Welcome To Potocki-Lupski Syndrome Outreach Foundation
The PTLS Outreach Foundation is focused on awareness of this rare chromosome duplication, bringing about education to the healthcare and education providers, and supporting research.
Our mission is to increase public awareness, understanding and acceptance of Potocki-Lupski Syndrome (PTLS or Dup. 17p11.2) by providing information to families and caregivers of persons with PTLS, sponsoring research, and fostering partnerships with health care, education and other service professionals
In The News
Studies now starting!
Adults 17 years and older needed!
Since the first patient with duplication 17p11.2 was evaluated at Texas Children’s Hospital in 1996, we have had the opportunity to evaluate dozens of children with what is now called Potocki-Lupski syndrome. These clinical and laboratory evaluations have allowed us to publish several articles in the medical literature. These articles are easily accessible to physicians around the world so that they can become more aware of and learn about PTLS and thereby provide better medical and developmental care for children with this chromosomal duplication…..READ MORE……
Baylor College of Medicine professor of molecular and human genetics Dr. Jim Lupski was recently named the recipient of the 2014 Environmental Mutagenesis and Genomics Society Award for recognition of his landmark work characterizing human mutations and linking them to disease. The Society gives this award to one researcher a year for outstanding research contributions in the area of environmental mutagenesis and genomics. READ MORE
On April 9, 2013, a family member of one of our PTLS children decided to make yet another journey and hike a 2,650 mile hike on the Pacific Crest Trail, in honor of Potocki-Lupski Syndrome. As an uncle to a child diagnosed with PTLS and a wonderful supporter of the Foundation, Delaware Dave has shared his fantastic triumphs and beautiful photos from his journey. When asked as to why he walks, Delaware Dave responded with “it’s hard to put down in words something that is so monumental and all that this means to me. READ MORE
The Potocki-Lupski Outreach Foundation is officially here!!
It all began in 1991, when the first child in the United States was diagnosed with Duplication 17p11.2. Very little was known at the time, so many questions, so very few answers. In 1996 the duplication was first described as a case study. It was a week long study protocol held at Baylor College of Medicine, Houston, Texas. Then in 2000, the first study of the disorder was released in the Journal of Human Genetics. READ MORE…
This is a place where families, and those who support the family of one with PTLS (dup 17p11.2), can share information, experiences, ask questions, and be a part of a community who understands the journey they are on. This group is a secured group that complies with Healthcare Privacy (HIPAA) and personal privacy. Your personal email and information is not exposed, to protect your privacy, which will allow you to feel comfortable discussing important topics needed to help you and your child.
Events *** Summer 2017 Conference!!! ***
4th Annual Family Conference – Summer 2017!
* Come Meet the Doctors * Gain Valuable Information
* Meet Other Families * Ask Questions & Get Answers
You may also email us for the registration and information – firstname.lastname@example.org. For financial assistance, you may want to look into your local resources and organizations.
PTLS World Awareness Month
(March 8th, Awareness Day)
We want to thank everyone who came out and showed their support during this year’s World PTLS Awareness Month, and helping to make it a huge success. We want to give a big thanks to Natalie Hinkin, Fundraising Committee, for all her wonderful work in spearheading this year’s events. Thank you to All those who had individual fundraising events in their communities, and the corporate sponsorships.