Giving Tuesday

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Giving Tuesday 2020

Giving Tuesday 2020 is fast approaching!

The HPS Network will be participating in Giving Tuesday this December 1, 2020. We understand these are challenging times, but the work of finding a cure does not stop! This year, we have a new software to make fundraising easier. Donorview allows you to create your own personalized fundraising page to share on social media and off social media. We are having a Zoom meeting to discuss strategy. A recording of the meeting will also be available. For any further information, please contact Becky Nieves at bnieves@hpsnetwork.org  or Kristen Brantner at kbrantner@hpsnetwork.org.

Recall of nasal DDAVP

Ferring US issued a voluntary recall of DDAVP nasal spray 10 mcg/0.1 mL, Desmopressin Acetate Nasal Spray 10 mcg/0.1 mL, STIMATE Nasal Spray 1.5 mg/mL because of superpotency.
Superpotency can cause low sodium levels that could result in seizures, coma or death. If you keep these medications on hand to treat bleeding, please check with your pharmacy to see if they are in the batches being recalled.
To read the company’s press release, go to: Recall

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: Scholarship

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: RareArtist

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/