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rare disease day

Rare Disease Day 2021

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This Sunday, February 28th, is Rare Disease Day, all around the world!

Events will kick off Friday, February 26th, with the University of Minnesota’s virtual presentation: “Telehealth in Rare Disease Clinical Practice and Research: The Silver Lining Now and Beyond COVID-19“. Register for the program here.

Check out other events on the official website, rarediseaseday.org and look for more information from NORD (National Organization for Rare Disorders) and NIH (National Institutes of Health).

Patients, families, caregivers, and allies have an opportunity to raise rare disease awareness through participation in events and presentations, so join in and let your voice be heard!

Tell your story, get information about treatments and resources, and come together as a community dedicated to finding cures for rare diseases!

Follow Rare Disease Day on their official facebook, instagram, and twitter feeds!

World Sanfilippo Awareness Day – November 16th

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World Sanfilippo Awareness Day on Nov. 16 is about spreading awareness and sparking conversations globally about Sanfilippo Syndrome, a disease few have heard of. 

This special day of Awareness is in honor of the children around the world living with Sanfilippo Syndrome today, and those who have passed away.

It also honors the families of these precious children.  

It is a community-wide awareness day and not specific to any foundation or organization. 

Additional information, flyers, social media images, and more are available at https://curesanfilippofoundation.org/worldsanfilippoawarenessday/.

Announcing: Neurocognitive and Neurobehavioral Measurement in Mucopolysaccharidoses: A Master Class

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Presented by the National MPS Society and the University of Minnesota Division of Clinical Behavioral Neuroscience

Designed for doctoral-level psychologists, trainees, and psychometrists seeing MPS patients in clinical trials, this comprehensive course will provide a robust understanding and increased site readiness in response to the growing number of MPS trials. The Master Class will be held online and via live webinar Nov 12 and 19, with presentations geared to both those who are newly working in MPS and to those with expertise. Participants will have the opportunity to ask questions of world experts and to meaningfully connect with others in their field.

Master Class Faculty include world experts in MPS and cognitive assessment:

Elsa Shapiro, Ph.D.; Curriculum Development, Lead Faculty
Julie Eisengart, Ph.D.;  Site Educational Director, Lead Faculty
Paul Harmatz, MD; UCSF Benioff Children’s Hospital Oakland
Stewart Rust, D.Clin.Psy; Royal Manchester Children’s Hospital
Kelly King, Ph.D.; University of Minnesota
Heather Adams, Ph.D.;  University of Rochester Medical School
Kendra Bjoraker, Ph.D.; 3:1 Neuropsychology Consultants

Additional expert speakers include FDA representation and patient advocacy leaders

Qualified participants may register at no cost thanks to industry support through the National MPS Society. Interested attendees should apply by October 31st. Site PIs may use the same link to nominate psychologists.

Learn more at www.MPSMasterClass.com

2020 Virtual Fabry Family Education Conference

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The National Fabry Disease Foundation’s virtual Fabry Education Conference is being held on October 3-4, 2020. Primary attendees are individuals with Fabry disease, family members, and caregivers. Other attendees from clinics and support organizations are welcome and encouraged to attend. Please see the conference guide and the conference website at https://tie.link/fabry. Registration closes on September 27, 2020. For more information, please contact Jerry Walter at jerry.walter@nullfabrydisease.org.

WORLDSymposium 2020

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16th Annual WORLDSymposium is February 10 – 13, 2020 in Orlando, Florida, USA. This symposium is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances.

2019 AGSD Patient / Family / Professional Conference

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SEPTEMBER 20-21, 2019 IN HOUSTON, TEXAS, USA

Join the Association for Glycogen Storage Disease for their 41st Annual Patient/Family/Professional Conference for those affected with GSD, their families, and medical professionals involved in treatment or research of any type of GSD. The focus of this annual conference is meeting other people and families affected by GSD, gaining a better understanding of the GSDs and their implications, and learning about the latest research findings and upcoming studies.

The 2019 AGSD Patient/Family/Professional Conference will convene at the Hilton Houston NASA Clear Lake, and August 30, 2019 is the deadline for the special AGSD Conference room-rate of $109/night + taxes. Conference registration is now active. After August 30th, a late fee of $50.00 will be added to all conference registrations. Hotel reservations are attendees’ responsibility. The hotel parking fee is waived. Please call the Hilton Houston NASA Clear Lake at 1-866-577-1156 to make your reservation. You must identify yourself as part of the “AGSD Annual 2019 Conference” to get their discounted rate by the August 30th deadline.

If traveling by air, Hobby Airport [HOU] is the closest airport to the conference location. There is no free airport-shuttle offered by the hotel.

The AGSD Conference costs include the registration fee and the meal costs for Friday evening dinner and Saturday lunch. The Saturday evening dinner and entertainment is provided free for all conference registrants. The 1-mile Fun Run/Walk will be held at the completion of the Conference on Saturday; Fun Run/Walk registration is now open. The Fun Run/Walk is the main fundraiser for the Association for Glycogen Storage Disease this year, and participants are encouraged to enroll sponsors of their run/walk (pledge sheets are available). For further information about the Fun Run/Walk, please contact Jessica Knepler (or by phone at 815-483-1244).

Rare Patient Advocacy Summit

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SEPTEMBER 18-20, 2019 IN SAN DIEGO, CALIFORNIA, USA

Global Genes® ‘RARE Patient Advocacy Summit‘ gives rare disease stakeholders the opportunity to connect and learn through educational sessions and networking opportunities. Attracting more than 800 attendees, it is the largest gathering of rare disease patients, advocates and thought leaders worldwide. This year’s summit convenes at Sheraton San Diego Hotel & Marina.

Online registration is available now. The final deadline for a discount on the registration cost is July 31, 2019. Exhibitors can book their booth space now. Contact Global Genes® for answers to your exhibiting questions.

The National Fabry Disease Foundation’s Annual Fabry Family Camp

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SEPTEMBER 6-8, 2019, AT VICTORY JUNCTION CAMP IN RANDLEMAN, NORTH CAROLINA, USA

The National Fabry Disease Foundation’s 2019 Fabry Family Camp will convene at Victory Junction Camp. Victory Junction Camp is part of SeriousFun Children’s Network (SFCN), an alliance of 9 camps nationally, and 30 camps worldwide, that serve children dealing with serious medical conditions and chronic illnesses. Victory Junction Camp is certified by SeriousFun, which provides strict guidelines on camper care, financial competency, and program innovations.

Families with children who have Fabry disease between the ages of 6-16 (called primary campers) are invited to attend this awesome expense-free adventure. With at least one primary camper, the entire immediate family (primary campers and their parents and siblings) is eligible to participate. The National Fabry Disease Foundation provides airfare, lodging and meals.

There is a multi-step application process to be completed, for those who wish to attend. Phase 1 of the application process has already started. The starting point (application process Phase 1) is the same whether you are a family applying to attend both the Fabry Family Camp and Fabry Family Education Conference; a family or individual applying to attend the Fabry Family Education Conference only; or you are an individual submitting an application to support Fabry Family Camp as one of their awesome volunteers. Don’t delay, contact Jerry Walter at 800-651-9131 or by e-mail: Jerry Walter at The National Fabry Disease Foundation.

The National Fabry Disease Foundation’s Annual Fabry Family Education Conference

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SEPTEMBER 5-6, 2019, IN GREENSBORO, NORTH CAROLINA, USA

The National Fabry Disease Foundation‘s 2019 Fabry Family Education Conference is held just prior to their annual Fabry Family Camp (see below). All individuals with Fabry disease and family members are welcome to attend. Attendees do not have to be attending Fabry Family Camp to attend the Fabry Family Education Conference. The Conference will convene at Embassy Suites by Hilton Greensboro Airport, 204 Centreport Drive, Greensboro, North Carolina, 27409 (situated 10 minutes from Piedmont Triad International Airport, with an airport shuttle).

The Conference’s informal activities are held on Thursday, Sept. 5th, including exhibit tables, research study and survey opportunities, a welcome dinner, and other activities. Educational talks by experienced Fabry physicians and others are provided all day Friday, Sept. 6th. While adults are attending the educational talks, kids and teens are engaged in activities facilitated by a team of contracted nannies and tutors, as well as a chat session facilitated by an awesome team of genetic counselors, nurses and social workers, holding age-appropriate discussions about living with Fabry disease. The groups are divided by age, and by affected or non-affected status. The unaffected sibling chat sessions are equally as important as the chat sessions for affected children. (These chat sessions are reportedly a highlight of the Conference, especially for teens!)

For individuals who need assistance to attend, the National Fabry Disease Foundation (NFDF) may be able to provide airfare, lodging and most meals, depending on available financial resources. There is a multi-step application process to be completed, for those who wish to attend. Phase 1 of the application process has already started. The starting point (application process Phase 1) is the same whether you are a family applying to attend both the Fabry Family Camp and Fabry Family Education Conference; a family or individual applying to attend the Fabry Family Education Conference only; or you are an individual submitting an application to support Fabry Family Camp as one of their awesome volunteers. Don’t delay, contact Jerry Walter at 800-651-9131 or by e-mail: Jerry Walter at The National Fabry Disease Foundation.

10th Annual Rare Disease Scientific Workshop Conceptualizing a Rare Disease Center of Excellence at the FDA

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The EveryLife Foundation convened its 10th annual Rare Disease Scientific Workshop, titled “Conceptualizing a Rare Disease Center of Excellence at the FDA,” in Washington, DC on Sept. 13, 2018. The goal of the workshop was to gather key thought-leaders from industry, the Food and Drug Administration (FDA), and patient organizations to discuss potential models, best practices and the pathway forward.

Senior-level officials from the FDA and National Institutes of Health (NIH) presented, along with representatives from industry and patient advocacy organizations. The video of this event, arranged in discrete, consecutive-speaker-order, is available online now.