Rare Disease Day Roundup: What's Happening in Your Neighborhood?

January 18, 2017

Dewey Marino from San Diego, California wrote to inform us about a golf tournament taking place on November 25th to benefit the DDX3X Foundation.
“In recognition of Rare Disease Day 2017, The Loma Club and the DDX3X Foundation ( invite our community to enjoy a day of golf at Liberty Station in San Diego, CA. There will be nine holes of golf starting at 12:00 pm. The tournament will feature a four player shamble format. In a shamble, all players hit their tee shots, then the best drive of the team is selected. From the spot of the selected tee shot, each player then plays his or her own ball until the conclusion of the hole. The two best scores (gross) of the foursome are added together to make the total team score. Lunch will be provided. The tournament will be held rain or shine. $75 per player suggested donation to participate in the golf tournament. All proceeds go directly to the DDX3X Foundation to fund research into discovering therapies to help people impacted by this rare disease. To reserve your spot, please indicate you will be attending. Space is limited to 36 people
The golf tournament will be followed by the second annual DDX3X Rare Disease Day Reception, featuring a raffle, silent auction, food, and a live band performance by Jerry’s Middle Finger, starting at 4:00pm. If you aren’t a golfer we hope you can come for the reception.”
Amy Zimmon of the Sanford Burnham Prebys Medical Discovery Institute wrote to let us know about an event at 10905 Road to the Cure, San Diego, CA 92121 happening on February 24th, 2017.  The “8th Annual SBP Rare Disease Day Symposium; Alagille Syndrome: New Research – New Hope” event is expected to bring in over 150 guests.
“Since its inception in 2010, the mission of the annual Rare Disease Day Symposium at Sanford Burnham Prebys Medical Discovery Institute (SBP) has been to serve patients and families affected by rare genetic diseases by offering direct access to leading medical researchers and clinicians in a collaborative setting.
The 8th Annual SBP Rare Disease Day Symposium at the Institute’s La Jolla campus on Friday, February 24, 2017 is the first scientific meeting focused on Alagille Syndrome (ALGS), a genetic disorder that causes liver, eye and skeletal abnormalities. ALGS occurs in more than 1 in 30,000 newborns. Better treatments are desperately needed—half of Alagille patients require a liver transplant before adulthood, and there are no therapies that address the underlying cause of this potentially fatal disease.
The goal of the 2017 SBP symposium is to bring together researchers studying Alagille Syndrome and related fields to foster new perspectives, ideas, and collaborations, which will accelerate efforts towards a cure.
While the focus of the symposium is on ALGS, the topics covered, including liver disease, genetics, regeneration, JAGGED1, and Notch signaling, are highly relevant to other diseases.
Expert talks at the 2017 meeting will provide emphasis on: 
• ALGS pathology 
• Biliary paucity
• Genetics
• Notch signaling 
• Biliary development/regeneration
Free registration for the day-long event, as well as speaker biographies and event information, are available on the symposium website:”
Jennifer Knapp is hosting events in three of the Lane County, Oregon’s Papa’s Pizza locations on February 28th, 2017. 
“Join our event to help bring awareness to rare disease and to learn how you can help bring positive change to the rare disease community. All are welcome! 
Our plan is to have those in the rare community at each of the three Papa’s Pizza locations in Lane County during the dinner hours. This will be both an informational and fundraising opportunity for the Lane County Rare Community. All fundraising proceeds will be shared to those signing up through Adrenal Insufficiency United. Email Jennifer ([email protected]) for more information
During lunch at the Coburg Road Papa’s there will be at least 30 minutes of FB live interviews during the lunch hours.”

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