HPS Network and Broad Institute Form Genetic Testing Partnership

The HPS Network and Boston-based Broad Institute have formed a partnership to make genetic testing more available to families impacted by Hermansky-Pudlak Syndrome. The Institute is willing to provide free gene type testing to families in need, or who have not yet...

HPS Network Participating in the Million Dollar Bike Race

The Penn Medicine Orphan Disease Center (ODC) will host the 8th Annual Million Dollar Bike Ride on Saturday, June 12, 2021 to raise money for rare disease research. The Million Dollar Bike Ride brings over 750 cyclists and volunteers to Penn’s campus to ride either...

Pursue Your Dreams through the #RAREis Scholarship Fund

#Rareis Scholarship Fund- Deadline May 7, 2021 @ 3:00 p.m CDT The EveryLife Foundation for Rare Diseases is pleased to open applications for the second year of the #RAREis Scholarship Fund. Thanks to the support of Horizon Therapeutics plc, one-time awards of $5,000...

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2

Just the title of this Japanese article is intimidating, however, the information it contains is valuable. HPS type 2 can exhibit failure of the immune system to protect the body adequately from infection.  Type 2 like all other HPS types has ocular albinism (OCA)....

International Albinism Awareness Day is Sunday, June 13, 2021

International Albinism Awareness Day (IAAD) is on Sunday, June 13, 2021. This year’s theme and hashtag is #StrengthBeyondAllOdds. On this day, we would like to showcase how resilient and powerful those with albinism are. It is a day to share our voice, show our...