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
- The first Gerber baby with Down syndrome is stealing heartson April 29, 2024 at 3:04 pm
For the first time since the contest's start in the 1920s, Gerber has chosen a child with Down syndrome as this year's Gerber baby.
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A 40-year-old man with Down syndrome who wants to live independently has brought a High Court challenge aimed at compelling Dún Laoghaire-Rathdown County Council in Dublin to assess his suitability ...
- National Down Syndrome Society to Host Acoustic Performance by GRAMMY® Award-winning Band Creed as Part of Charity Golf Outingon April 29, 2024 at 1:14 pm
NDSS Tremonti Family Golf Outing Orlando Golf Outing Orlando, FL, April 29, 2024 (GLOBE NEWSWIRE) -- The (NDSS) is hosting the inaugural Tremonti Family Charity Golf Outing at the ChampionsGate Golf ...
- Kayla Kosmalski makes history as first Miss Delaware Teen USA with Down syndromeon April 29, 2024 at 1:14 pm
Seventeen-year-old Kayla Kosmalski is breaking barriers and making history as the first contestant with Down syndrome to be crowned Miss Delaware Teen USA.
- Man with Down syndrome brings council to court over housing assessmenton April 29, 2024 at 9:21 am
Lawyers for David Johnstone say client deemed eligible for support in 2012 but DLR council failed to identify nature of what it deems appropriate ...
- GiGi's Playhouse Madison holds 3rd annual Dash for Down Syndromeon April 27, 2024 at 9:51 am
The family-friendly acceptance event put on by GiGi’s Playhouse Madison started with a 5K run and turned into a community festival.
- Former school district employee sentenced for molesting child with Down syndromeon April 25, 2024 at 1:30 pm
A former Rockwood School District employee appeared in St. Louis County Circuit Court on Thursday to be sentenced for molesting a student with Down syndrome.
- British Teen Becomes Youngest Person with Down Syndrome To Complete a Marathonon April 24, 2024 at 12:20 pm
He was born with a hole in his heart and was diagnosed with Down syndrome at birth. When he crossed the finish line with a time of 6:46:10, he became the youngest known person in his disability ...
- At Just 19, Runner with Down’s Syndrome Makes History as the Youngest Impaired Person to Finish the London Marathonon April 24, 2024 at 4:00 am
Receiving a Guinness World Record at the finishing line, Martin says it's a dream come true, and celebrated the 26.4 miles with his mom.
- ‘It’s all green’: Platte City man with Down syndrome finds new comfort by creating his own spaceon April 23, 2024 at 6:00 am
Dustin Sheridan has been alive, understanding of and resources for people with Down syndrome has grown tremendously. Now, he has a job he loves and a place of his own to call home.
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