2024 Informa Connect Rare Disease Innovation and Partnering Summit

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The 2024 Informa Connect Rare Disease Innovation and Partnering Summit is held this year between March 19th-21st. The summit will be a space that brings together organizations focused on rare diseases and orphan drug development with patient advocates, patient support/services, market access, and technological development. The summit is an opportunity to be exposed to new information and resources, discuss important issues and their solutions, and hear from patient’s voices that are driving drug discovery in the rare disease realm. 

If you're also looking to connect with industry representatives, nonprofits, patients, and vendors, the summit will be a chance to help improve the quality of life for members in the rare disease community through education and advocacy. Held in Philadelphia, the summit will also host relevant experts and multidisciplinary stakeholders, including the FDA, Rare Revolution, Cornerstone Pharmaceuticals, and more. Key topics will be covered, including "Rapid Fire Case Studies Directly from the Thought Leaders Innovating in the Rare Disease Space" presented by Rare Genomics co- founder and Sudo BioSciences CBO Dr. Imran Barbar, and "Combatting Mental Health Challenges within Rare Disease," featuring founder and CEO of Angel Aid, Cristol Barrett O’Loughlin.

Register for the conference here: https://informaconnect.com/rare-disease-summit/pricing/

Remember Undiagnosed Children’s Awareness Day

Undiagnosed Children’s Awareness Day was honored on April 30th, 2021 to increase awareness and understanding of the impact and prevalence of undiagnosed genetic conditions. SWAN UK (Syndromes Without A Name) hosted a Zoom meeting to commemorate the day and to discuss sequencing programs for undiagnosed families. Learn more about Undiagnosed Children’s Awareness Day here!

SWAN UK is the only dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK. It is run by the charity Genetic Alliance UK. SWAN UK aims to to support those affected by undiagnosed genetic conditions by developing services and raising awareness about the unique challenges faced by affected families. More details about SWAN’s mission can be found here: https://www.undiagnosed.org.uk/

Genetic Alliance UK offers information and support to families and individuals with genetic conditions, including concerning reproductive techniques, diagnosis, medical research, healthcare and access to treatments. Genetic Alliance’s website is located here: https://geneticalliance.org.uk/.

The Rare Genomics Institute (“RG”) salutes SWAN and Genetic Alliance’s efforts to increase global recognition, provide information and support for families caring for a loved one with an undiagnosed or rare genetic condition.

Undiagnosed Children’s Awareness Day is an opportunity for RG, SWAN, Genetic Alliance and the broader rare disease community to change the global discussion about rare diseases. You can be a change agent by joining us or otherwise supporting us now.

SWAN estimates 1 in 20 children are born with a genetic disorder and that 60% may not ever receive a diagnosis. Let’s work together to change that. Join RG to help families with undiagnosed genetic conditions and stay tuned for more information on next year’s Undiagnosed Children’s Awareness Day!

Rare Artist

Rare Artist is open for submissions until October 30th, 2020. Anyone connected to the rare disease community can submit artwork; including caregivers, patients, physicians, siblings, and friends. We have three different categories dependent on age, anyone who is ages 4+ can enter. You do not need to be a professional artist or hold any sort of credentials in order to enter into the contest.

RG Presents at 5th U.S. China Health Summit

We are proud to announce that RG’s China branch will be presenting as finalists at the Award Ceremony at the Young Leadership Forum of the 5th US-China Health Summit at Harvard University on Sept. 29. RG’s China branch was selected from more than 30 exceptional healthcare startup teams in the initial round of the 2015 Innovation Competition on the U.S. side, and together with additional teams selected from China, RG will join them to make a podium presentation at Harvard. The competition encourages young entrepreneurs to identify areas of unmet need and to develop innovative healthcare solutions- a perfect fit with RG’s mission! Read more about the Summit and the competition here: https://www.facebook.com/uschinahealthsummit