Classic galactosemia results from impaired GALT activity, which limits a person's ability to metabolize galactose...but are there also other metabolic consequences of GALT deficiency? To address this question we applied an approach called metabolomics, which leverages the power of mass spectrometry to identify thousands of small molecules in a biological sample. Using metabolomics we analyzed plasma samples from 183 volunteers who have classic galactosemia (cases) and also 31 volunteers who do not have classic galactosemia (controls). By comparing the results from these samples we identified numerous pathways beyond galactose metabolism that are clearly perturbed in association with classic galactosemia. Recognizing these previously unappreciated consequences of GALT deficiency provides insight into mechanism and numerous potential new targets for intervention. To hear all the details and participate in the conversation please join us for this session.
In order to understand the bases of neurologic complications associated with GALT deficiency, we developed an in vitro neuronal model for classic galactosemia. We have generated induced pluripotent stem cells (IiPSC) from individuals with classic galactosemia and differentiated them into neuronal cultures in vitro. We are investigating the molecular and metabolic signature of these cells. By careful examination of these iPSCs and differentiated neurons, we aim to identify the differences in galactosemic neurons compared to control counterparts.
Are you interested in making connections with other parents and siblings of adults with galactosemia? Join this session to share your successes and challenges as parents and siblings of adults with galactosemia.
13-1030D Transitions - The 3 R’s of Transition to Adulthood: Responsibility, Regulation, Relationships
Regulation, responsibility and relationships are critical for a teen or young adult to develop to be successful in their journey to independence. This session will cover how to effectively support young adults with intellectual and learning differences and how to use evidence-based strategies in real world settings to create success in college, employment and independent living. We will discuss strategies to improve self-regulation including self-management, problem solving and handling change; will review teaching responsibility through self-advocacy, making choices and goal setting, as well as growing relational skills to socialize and relate positively to peers and employers.
Learn private financial and legal strategies that will coordinate and provide a desired outcome for your child and family. Explore how to obtain specific public benefits/resources and services designed for your high functioning child.