The anticipation felt by 14 families who travelled from different corners of the world was palatable at the first ever HNRNPH2 Family Meeting held on July 26th and 27th, 2018. The event was held at the Center for Autism and the Developing Brain; a beautiful space in White Plains, NY, which was donated to The Yellow Brick Road Project by New York Presbyterian, Westchester Division.
Dr. Wendy Chung, renowned geneticist, and Dr. Jennifer Bain, pediatric neurologist, who were responsible for composing the one and only scientific article ever to be published about HNRNPH2 mutations, were on hand at the event. Dr. Chung reviewed the most up to date understandings on the rare condition and Dr. Bain launched the HNRNPH2 Natural History Study they’ve spearheaded. A battery of tests was administered to those in attendance touched by the disorder. These assessments will lead to more publications about the pathogenic genetic condition and help to deepen the understanding of what occurs over the lifespan of an individual possessing an HNRNPH2 mutation.
Researchers studying HNRNPH2 mutations from the prominent St. Jude Children’s Hospital, Dr. Ane Korff and Dr. Hong Joo Kim, travelled from their laboratories in Memphis TN to attend. Each presented riveting preliminary findings in both cellular/molecular studies and mouse model studies that are already underway under the supervision of Dr. Paul Taylor. Dr. Korff expressed her excitement in attending the meeting and said, “Not only did I get invaluable information to help guide my research, I also found it incredibly motivating to meet the patients and their families. I was blown away by the passion and commitment of this amazing group of people to find a cure for their children.
Chris Adams from CYDAN, an Orphan Drug Company in Cambridge, MA with which YBRP continues to develop a relationship, was also in attendance and shared the CYDAN Model in accelerating the creation of drugs for rare disease. The big take-away from CYDAN: grow our numbers, so CYDAN can become more involved in studying possible therapeutics to help those with an HNRNPH2 mutation.
Other meaningful presentations were given by OTs, PTs, Sleep Experts, Social Workers and Special Needs Outreach Coordinator; all to benefit and empower the HNRNPH2 families. The only thing lacking was even more time to share; luckily, the next Family Meeting is already being planned. The gifts from Simons VIP and from the Parkchester Kiwanis Club in NY were gratefully received to help make the event the wonderful success it was. These kinds of sponsorships are needed as we journey on to The Yellow Brick Project mission’s end!