Since you registered with the HPS Network, have you updated us about your health history? Keeping us up to date on major developments helps us find you should there be a research development or opportunity that might be applicable to your situation. Have you, for example, learned your gene type? Have you developed any other health issues such as GI complications or lung disease? Have you developed other health issues you might assume are not related to HPS such as arthritis or Lupus? This also helps the HPS Network keep an eye on potential less common symptoms. If we see trends that exceed those in the general population, we are able to alert our researchers and ask if it is worth looking into further. Some types of HPS are rarer than others, and thus the number of people studied is smaller. It is likely there is still much we do not know. You can help by communicating with us about such information. To learn more, or to talk about updating your information, contact Valerie Friedman, Director of Medical Affairs, email@example.com.
Without research, we will never find better treatments, and someday, a cure for HPS. If you would like to participate in HPS research let us know you are interested. There may or may not be an opportunity currently that is the right fit, but it helps if we know you want to participate should the right opportunity come along. You can e-mail Valerie Friedman, Director of Medical Affairs and let her know you’d like to check in to see if there is the right opportunity for you. Her e-mail address is: firstname.lastname@example.org
Dr. William Gahl, Clinical Director of the National Human Genome Research Institute, Head of the Undiagnosed Diseases Program and Senior Investigator, Medical Genetics Branch at the National Institutes of Health, was awarded the Lifetime Achievement Award by the Hermansky-Pudlak Syndrome Network at its 25th annual conference in March, 2018.
Dr. Gahl started clinical research into HPS at the NIH back in the early 90s by first studying Ashley Appell, the index case for HPS. He then opened the Natural History Study of HPS to begin to understand how HPS symptoms developed over the course of a lifetime. Using data from this study, he opened a phase II clinical trial to study the use of Pirfenidone (Esbriet) to treat the pulmonary fibrosis of HPS in 1998. Later he opened a phase III study for Pirfenidone. His lab identified three of the 10 known genes to cause HPS.
Dr. Gahl has attended every HPS conference since the first conferences held in the Appell home. He and his lab have seen more HPS patients than anywhere else in the world at the NIH Clinical Center.
“We have been so blessed to have an investigator like Dr. Gahl in our corner all of these years,” says Donna Appell, Executive Director and Founder of the HPS Network, “I don’t know where we would be today without his dedication, insight, intellect and kindness.”
Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin’s McArdle Laboratories for Cancer Research in 1981 and served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH’s Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl’s research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane transporters that carry cystine and sialic acid, respectively, out of the lysosome.
Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, and neutropenia due to VPS45 deficiency. He has published more than 350 peer-reviewed papers and trained 36 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served one the board of directors of the ABMG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians.
Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards.
The HPS Network exhibited at the annual meeting of the New York Thoracic Society, held March 23-24, 2018 at the Westchester Medical Center in Valhalla, N.Y. Exhibiting at this event gives the HPS Network a chance to reach out to pulmonologists in New York to increase awareness of HPS, and to make them aware of the services the HPS Network can offer their patients. “It’s an honor to be at this event, and to support the New York Thoracic Society in any way we can,” says Donna Appell, Executive Director and Founder of the HPS Network. Donna, and her daughter Ashley Appell, manned the HPS booth at the event.
HPS Network Supports the 2018 FASEB Science Research Conference on “The Lung Epithelium in Health and Disease”
Oyster Bay, NY – The Hermansky-Pudlak Syndrome Network (HPS Network) donated $5,000 to the 2018 Federation of American Societies for Experimental Biology (FASEB) Science Research Conference on “The Lung Epithelium in Health and Disease.” The FASEB conference will be held, July 29 – August 3, 2018 in Olean, NY.
“We are delighted to be able to support the work of this conference, and the researchers who will be attending,” said Donna Appell, Executive Director and Founder of the HPS Network, “Understanding the lung epithelium better will help not only patients with Hermansky-Pudlak Syndrome, but those with other lung diseases as well.” Their work is vital to discoveries that will, hopefully, lead to better treatments, and someday cures, for all of us.”
The HPS Network is a 501c3 organization serving families affected by Hermansky-Pudlak Syndome or HPS. HPS is a type of albinism that involves not only low vision, but also a bleeding disorder. Depending on the gene involved, it can also cause digestive disease and pulmonary fibrosis. People with HPS types 1, 2, and 4 develop pulmonary fibrosis 100 percent of the time. The HPS Network connects families with diagnostic testing, provides education for both the patient and medical communities and supports research. Learn more at www.hpsnetwork.org
Becky Nieves and Sandra Ocasio, both mothers of someone with HPS, are organizing a fundraising project and they’d like your child’s help. They are creating a 15-page book, written and illustrated by kids with HPS, their siblings and the children of adults with HPS, about being rare. The books will then be sold as a fundraiser. They already have eight submissions, but would love to have more! If you and your child 12 or under would like to participate here is what you need to do:
- Ask your child to draw two or three pages portraying something rare about themselves. It could be HPS related, but it doesn’t have to be. It might be something they are good at doing, or a unique hobby. It would be great if the kids used pencils or crayons to create their drawings.
- Each drawing should have a text box, typed, that answers the question, “I am rare because…”
- Submit the drawings as PDF files to Becky Nieves at email@example.com
If you are not able to add the typed text box or scan your child’s artwork to make a PDF, you can mail it to: Becky Nieves, 9 Elbow Lane, Sicklerville NJ, 08081.
Please have submissions in by Sept. 1.
Friends and supporters of Amber Klein ate for the cure in May at Bertucci’s Italian Restaurant in Newark, DE. Bertucci’s is particularly known for its brick oven pizza. “We were really lucky that the restaurant, especially one of the waitresses, was so nice to us,” says Amber Klein, “It really helped make the event a success.”
Bertucci’s has locations in different parts of the country and all have a program to help non-profits raise money. Those interested in hosting a similar fundraiser need only reach out to their local manager and find a date on the restaurant’s calendar. Supporters bring in your event’s flyer and give it to their server. A percentage of their bill is then donated to your cause (the HPS Network, hint, hint). The more supporters that participate, the greater the percentage of their checks are donated. To learn more go to: http://www.bertuccis.com/Dining4Dollars
Blood and stool samples for five different protocols were collected within the span of two hours at the HPS Network 25th Annual Conference, held March 9 – 11 in Uniondale, N.Y.
“This project had several logistical challenges,” says Valarie Friedman, RN and Medical Director of the HPS Network, “We were able to work with our members, and the researchers, to overcome those challenges and make this happen.” People with HPS are visually impaired, and thus to ensure informed consent, consent forms needed to be produced in large print or read to potential participants. The second challenge was that the blood needed to be spun and frozen within a short time frame after collection.
Despite these challenges, 38 people submitted blood samples, four submitted stool samples, 96 tubes of blood were drawn and informed consent was obtained for all samples.
“How can I expect a cure if I don’t do anything to help accomplish that goal?” says Jessica Maldonado, one of the research participants. “I’ll do everything humanly possible to help the doctors, if not for me, then for those beautiful children in our HPS family.”
Congressmen Andre Carson (D-IN) and Ryan Costello, (R-PA) have introduced the Rare disease Advancement, Research and Education Act (H.R.5115) to the U.S. House of Representatives. The HPS Network has joined more than 100 other patient organizations and the National Organization for Rare Disorders, in support of the legislation.
The Rare Act of 2018 would:
- Increase rare disease research funding at the National Institutes of Health (NIH) by authorizing an additional $10 million each year for the Rare Disease Clinical Research Network (RDCRN)
- Create new efforts to track and combat rare diseases at the Centers for Disease Control and Prevention (CDC) by creating the “National Rare Disease or Condition Surveillance System”
- Educate physicians on rare diseases through new programs at the Agency for Healthcare Research and Quality (AHRQ), and,
- Commission additional research on how to better incentivize rare disease therapeutic development.
A person with Hermansky-Pudlak Syndrome (HPS) was the first person to receive a lung transplant at NYU Langone Transplant Institute, a newly opened transplant program in New York City.
Wanda Cepeda received her double lung transplant Feb. 10th. Cepeda had been turned down by other centers in the region.
“I had been fighting this disease for years, trying to stay healthy for my husband and our two daughters, but I was losing hope,” says Cepeda. “Dr. Angel was the first to say he wouldn’t turn me away. I’m so grateful for him and Dr. Kon—my dream team—for allowing me to hope again.”