We recognized Rare Disease Day by welcoming several members of the patient communities we serve to our San Rafael site to learn about their journeys. It was an honor to host these individuals and deepen our understanding of their communities. Thank you to our guests for taking the time to connect with us.

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Meet PTPN11. This gene provides instructions to make the protein SHP-2, which plays a crucial role in cell signaling and helps control how cells grow, divide and move. SHP-2 informs the formation of the heart, bones, blood cells and other tissues, especially in development before birth. Changes in the PTPN11 gene can lead to various medical conditions, including Noonan syndrome. We’re committed to deepening our understanding of Noonan syndrome while working to bring forward new options for people living with this rare genetically defined condition.

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Thank you to Kristen DeAndrade, Founder and President of The Little Legs Big Heart Foundation, for moderating a truly insightful panel yesterday at The Boston Globe's first Rare Disease Summit. Kristen led an open discussion with Kate McLeod, who is a parent to a child with achondroplasia, and physicians Christina M. Jacobsen and Jennifer Arnold, both of whom care for people living with skeletal conditions.

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We’re excited to now be accepting applications for our annual RARE Scholars program for the 2025-26 academic year. This year, we’re proud to announce we're doubling our investment in this program to increase our support of exceptional students as they navigate their college journeys. Since 2018, RARE Scholars has provided financial support to U.S. college students living with rare conditions, including achondroplasia, Batten Disease, hemophilia A, MPS or PKU, who have demonstrated exceptional leadership and engagement in school and community activities. Applications will be accepted through March 28.

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