RESEARCH STUDIES LOOKING FOR PARTICIPANTS
Request for US National Institutes of Health Funded - ClinGen Survey
Medical professionals are invited to participate in a survey being conducted by University of North Carolina (UNC) Chapel Hill to help us understand the tools and resources related to genetics that you and other professionals currently use. ClinGen is a National Institutes of Health (NIH)-funded initiative to build a resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
Those who complete the survey have the option to enter a drawing to win one (1) of twenty (20) $100 Visa gift cards.
There are three main sections: 1) questions about someone’s role (either medical professional, laboratorian, or something else), 2) familiarity with ClinGen, and 3) why someone does or does not use ClinGen.
The survey takes 15-20 minutes. It has been deemed Not Human Subjects Research by the UNC IRB. The data collected from the survey will only be used/reported on in aggregate.
Please contact unc_needs_assessment@clinicalgenome.org if you wish to participate in the survey.
Pregnancy-Associated Aortic Dissection Study
Researchers at UTHealth are studying the clinical and genetic risk factors that predispose to aortic dissections occurring during and up to one year after pregnancy. Identifying the genetic contribution and risk factors that increase risk for aortic dissection enables optimal treatment and management and in many cases, leads to prevention of dissection in at-risk family members.
Who is eligible to participate?
Anyone who has had an aortic dissection surrounding pregnancy (during and up to one year after pregnancy) is eligible to participate.
What is involved?
Genetic testing will be offered through this research study to people with no known genetic diagnosis. Individuals who have previously had genetic testing and were diagnosed with a condition, such as Marfan syndrome or Loeys-Dietz syndrome, may still participate. The study will involve review of participants’ medical history and medical records. No travel is required and there is no cost to participate.
Please contact: Alana Cecchi at alana.c.cecchi@uth.tmc.edu or 713-500-7072 for more information. This study is being conducted by Rana Afifi, MD, and Alana Cecchi, MS, CGC at UTHealth in Houston, Texas and is funded by a Temerty Foundation Research Award through GADA.
Neonatal Marfan syndrome
Participants needed for Neonatal Marfan syndrome study.
Neonatal Marfan Syndrome Study
Dr. Dianna Milewicz and Alana Cecchi at the University of Texas Health Science Center at Houston are looking for individuals with neonatal or infantile Marfan syndrome who are interested in participating in a research study looking at the medical complications of neonatal Marfan syndrome, including poor weight gain and appetite. Read More
The Aortic Dissection Collaborative issued two surveys in 2020, about the experiences with aortic dissection and with the COVID-19 pandemic. They heard from over 1,000 people, and share what they have learned from those who participated in the surveys.
Click the links below to watch the two community reports:
Final survey results from the aortic dissection community about healthcare experiences, challenges, and information sources
Thank you to those who participated in the Aortic Dissection Collaborative! Previous Reports to the Community can also be viewed on the Aortic Dissection Collaborative website.