YBRP at the 2018 World Orphan Drug Congress
The World Orphan Drug Congress has a key global meeting for dialogue and brainstorming about the challenges and opportunities of orphan drug development and navigating the rare disease environment.
Haim Farkash, Vice President & Director and Paula Tyson, Treasurer and Director of the Yellow Brick Road Project attended the 2018 8th Annual World Orphan Drug Congress in Oxon Hill, Maryland which drew renowned players in the industry from around the world coming together to discuss ideas and showcase how innovation can expedite rare disease research and bring therapies to patients faster, a key initiative of the Yellow Brick Road Project. Key topics included: expanded access programs, the advances in gene editing for rare diseases, who to partner with to launch orphan drugs programs, what is the benefit of genetic testing, etc. This conference brings together leaders from industry, patient advocacy community, researchers, government, & regulators.
Important connections were made and one on one meetings were held with companies such as PPALS, Amicus Therapeutics, NORD, Friedrich Ataxia Research Alliance, Invitae, Pfizer, Wuxinextcode, and CYDAN. The YBRP board members also participated in many sessions and round tables. Participating in the World Orphan Drug Congress allowed the YBRP board to further our mission by raising awareness of this new discovery in HNRNPH2 mutations to key players in the rare disease world, by furthering the development of important relationships with these organizations as we work towards our mission, and gaining the kind of knowledge that can only be gained from these kinds of experts.
YBRP / FDNA Partnership
The Yellow Brick Road Project has partnered with FDNA, a company with cutting edge facial recognition technology that can help identify individuals with rare disease. Faces of those touched by an HNRNPH2 mutation have been catalogued and added to FDNA’s database. This technology can speed along the long and tumultuous journey to diagnosis that so many have had to endure. The hope is that medical professionals will use the technology and with it direct patients, if indicated, to a geneticist QUICKLY, rather than exhausting every other specialist. On average it takes rare disease patients 7 years to reach final diagnosis. We can do better and FDNA is a company we stand behind for these reasons. Learn more at FDNA.com.
If someone you know is touched by a rare disease, and you have interest in contributing photos to help the database “learn” even further the facial similarities of those touched by rare disease, please visit www.Face2Gene.com. The more information we “feed” the system, the more accurately it will be able to identify other individuals with HNRNPH2 variants and other rare diseases.
YBRP / SPARK Partnership
YBRP are proud to partner with SPARK, Simons Foundation Powering Autism Research for Knowledge,’ because of a shared interest in expanding the use of Whole Exome Sequencing within the autism community. For SPARK this kind of genetic testing will “speed up research and advance (the) understanding of autism to help improve lives.” For The Yellow Brick Road Project, it will grow our number of cases because we know first-hand that many with an HNRNPH2 diagnosis, were given ASD diagnoses before their genetic variation was even detectable. We know more of our HNRNPH2 tribe reside in the autism community and we are eager to find them. Be on the lookout for upcoming video vignettes made by SPARK showcasing HNRNPH2 families who attended the 2018 Family Meeting.
If you know someone with a professional diagnosis of autism spectrum disorder, please share the link to SPARK, sparkforautism.org, who will provide free genetic testing to the individual and family.