Meet the Researchers:
Global Down Syndrome Foundation provides information about Research & Medical Care
Assisted Cycle Therapy for Adolescents with Down Syndrome
Arizona State University, Sensorimotor Development Research Lab, Program of Kinesiology: A study in adults ages 27-60 yrs old with Down Syndrome, investigating the effect of a stationary cycling exercise program on motor, cognition, physical, and mental health outcomes. If interested, contact Dr. Shannon Ringenbach, ASU, firstname.lastname@example.org. Learn more.
Known as DSRG, they are a group of world-renowned researchers and UA students led by Dr. Jamie Edgin and Regents Professor Lynn Nadel (who has been recently been awarded the International Sisley-Jerome Lejeune Award for 2013 for his work on Down syndrome) in the University of Arizona (UA) Department of Psychology, Cognitive Science Program, and Sonoran Center for Excellence in Developmental Disabilities. The DSRG’s goal is to better understand cognitive and behavioral outcomes in individuals with Down syndrome so we can best guide treatment approaches. Learn more.
Landmark Study “Turns off” the Chromosome That Causes Down Syndrome.
A landmark study was published July 17, 2013 in the scientific journal Nature that directly relates to the worldwide Down syndrome community. According to the paper, scientists at the University of Massachusetts Medical School have established that it is possible to silence the expression of most of the genes on the third copy of the 21st chromosome that causes Down syndrome. This finding opens multiple new avenues for translational scientists to study Down syndrome in ways not previously possible.
“It’s a strategy that can be applied in multiple ways, and I think can be useful right now,” says Jeanne Lawrence, a cell biologist at the University of Massachusetts Medical School in Worcester, and the lead author of the study. The findings promise to improve scientists’ understanding of the basic biology underlying Down syndrome, which could, someday, lead to therapeutic applications in humans.
Research on Learning in Children with Down Syndrome in Denver at the National Down Syndrome Congress
The DS360 network is hoping to include individuals with Down syndrome in an important research study during the NDSC Convention in Denver in July. Funded by the RDS and DSRTF, this Down Syndrome Cognition Project study uses the Arizona Cognitive Test Battery (ACTB) to assess cognitive function in relation to health factors and genetics in children with Down syndrome. Stop by the DS360 or Research Down Syndrome booth at the conference to learn more about this nation-wide, multi-center study.
The Psychology Department at the University of Arizona is looking for volunteers in a study on Down syndrome. Participants will be compensated for their time. If your child has been diagnosed with Down syndrome and is between 7 and 17 years of age, and you would like to obtain more information about the study, please call 520-626-0244 or write an email to email@example.com They will be in Denver and testing can occur during the conference times.
Current Research Participation Opportunities in Arizona
“Roche’s Clinical Trial of an Investigational Drug, RG1662″
In 2011, Roche initiated an early-stage clinical trial, to test an investigational drug in individuals with Down syndrome and hosted an informational dinner for Down Syndrome Network in 2012. The goal of the trial is to evaluate its tolerability and obtain an early reading of its effect on the cognitive and behavioral deficits associated with this condition. “This was very big news for DSRTF last year and represents a very exciting development in the field of Down syndrome cognition research,” says Dr. Michael Harpold, Chief Scientific Officer of DSRTF and Chair of the Scientific Advisory Board. The first stage of this clinical trial involves individuals with Trisomy 21 who are between the ages of 18-30 and live near one of the eight trial locations around the country. The study lasts approximately 16 weeks. During the study, the heart rate, EEG, and laboratory parameters of safety of the participants are monitored very closely, and parents are involved with tracking physical and any emotional/cognitive changes. Updates on this trial will continue to be provided on clinicaltrials.gov.
“Assisted Cycle Therapy for Adolescents with Down Syndrome”
Arizona State University, Sensorimotor Development Research Lab, Program of Kinesiology:
A study in adolescents ages 13-21 yrs old with Down Syndrome, looking at the effect of a stationary cycling exercise program on motor, cognition, physical, and mental health outcomes. If interested, contact Dr. Shannon Ringenbach, ASU, 480-965-3280.
“Measuring memory in Down Syndrome”
The University of Arizona, Down Syndrome Research Group: one session of memory testing in individuals with Down syndrome ages 11-30 yrs. If interested, contact Dr. Jamie Edgin, U of A, 520-626-0244, or firstname.lastname@example.org.
“Study of Sleep Apnea and Cognitive Outcome in Down Syndrome”
The University of Arizona, Down Syndrome Research Group: A study in individuals with Down syndrome ages 7-25 yrs, to determine the relationship of sleep apnea and cognition in Down syndrome. If interested, contact Dr. Jamie Edgin, U of A, 520-626-0244, or email@example.com.
“The effect of biological factors in health in Down syndrome”
The University of Arizona, Down Syndrome Research Group: A nationwide study of various bio-markers and health issues in Down syndrome, children/teens with DS ages 11-18 yrs. If interested, contact Dr. Jamie Edgin, U of A, 520-626-0244, or firstname.lastname@example.org.
“Evaluation of brain function in memory tasks in individuals with Down syndrome”
The University of Arizona, Down Syndrome Research Group: A study of brain function when individuals with Down Syndrome are using their memory, looking at ages 15-30 yrs. If interested, contact Dr. Jamie Edgin, U of A, 520-626-0244, or email@example.com.
“A Non-Drug Study of the Sustainability of Neurocognitive Tests and Functioning Scales in Individuals with Down Syndrome”
Following its 2011 initiation of the study of RG1662, Roche has begun a second new Down syndrome clinical study, “A Non-Drug Study of The Suitability of Neurocognitive Tests and Functioning Scales for the Measurement of Cognitive and Functioning Changes in Individuals with Down Syndrome.” The goal of this new study is to evaluate the suitability of neurocognitive tests and functioning scales for the measurement of cognitive and functioning changes in individuals with Down syndrome. There are currently multiple clinical study sites internationally, including two in the US. The University of Arizona in Tucson, AZ and Duke University in Durham, NC represent the US clinical study sites. Dr. Jamie Edgin, Co-Principal Investigator of the Down Syndrome Research Group and DSRTF-supported researcher, is the study lead at the University of Arizona.
You can learn more about this new clinical study and information concerning participation atclinicaltrials.gov and the Roche Trials Database, or by contacting the Roche Trial Information Support Line at 1 (888) 662-6728 (US only; 6:00 AM – 3:00 PM Pacific Standard Time).
“Landmark research study shows targeted intervention improves the reading and language skills of children with Down syndrome,” Down Syndrome Education International: http://www.dseinternational.org/en/gb/.
Practical application aids are in formulation – stay tuned!
Dr. Elizabeth “Betsy” Boatwright (mother to Emma) is a member of the board of directors and chairs the research division for DSNetwork. Dr. Boatwright specializes in internal medicine and pediatric medicine. She attended medical school at Harvard University Medical School and graduated in 1997, before working at the Mayo Clinic in Scottsdale for 15 years. Additional Internal Medicine training was conducted at Medstar, Georgetown Medical Center.