DSAA Moms enjoyed a great and informative night at the DSAA Mom’s April Event! Dr. Stephanie Sherman, a professor in the Department of Human Genetics at Emory University in Atlanta, spoke on genetic research and latest developments. Her training is in the area of genetic epidemiology and she has been involved in the coordination of multi-site projects to unravel the genetic architecture of complex traits and to understand potential gene-environment interactions. Currently, she is involved in research to understand the causes and consequences of Trisomy 21, or Down syndrome. She is also the co-Director of the Down Syndrome Center at Emory University.
NOTE: the genetic research discussed is NOT to eradicate Down syndrome or stop the triplication of the 21st chromosome during conception. It focuses on how to improve the lives of individuals with Down syndrome as well as understanding better the medical conditions that those individuals with Down syndrome are at a higher risk for (Alzheimer’s being an example).
Some highlights from our discussion:
MIT recently announced the $28.6 million gift from the Brazil-based Alana Foundation to establish the Alana Down Syndrome Center will combine the expertise of scientists and engineers in an effort to increase understanding of the biology and neuroscience of Down syndrome. The center and an associated technology-development program will work to accelerate the generation, development, and clinical testing of novel interventions and technologies into the disorder.
The National Institutes of Health has awarded $22.2 million in supplemental funding to bolster support for Down syndrome research ranging from basic to clinical. The investment is part of the INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down SyndromE) project, which was launched in June 2018 in response to a Congressional directive to develop a new trans-NIH initiative to investigate critical health and quality-of-life needs for individuals with Down syndrome.
“We have a unique opportunity to improve health outcomes for those with Down syndrome by increasing their inclusion in research,” said NIH Director Francis S. Collins, M.D., Ph.D. “People with Down syndrome are at risk for many of the same conditions as the general public such as Alzheimer’s disease, sleep apnea, heart disease, and autism, and it is my hope that this effort will provide meaningful insights to find treatments that benefit both populations.” INCLUDE’s research strategy is distinct in that it seeks to improve the health of people with Down syndrome, while simultaneously investigating the risk and resilience factors for common diseases shared with individuals who do not have Down syndrome.