The HPS Network, a non-profit patient organization serving families affected by Hermansky-Pudlak Syndrome (HPS) added 48 new people with HPS to its registry between March 2017 and March 2018 as part of its Hundred People Search (H.P.S.) campaign. The HPS Network often assists families and their physicians access diagnostic testing, and provides education and other support services after diagnosis.
“We never want anyone to test positive for HPS,” says Heather Kirkwood, Director of Communications, “But if someone has HPS, we want them to get an accurate diagnosis and information they need to stay as healthy as possible. It can literally be a life and death matter.” The Hundred People Search campaign is a yearly effort to encourage members and friends of the HPS community to outreach in their communities to identify others who might need testing or access to other services.
HPS is a rare disorder, thus identifying 100 new patients in a year is usually not likely. Even so, statistically, there are still hundreds in the United States alone who are either not diagnosed, or are not benefiting from being part of the HPS Network patient registry.
“A lot of work is being done to identify better treatments and one day, a cure for HPS. As progress is made, we want to be able to find the people with HPS that would benefit. What good is working for a cure if you then can’t find the people who need it?” says Kirkwood.
If you have HPS, and would like to be included in the HPS Network’s patient registry, or you’d simply like more information about HPS, call: (516) 922-4022.
Dr. Lisa Young, Associate Professor of Pediatrics, Medicine and Cell Biology at Vanderbilt University, will give an update on the HPS Centers through the Rare Lung Disease Consortium, as well as about her lab’s research, March 11, 2018 at the HPS Network Conference.
Lisa Young, M.D., is a physician-scientist focusing on research in genetic and interstitial lung diseases (ILD). Dr. Young’s research lab utilizes both laboratory-based and patient-oriented research approaches to study interstitial lung diseases and other rare lung diseases in both adults and children.
Her lab’s primary interest is in the role of the alveolar epithelium and alveolar macrophages in the regulation of pulmonary inflammation and fibrosis. They utilize genetic mouse models to understand the cell biology and mechanisms of ILD pathogenesis. They also maintain a longitudinal research cohort of children with ILD and other rare lung diseases.
Currently her lab is looking at mechanisms of Pulmonary Fibrosis in Hermansky-Pudlak Syndrome (HPS) The lab’s studies utilize mouse models to understand what causes pulmonary fibrosis in HPS and how new therapies might be developed. Their hypothesis is that HPS trafficking defects in alveolar epithelial cells result in increased reactive oxygen species production and enhanced secretion of mediators, which recruit and activate alveolar macrophages in the local microenvironment. They also study how these mechanisms apply to other more common forms of ILD.
The HPS Network is waving registration fees for the 25th Annual HPS Network Conference, to be held March 9 – 11, 2018 at the Long Island Marriott in Uniondale, N.Y. for families that live in Puerto Rico and come to the conference. Registration fees include: meals from Friday dinner to Sunday lunch, childcare and conference materials. For more information call (516) 922 4022 or e-mail: firstname.lastname@example.org.
The HPS Network is grateful to our Capital Campaign donors who made this year’s campaign the most successful yet! Like most non-profits, the HPS Network mails an annual request for donations to help support our work. The response this year was the best ever. “There are not words enough to say thank you to our supporters. Their generosity is what makes it possible for us to keep helping families get an accurate diagnosis, to help families affected by HPS and to continue to drive research forward,” says Heather Kirkwood, Vice President of the HPS Network.
For the past year, in celebration of the 25th Annual HPS Network Conference, members have collected their silver in change jars at home, and at local businesses. Renee McEvoy, CFO of the HPS Network, is asking that everyone send in the revenue from their change jars now to start to pay Network bills for conference. Thanks to everyone who participated in this project!!!!
Oyster Bay, N.Y. The Hermansky-Pudlak Syndrome (HPS) Network will hold its 25th Annual Conference March 9 – 11, 2018 at the Long Island Marriott in Uniondale, N.Y. HPS is a type of albinism that involves low vision (usually legal blindness), a bleeding disorder, and in some cases, bowel disease very similar to Crohn’s disease. Depending on the gene involved, it may also cause pulmonary fibrosis or a scarring of the lungs. Although it occurs around the world in all ethnic groups, it’s most common among people of Puerto Rican ancestry.
The HPS Conference allows families affected by the syndrome to meet others as well as hear from the world’s leading experts on the syndrome. Sessions include both fun activities as well as serious topics on how to manage living with HPS. Some of the sessions include:
- Pre-conference workshop for mothers of children with HPS.
- HPS 101 – a overview of the basics of HPS for new families, or those that need a refresher.
- GI Wish I Felt Better – a chance for those affected with the bowel disease of HPS to hear about new research and network with peers.
- Managing the bleeding of HPS – a session presented by a hematologist familiar with HPS.
- Stand Up and Be Heard – an overview of legislative issues of importance to the HPS community as well as tips on how to get involved and be an advocate.
- Women’s Health – an overview of the unique medical issues experienced by women with HPS given by an OBGYN experienced in helping women with HPS.
- Social Aspects of Raising a Child with Albinism
- Information about preparing for lung transplantation
- A Top Chef-style cooking contest
- Zumba classes
- Information about Orientation and Mobility
Sunday’s program focuses on current research about HPS and includes speakers such as:
- William Gahl, Clinical Director of the National Human Genome Research Institute
- Kostas Alysandratos, a fellow at Boston University’s Center for Regenerative Medicine, who will speak about stem cell research.
- Lisa Young, an HPS researcher at Vanderbilt University, who will give an update on the growing number of HPS Centers as well as HPS research.
- Samuel Seward, one of the only physicians with a clinical practice for those with HPS, who will speak about the HPS Standard of Care.
To register or to learn about conference scholarship opportunities, contact the HPS Network at: (516) 922-4022 or e-mail: email@example.com.
The HPS Network is a 501(c)3 organization serving families affected by Hermansky-Pudlak Syndrome or HPS.
Part of the HPS Network team attending the American Thoracic Society (ATS) meeting in Washington DC in May joined members of the ATS to rally for issues of importance to patients with lung diseases on Capitol Hill.
Nancy Lee, board member of the HPS Network, Donna Appell, CEO and Founder of the HPS Network, Ashley Appell, Carmen Camacho, Frankie Feliciano, Candice Sipe, and Crystal Sipe teamed up with physicians from the ATS for meetings with Congressional representatives or their staff.
Issues discussed included funding for healthcare-related federal agencies to matters related to lung health research and environmental issues important to America’s lung health.
Nancy Lee and her team were able to meet directly with Sen. Ted Cruz from Texas.
Kids may dream about running away to be in the circus, but kids from the Hermansky-Pudlak Syndrome (HPS) community will get to learn some circus skills at the 25th Annual HPS Network Conference, to be held March 9 – 11, 2018 at the Long Island Marriott in Uniondale, N.Y. A team from the National Circus Project will be on hand at the kids’ portion of the conference to teach them various circus skills such as juggling and rope tricks.
The kids program includes children with HPS, as well as the kids of adults with HPS or kids of physicians presenting at the conference.
The HPS Network Conference is an annual event that brings together families affected by HPS for support, education, research updates and fun!
To learn more about the conference, or the HPS Network, visit www.hpsnetwork.org
Dr. Konstantinos D. Alysandratos, MD, PhD, will present on Science Sunday to the HPS community at the 25th Annual HPS Network Conference, March 9 – 11, at the Long Island Marriott in Uniondale, N.Y. His presentation will help us understand what different types of stem cells are, and how they might relate to current and future research on Hermansky-Pudlak Syndrome. He will be giving a more scientific presentation to Meeting of the Minds, an invitation-only HPS researcher meeting held the day before.
Dr. Alysandratos is a pulmonary and critical care fellow at Boston Medical Center. He also is part of the team at the Center for Regenerative Medicine at Boston University as part of Dr. Kotton’s lab. He is in the third year of his fellowship and is working on a stem cell model for the study of surfactant protein C mutations associated with childhood and familial pulmonary fibrosis. He received his Doctorate of Medicine from the University of Athens and embarked on his research journey after winning a competitive 3-year scholarship from the Hellenic State Scholarships Foundation. As part of his doctoral work under the mentorship of Dr. Theoharides at Tufts University, he studied the interplay between neuropeptides and cytokines in the pathogenesis of atopic dermatitis and their role on mast cell activation. He has also contributed to translational discoveries relating to mast cell activation in neurodevelopmental disorders such as autism spectrum disorders that may inform novel therapeutic approaches. Dr. Alysandratos completed his internal medicine training at UT Southwestern Medical Center, during which time he developed his passion for intensive and pulmonary care.
The HPS Network is looking for volunteers with HPS types 3 or 6 to participate in a hematology study. Participation involves having blood drawn and then shipped to the researcher performing the study. To learn more, contact HPS Network Medical Director Valerie Friedman at: firstname.lastname@example.org