Recent breakthroughs may lead to pharmacological treatments for the chromosomal disorder
People born with Down syndrome have always been considered to be incurably developmentally delayed—until now. In the past few years a number of laboratories have uncovered critical drug targets within disabled chemical pathways in the brain that might be restored with medication. At least two clinical trials are currently studying the effects of such treatments on people with Down syndrome. Now geneticist Roger Reeves of Johns Hopkins University may have stumbled on another drug target—this one with the potential to correct the learning and memory deficits so central to the condition.
Down syndrome occurs in about one in 1,000 births annually worldwide. It arises from an extra copy of chromosome 21 and the overexpression of each of the 300 to 500 genes the chromosome carries. “If you go back even as recently as 2004, researchers didn’t have much of a clue about the mechanisms involved in this developmental disability,” says Michael Harpold, chief scientific officer with the Down Syndrome Research and Treatment Foundation. But all that has changed. “In the past six or seven years there have been several breakthroughs—and ‘breakthroughs’ is not by any means too big a word—in understanding the neurochemistry in Down syndrome,” Reeves says.
This improved knowledge base has led to a series of discoveries with therapeutic promise, including the latest by Reeves. He and his team were attempting to restore the size of the cerebellum in mice engineered to show the hallmarks of Down syndrome. The cerebellum lies at the base of the brain and controls motor functions, motor learning and balance. In people with Down syndrome and in the Down mouse model the cerebellum is about 40 percent smaller than normal. By restoring its size, Reeves hoped to gain a clearer picture of the developmental processes that lead to anomalies in a brain with Down syndrome.
The Latest on: Down Syndrome
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The Latest on: Down Syndrome
- Appeals Court upholds Ohio's Down syndrome abortion banon April 14, 2021 at 7:38 am
An appeals court has reversed a lower court decision blocking the enforcement of a law that bans the abortion of babies diagnosed as having Down syndrome.
- Ohio's Down Syndrome Abortion Law Upheld By Appeals Courton April 14, 2021 at 6:15 am
(Shutterstock) COLUMBUS, OH — An Ohio law forbidding doctors from performing abortions motivated by fetal Down syndrome was upheld by an appeals court Tuesday. The United States Court of Appeals ...
- Appeals court upholds Ohio law against Down syndrome abortions, judge decries 'modern-day eugenics'on April 14, 2021 at 6:11 am
The Sixth Circuit Court of Appeals Tuesday upheld an Ohio law banning doctors from performing abortions when they know the reason a woman is seeking an abortion is that her baby has Down syndrome, a ...
- Down syndrome abortion ban's hold liftedon April 14, 2021 at 3:40 am
COLUMBUS, Ohio -- A divided federal appeals court lifted the hold Tuesday on an Ohio law that prohibits doctors from performing abortions based on a fetal diagnosis of Down syndrome, a case considered ...
- Appeals court upholds Ohio's Down syndrome abortion law in case with Supreme Court implicationson April 13, 2021 at 4:03 pm
A US appellate court decision on Tuesday upholding an Ohio law that prohibits abortions because of fetal Down syndrome evades major Supreme Court precedent and is certain to reverberate in cases ...
- Concurring Opinions in Sixth Circuit Down Syndrome/Abortion Caseon April 13, 2021 at 2:53 pm
Planned Parenthood, in which Thomas argued that Indiana’s law barring abortions sought solely because of the child’s race, sex, diagnosis of Down syndrome, or non-lethal disabilities “promote[s] a ...
- Divided federal appeals court upholds Ohio law banning Down syndrome abortionson April 13, 2021 at 1:44 pm
A divided federal appeals court Tuesday upheld an Ohio law that punishes doctors who perform abortions and know the procedure is done because of fears of Down syndrome.
- Federal Appeals Court Upholds Ohio’s Down Syndrome Abortion Lawon April 13, 2021 at 1:27 pm
A splintered federal appeals court on Tuesday upheld an Ohio law that makes it illegal for a physician to perform an abortion upon learning that the patient wants the procedure because she fears the ...
- US court lifts hold on Ohio's Down syndrome abortion lawon April 13, 2021 at 1:16 pm
A federal court has upheld an Ohio law prohibiting doctors from performing abortions based on a fetal diagnosis of Down syndrome ...
- Judges cite Holocaust, eugenics in divided ruling on Ohio's Down Syndrome abortion banon April 13, 2021 at 1:00 pm
COLUMBUS, Ohio – Ohio's ban on abortions after a fetal diagnosis of Down syndrome doesn't violate a woman's ability to obtain an abortion, a divided 6th Circuit Court of Appeals ruled Tuesday. The law ...
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