DS Cognition Research in the News


Research Advance: Cognitive Deficits of DS May Be Linked to Stem Cell Defects

September 11, 2013

The learning and physical disabilities conferred by Down syndrome may be due at least in part to defects in the body's stem cell regulation — including some defects which can be alleviated by reducing the expression of just one gene on the 21st chromosome.

Led by Michael Clarke, M.D., and Maddalena Adorno, Ph.D., researchers at the Stanford University School of Medicine have released new findings in the September 11 issue of Nature Medicine showing that nerve, and other, stem cells affected by Ds do not grow or renew themselves as well as unaffected cells, and that this dysfunction can be corrected by lowering the expression of one particular gene — designated Usp16 — to more normal levels. Learn more.


Research Advance: Experimental Drug Normalizes Cerebellar Growth, Improves Cognition in DS Mouse Model

September 4, 2013

A major study describing a significant new potential therapeutic intervention to improve learning and memory in Down syndrome has been published in the September 4 issue of Science Translational Medicine.

DSRTF-supported researchers at Johns Hopkins University School of Medicine, led by Dr. Roger Reeves, professor of genetic medicine, showed that in a mouse model of Down syndrome, a single dose of an experimental drug on the day of birth not only normalized the growth of the cerebellum, but also normalized learning and memory in a specific cognitive test. Learn more


Clinical Trial: Elan Announces Study of ELND005

September 3, 2013

Biotechnology company Elan Corporation, plc, has announced the initiation of a Phase 2A clinical trial of ELND005 (scyllo-inositol) in young adults, 18-45 years of age, with Down syndrome. ELND005 is a molecule that may hold the potential to improve cognition in Ds by reducing aggregation of beta-amyloid, which is a product of the amyloid precursor protein (APP) encoded by a gene on chromosome 21 — thus preventing the intraneuronal buildup of beta-amyloid plaques that most people with Ds develop by their 40s — and addressing a metabolic abnormality in Ds that correlates with the severity of cognitive dysfunction. The study now underway will primarily evaluate the safety and pharmokinetics of the molecule, and will include select cognitive and behavioural measures. Learn more about this clinical study, including details on participation.


Research Update: New Potential Therapeutic Target in Down Syndrome

July 2, 2013

A newly published study funded in part by DSRTF shows that an FDA-approved asthma drug already in use improves cognitive function in a mouse model of Down syndrome, providing evidence in support of a new therapeutic target, the beta-2 andregenic receptors in the hippocampus.  The drug, a bronchodilator called formoterol, was shown in the study to strengthen nerve connections in the hippocampus, the study said. It also improved contextual learning. A high dosage of the drug was administered over a period no longer than two weeks, resulting in notable improvements in the mice's neuronal structures. "The fact that such a short period of giving medication can make these neurons much more complex is very interesting," said Stanford University's Ahmad Salehi, MD, Ph.D., the study's lead author and a DSRTF grant recipient. Learn more.

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