Global Genes Team Collaborates with Homocystinuria Community and Researchers on Report

The Homocystinuria (HCU) community, Dr. Kim Chapman (Children’s National Rare Disease Institute), Dr. Mary Chapman (UPMC Children’s Hospital of Pittsburgh), and the RARE-X Data Collection Program (Global Genes) collaborated on a study published in Molecular Genetics and Metabolism Reports on August 14, 2023. This study came out of a data collection program through the RARE-X platform and focused on the significance of oral health in individuals with homocystinuria (HCU). 

“In rare disorders like Homocystinuria, there are often aspects of the disorder that are not identified but can have a high impact on daily life,” said Vanessa Vogel-Farley, Senior Director of Research and Data Analytics for Global Genes. “Studies like these enable the patients to bring forward these important things that affect their everyday life to make sure that they can educate themselves and the medical community.”

The research outlined in the Dental Complications in Homocystinurias case report examined data collected from the HCU RARE-X data collection program, from the area of the data collection program that focused on patient reported oral health issues. The study, conducted in 2022, employed descriptive statistics on a group of 27 participants with classic homocystinuria.

The study revealed that HCU patients show tooth structure differences and a potential risk of long-term gum disease,  possibly linked to osteoporosis/osteopenia rates. Neglecting oral health complications for those diagnosed with HCU could lead to incorrect referrals and improper treatments or therapies. Many individuals also exhibit malalignment and malocclusion of teeth. These results underscore the importance of addressing oral health as a crucial aspect of care for individuals with HCU, similar to the broader population. 

Christine Brown, Director, RARE-X Community Engagement for Global Genes, shared: “This is a powerful example of how patients participating in a data collection platform and sharing their experiences can lead to improving the quality of care for their community. ” 

For clinicians, this means being aware of oral and dental health when examining patients diagnosed with HCU. Patients should know that the more researchers learn from them, the more awareness there is about the variety of symptoms that may present. 

This study would not have been possible without the data that patients shared, but this is just the beginning. More data is needed in other areas, which can lead to similar outcomes for HCU and other conditions. 

View the complete report

Dental Complications in Homocystinurias
Kimberly A. Chapman, Children’s National Rare Disease Institute
Danae Bartke, HCU Network America
Vanessa Vogel-Farley, Global Genes
Mary Cobb, Global Genes
Mary Chapman, UPMC Children’s Hospital of Pittsburgh, Department of Pediatric Dentistry