EveryLife Foundation establishes RAREis scholarship fund

The EveryLife Foundation is accepting applications for their new undergraduate/graduate scholarship program called RAREis. To qualify, students must be at least 17 years old and enrolled in a two-year, four-year or graduate level college program. Students can be enrolled full time or part time. Applicants will need their physician to fill out a verification of diagnosis form, so don’t wait until the last minute to apply.

The program plans to award up to 32 scholarships of $5,000. The deadline for the application is Aug. 28, 2020 at 3:00 pm ET. To learn more, go to: https://everylifefoundation.org/rare-scholarship/?eType=EmailBlastContent&eId=c96224d5-9d91-4cfe-b4f3-54e3edb067b7#toggle-id-8

2020 Rare Artist Contest now accepting submissions

The 2020 Rare Artist Contest is open for business! Anyone connected to the rare disease community – patient, caregiver, friend, medical professional etc. – may enter the contest. There are different categories for children, teens and adults. Cash prizes are awarded and winners are invited to Washington DC when their work is displayed on Capitol Hill as part of Rare Disease Week. The goal of the contest is to generate awareness of rare diseases as well as celebrate the diverse talents in the rare disease community. To learn more about the contest, prizes or learn how to submit artwork, go to: www.RareArtist.org

New HPS gene identified

Researchers at the University of Bordeaux’s Molecular Genetics, Rare Disease, Genetics, Metabolism Lab report finding a new gene that causes the HPS type of albinism in the Journal of Genetics in Medicine. They found two individuals with the newly discovered gene, HPS 11.

The HPS 11 gene encodes to the protein complex BLOC 1. Other types of HPS that encode to protein complex BLOC 1 include HPS 7, 8 and 9. These are especially rare types of HPS with few known patients around the world.

Patient 1 is reported to be 20 years old and of French Flandish heritage. It appears patient one is a mild bleeder. Patient 2 is 39 years old and of Slovenian heritage. She has a more extensive bleeding history as well as a history of some infections. More study will be needed to determine with greater certainty which clinical features, besides albinism and a bleeding tendency, are associated with these rarer types of HPS.

Albismo Chile invites HPS Network to give presentation

Albismo Chile, the organization for families affected by albinism in Chile, invited Carmen Camacho to give a presentation about Hermansky-Pudlak Syndrome (HPS) to its members as part of International Albinism Awareness Day. “I was honored to be asked to give this presentation. They asked very good questions. I know that we have some allies in Chile,” said Carmen Camacho, who is also a board member of the HPS Network.
“It is exciting that more and more international albinism groups are asking the Network to give presentations about HPS. With technology, we can present anywhere there is a high-speed internet connection. It is so important that people in the albinism community are aware of HPS because as we get better treatments, we don’t want to leave anyone, anywhere, behind,” said Heather Kirkwood, VP and Director of Communications for the HPS Network.
If you would like to see Carmen’s interview, go to: https://www.youtube.com/watch?v=Zwyo5GOLsY8

HPS Network presents to Albinos Paraguay

As part of International Albinism Day, Albinos Paraguay invited the HPS Network to give a presentation about Hermansky-Pudlak Syndrome. As flying to Paraguay isn’t possible, Carmen Camacho and Nancy Lee, both members of the HPS Network board of directors, gave an online presentation. Carmen explained what HPS is and Nancy spoke about her experiences, including her double lung transplant. Albinos Paraguay recorded the presentation and shared it with the HPS Network. The presentation is in Spanish. If you’d like to see it, go to: https://www.youtube.com/watch?v=zQ6AtR7zrBg&feature=youtu.be&fbclid=IwAR0S2qqN-4auFpaoYOrrWMin_DqYMl3Ct0Pt9tR1BFhcWSVE8N4q8IxrGUE

Donna Appell profiled by Global Genes

Donna Appell, Founder and Executive Director of the HPS Network, was profiled by Global Genes for the month of June as a Rare Leader. The profile summarizes how Appell became interested in Hermansky-Pudlak Syndrome and how she started the HPS Network. The article also outlines the Network’s strategy and plans for going forward. It is a quick read, and a great way to gain a little insight into the Network if you are new or don’t regularly engage with us. Read the profile here: https://globalgenes.org/2020/06/04/308924/

HPS Network acquires donor management platform

The HPS Network has acquired a donor management platform, DonorView, as part of the grant award from CZI (Chan Zuckerberg Initiative). The platform will not only help us manage and communicate with our donors more efficiently, but it offers a variety of tools that will help us more efficiently communicate with membership on a wide variety of topics. It also offers fundraising tools that can be used by members and improved online registration for HPS Network events.

We will gradually roll out some of these changes as we learn this new system in the office. It is also very important to make sure the HPS Network has updated contact information to reach you including a current e-mail address, and a mobile phone number (if you would like to receive text alerts in the future.) Please send updated contact information to: info@hpsnetwork.org.

Appell speaks to Blue Cross/Blue Shield employees

Donna Appell, President and Executive Director of the HPS Network, joined two other panelists on a company-wide webinar for Blue Cross/Blue Shield as part of its Rare Disease Webinar Series: Patient and Family Perspectives.
Appell explained HPS to the audience, and then explained why covering genetic testing for HPS is so important. “I can’t know if it will make it easier for families affected by HPS to get tested, but I hope that we were heard, and maybe next time, when another family needs an approval they might just remember this talk.”

NORD offers Convid-19 financial assistance program

The National Organization for Rare Disorders (NORD), based in Washington DC, has launched a CONVID 19 Critical Relief Program for those with rare diseases. The financial relief program will help meet non-medical, yet critical, expenses. These expenses may include items such as: rent or mortgage expenses, unexpected utility expenses or emergency auto repair.
Eligible recipients could receive grants up to $1,000. To learn more, or to apply for the program, call: (203) 242-0497 or e-mail CONVID19assistance@rarediseases.org.

HPS Network partners with NIH to create symptom scale tool

Twelve people with HPS or their direct family/caregivers are taking part in focus groups to help refine an HPS symptom scale tool. The tool is a collaboration of the National Institutes of Health and the HPS Network. It will help quantify which symptoms of HPS affect one’s quality of life the most through the progression of the disorder.

While if one is living with HPS it might seem obvious which symptoms are most impactful in day-to-day life, it’s helpful for researchers to have data to back up what they are anecdotally told by the community.

The tool will reflect the input of people with HPS as well as caregivers for people with HPS from childhood to adulthood. It will also include input from any HPS gene types.

The focus groups are helping researchers refine the tool. Once that is done, they will survey the entire HPS community. It will be vital to have maximum participation of the community during this step to make the tool, and the data, is most useful to researchers. Be on the lookout for invitations to participate in this project.

The project will not only help move research, but in the future it may prove useful when seeking FDA approval for a therapy.