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CIRM awards $1.5 million in lung health study for patients with Down Syndrome

Stock image of the Trisomy 21 chromosome

The California Institute for Regenerative Medicine (CIRM) recently awarded $1.5 million to Denise Al Alam, PhD, of the Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center to support research that aims to understand lung disease in individuals with Trisomy 21, also known as Down Syndrome.

Although Trisomy 21 affects multiple organ systems, respiratory complications are a major cause of death in both children and adults with this genetic condition. Dr. Al Alam’s project will use patient-derived pluripotent stem cells from ethnically diverse backgrounds to model alveolar defects inherent to Trisomy 21.

The study is poised to generate new Trisomy 21 cell lines to study defects specific to this condition. Researchers hope to uncover the genes and pathways associated with these defects, paving the way for targeted therapeutic approaches.

In California, about 667 babies are born with Down Syndrome every year, with the highest rate among Latinx infants.

“Respiratory complications are a significant cause of mortality in both children and adults with Down Syndrome. We are thrilled to support this research that aims to deepen our understanding of lung disease in individuals with Down Syndrome. This knowledge holds immense potential to intervene early and improve outcomes for those with this condition,” added Dr. Canet-Avilés.

Understanding lung disease in individuals with Trisomy 21 is crucial to improving outcomes for those living with this genetic condition. This innovative research project has the potential to lead to targeted therapeutic approaches and improve the quality of life for those affected by Trisomy 21.

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