Jul
13
11:00 AM11:00

13-1100F What Is Metabolomics And How Can It Help Us Understand Classic Galactosemia?

Judith L. Fridovich-Keil, PhD

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.

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Jul
13
11:00 AM11:00

13-1100D Transitions - The 3 R’s of Transition to Adulthood: Responsibility, Regulation, Relationships

Nancy Desando

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.

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Jul
13
11:00 AM11:00

13-1100C Are Neurons Different for People with Galactosemia?

Didem Demirbas, PhD

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.

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