On behalf of the fifteen member organizations of the Rare Bone Disease Alliance (RBDA), we are very excited to announce a new ancillary meeting that will be held during the American Society for Human Genetics annual meeting on Thursday, October 27, 2022 from 7:15pm-9:15pm. The meeting, Treatment of Rare Bone Diseases from Bench to Bedside, will be co-chaired by Dr. Carlos Ferreira (NIH/NHGRI) and Dr. Sandesh Nagamani (Baylor College of Medicine).
The widespread availability of genome-wide sequencing technologies, recent advances in “omic” methodologies, and novel methods to generate model organism systems have revolutionized our understanding of the genetic bases and the mechanistic underpinnings of genetic skeletal disorders. Nothing illustrates this better than the fact that over the recent past, we have had to continually update the nosology and classification of these disorders. Importantly, these discoveries have fostered a significant increase in clinical trials evaluating novel therapies for genetic skeletal disorders. We aim to highlight the power of collaborative research networks in developing endpoints and new therapies for genetic skeletal disorders and highlight some of the key clinical trials that have been conducted or are being conducted in children and adults with these disorders.
The two-hour program will feature a keynote address by Dr. Brendan Lee (Baylor College of Medicine) and include presentations on: Fibrous Dysplasia, Achondroplasia, Hypophosphatasia in Adults, and X-linked Hypophosphatemia.
Space is limited so register in advance to guarantee your seat!
**Attendees to this ancillary meeting must also be registered for the ASHG Annual Meeting. To do so, please visit: https://www.ashg.org/meetings/2022-annual-meeting/registration/**