Down syndrome, don't talk about a "cure": research takes stones out of the backpack, not empty it.

The Japanese team of Ryotaro Hashizume and Hiroki Kurahashi, who for the first time removed in vitro one of the three copies of chromosome 21 , the genetic root of Down syndrome , would appear to be a headline-grabbing discovery. The buzz on social media is already calling it a breakthrough, using important words like "cure."

But the Down Syndrome Task Force —supported by CoorDown and AIPD —urges us to temper our enthusiasm. "We must be very careful: while undoubtedly important, this is a result obtained only in the laboratory, in cells grown in a controlled environment. It is not a cure, nor something that can currently be applied to people."

Limits and prospects

To reach the brain, it would be necessary to pass CRISPR/Cas9 enzymes across the blood-brain barrier, allow them to enter the neurons without damaging them and guarantee a safe and targeted surgical action: objectives that are light years away from clinical practice .

Meanwhile, the scientific community isn't sitting idly by. At the Rome conference in June 2024, coordinated by Professor Eugenio Barone , the question was openly raised as to whether gene therapy could become a viable option. At the same time, approaches are being developed that are closer to the patient: two drugs, AEF0217 and Bumetanide, are already being tested in Italy to enhance cognitive function or delay early-onset Alzheimer's disease typical of trisomy 21. Electrical and magnetic brain stimulation techniques are also showing encouraging results.

The backpack full of stones

The goal, mind you, is not to eliminate the syndrome , but rather to reduce the burden it entails: "The perspective that scientific research offers us today is very important and can be understood with a simple image," explain Martina Fuga, president of CoorDown , and Gianfranco Salbini, president of AIPD. "It's as if every person with Down syndrome carried a "backpack" full of stones on their shoulders, which makes many activities more difficult or slower. Researchers aren't trying to "eliminate the syndrome," but to remove stones from the backpack to make the journey easier. This is why we work closely with the DS Task Force, to inform people with Down syndrome and their families about how it can improve their quality of life and at what stages."

The road is long, but the path is being charted by a network of laboratories—many of them in Italy—determined to transform cutting-edge research into tangible solutions. "Hope today rests primarily on these many avenues already being explored and on the passion and commitment of numerous research groups, many of them Italian," concludes Lucio Nitsch, professor emeritus at Federico II University and coordinator of the Task Force. "Most of these groups are represented in the DS Task Force, which organizes an annual scientific and educational conference with the aim of broadening the debate among scholars and highlighting the latest developments. The next one will be held in Naples from October 17 to 19, 2025. The conference is free and open to all: people with Down syndrome, their families, researchers, doctors, professionals, and teachers. An opportunity not to be missed."