because this race was only one milestone among many during their journey to the marathon.

Over the last five months, Team Ritter’s 2013 ING New York City Marathon running team has informed hundreds of people about thoracic aortic disease by sharing their stories at health fairs, during media interviews, at fundraising events, and by talking to anyone who would listen.  To date, they have raised over $114,000 so we can inform and educate the public and medical professionals about thoracic aortic disease, provide support to individuals and families affected by aortic disease, and fund research.  And they have done all this while training for a marathon!

We are very proud of this team.  Please join us in congratulating Team Ritter on a job well done!

 

2013 Team Ritter - ING NYC Marathon with Amy Yasbeck, Stella, and Jason Ritter

2013 Team Ritter – ING NYC Marathon with Amy Yasbeck, Stella, and Jason Ritter


 
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Team Ritter NYC Marathon runners raise aortic disease awareness, funds

Posted on Saturday, October 19th, 2013, by with Comments Off

HOUSTON – (Oct. 9, 2013) – Friends and family members of people with thoracic aortic disease and fans of the late legendary comedic actor John Ritter will come together as Team Ritter to raise funds for the John Ritter Foundation for Aortic Health (JRF) at the ING New York City Marathon on Nov. 3, 2013.

“We are so proud and grateful to again be one of the official charities of this year’s NYC Marathon and have the opportunity to raise much-needed funds for lifesaving research and education,” said actress, writer and aortic health advocate Amy Yasbeck, the widow of Ritter, who died from an acute aortic dissection in 2003. “Team Ritter runners are passionate about increasing awareness of aortic dissection and its risk factors and are committed to raising funds to support the JRF.”

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: www.crowdrise.com/TeamRitterINGNYCMarathon2013.

“The funds raised by Team Ritter will allow us to continue our genetic research to identify genes or altered DNA that increases someone’s risk for an acute aortic dissection. By identifying who is at risk, we can prevent premature deaths due to aortic dissections,” said Dianna Milewicz, M.D., Ph.D., director of UTHealth’s John Ritter Research Program. “It will also help us spread information to both physicians and the public about symptoms and genetic risk factors for aortic dissections, including the fact that this condition can run in families.” Milewicz is professor and George H. W. Bush Chair in Cardiovascular Research in the Division of Medical Genetics at the UTHealth Medical School.
Fundraising Websites – Crowdrise
Read more and meet the team:

(more…)


UTHealth Researchers Link PRKG1 Genetic Mutation to Thoracic Aortic Disease

Posted on Wednesday, August 7th, 2013, by with Comments Off

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…)


Paint & Sip for a Cause on April 13, 2013 in Saratoga Springs, NY

Posted on Saturday, April 6th, 2013, by with Comments Off

This is your chance to paint your own masterpiece and raise money to support efforts to increase awareness and genetic research on thoracic aortic aneurysms and dissections.  How cool is that?

This event will honor the memory of Cliff Klein and the positive impact he had on many people’s lives.  We thank Sarah Jurica for organizing this and for her support of the John Ritter Foundation.

Date:  Saturday, April 13, 2013

Time:  4:00 p.m. to 6:00 p.m.

Location:  Saratoga Paint & Sip Studio, 80 Henry Street, Saratoga Springs, NY  12866

Click here to register:  https://www.saratogapaintandsip.com/calendar/john-ritter-foundation-fundraiser/


3rd Annual Adler Paddler Stand Up Paddling Fundraiser

Posted on Monday, March 11th, 2013, by with Comments Off

The 3rd annual ADLER PADDLER will be held this Sunday, St. Patrick’s Day, March 17, 2013, at 9:00 a.m. at Leeway Beach in Long Beach, California.  Registration begins at 8:00 a.m.  The event is being held to remember Steve Adler and to raise funds and increase awareness for aortic disease, the John Ritter Foundation for Aortic Health, and the Thoracic Aortic Disease Coalition.

If you enjoy stand up paddling or prone paddling or just want to have fun supporting a worthy cause, come on out!  Boards will be available to rent on a first come, first served basis.

Space has been rented at the US Sailing Center, and there will be shelter and bathrooms this year…so the weather is bound to be perfect now that there is a back-up plan!

WHERE:  Belmont Shores, Long Beach Ca. (5437 E. Ocean Blvd., Long Beach)

WHAT:  A FREE 2.8 or 5.6 mile SUP & Prone Paddle Board Race around Naples Island (option to do one or two laps this year)  & a “FUN” paddle for those who just want to get in the spirit and celebrate Steve Adler!

Sources for more information:

Email:  info@PaddleWithPurpose.org

Website:  http://www.paddlewithpurpose.com/

Event poster:  http://paddlewithpurpose.files.wordpress.com/2013/01/3rdadlerpaddler-posterart.jpg

Video from 1st Annual Adler Paddler:  http://paddlewithpurpose.wordpress.com/2011/04/04/adler-paddler/


BioHouston to Honor Dr. Dianna M. Milewicz for Scientific Leadership

Posted on Thursday, November 8th, 2012, by with Comments Off

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!


Team Ritter to Run the 2012 ING New York City Marathon to Increase Awareness of Aortic Disease and Raise Funds for Research

Posted on Wednesday, October 3rd, 2012, by with Comments Off

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…)


 


 

 

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