menu

Support Research on Down Syndrome

Your help can make a difference in the life of millions of people!

News - February 2018: Results of this research published
in “Nature's Scientific Reports” (read article)
News - April 2016: Results of this research published
in “Human Molecular Genetics” (read article).

Our story

Davide and Federica

Hello! My name is Federica and I am a very active 5 year old girl who is deeply in love with life. In this picture, I am with my dear friend Davide. We both were born with Down Syndrome, but this is not what we mainly have in common. There is so much more: we both love books, music, and swimming. We are very persistent and we take great pride in our achievements. Like all authentic Italians, we live on pasta and pizza.

Watch a video of us eating pasta together!

We love spending time together. Davide can already read and write and I love when we sit together and he reads me a story. Our laughter and happiness are absolutely contagious! People are always amazed by our kindness and ability to empathize with others. Many times, they do not even realize we have developmental delays, and they just look at us like any other child our age. And this is very nice because, although we were born with Down Syndrome, we are no different from our peers: we are curious, eager to learn, and love to have fun. We do happen to have an extra chromosome — precisely, an extra copy of chromosome 21 — and that is why the scientific name of our genetic condition is Trisomy 21. This extra chromosome significantly affects our cognitive abilities and delays the achievement of our developmental milestones. It is harder and usually takes more time for us to master the skills our peers acquire so easily. When we grow up, we might not be able to live as independently as our peers.

Pierluigi and Federica

As of today, researchers do not know what causes Down Syndrome or how to prevent the delays caused by the extra copy of chromosome 21. Research on Down Syndrome is crucial to enhance the quality of life of people living with this condition and enable them to live independently in adulthood. In this picture, I am with a dear friend of ours: his name is Pierluigi. Davide and I have many friends, but Pierluigi is a very special one. He is an extraordinarily talented and passionate researcher who leads a team of other talented researchers in the Department of Genomics at the University of Bologna, Italy. Pierluigi and his team have devoted their research efforts to finding a treatment to improve the quality of life of people with Down Syndrome. They are pursuing an innovative and very promising line of research to understand how the extra chromosome impacts the functioning of the brain. You can read more about the team, their research goals and results to date here.

Make a difference, donate now!

Financial support is essential to enable this wonderful group of researchers to pursue their research, but funding is currently very scarce. Please support their effort to find a treatment for Down Syndrome. Make a donation now! Even a small donation can make a big difference, and all donations will go entirely towards supporting the research team (no fraction of the donation amount will go toward administrative costs or other costs not directly related to supporting the research effort). For more information on how the money will be spent, please click here.

Research

Davide and Federica

Team

The research team is led by Pierluigi Strippoli and Lorenza Vitale at the Laboratory of Genomics, DIMES, University of Bologna. For more information click here.

What the team is doing

The research team is conducting genomic and post-genomic analysis of human chromosome 21 in relation to the pathogenesis of trisomy 21 (Down Syndrome). Specifically, they are pursuing the following goals.

  1. Identification, through innovative computational biology tools and the meta-analysis of 43 years of cytogenetics data, of a critical region for intellectual disability on human chromosome 21.
  2. Characterization of new genes located on the critical region for intellectual disability on human chromosome 21 in order to propose a rationally-based treatment.
  3. Systematic study of scientific work of Jérôme Lejeune, discoverer of trisomy 21, who suggested that a metabolic defect may be the basis for the main symptoms of trisomy 21.

What the team is going to do

The team will study the genotype-phenotype correlation in Down Syndrome through clinical symptom collection and genome, transcriptome, methylome and metabolome analysis of individuals with trisomy 21. This is a systematic clinical-experimental study, together with Prof. Guido Cocchi of Sant'Orsola Hospital, approved by the Ethics Committee and already involving almost 50 children.

Results to date

The research team led by Prof. Pierluigi Strippoli has already achieved the following innovative results:

  1. Creation of transcriptional maps for human brain, hippocampus and blood cells to study expression of human genes in detail, in particular of chromosome 21 (see the following publications).
    http://www.ncbi.nlm.nih.gov/pubmed/25185649
    http://www.ncbi.nlm.nih.gov/pubmed/26108741
    http://www.ncbi.nlm.nih.gov/pubmed/25476127
  2. Reanalysis of all reported partial trisomy 21 cases aimed to the identification of the critical region responsible for the intellectual disability in the human chromosome 21. A manuscript presenting the results of this research was published in April 2016 in “Human Molecular Genetics”, one of the most prestigious journals in the field of genetics (read article).

Use of donations

All donations to the Laboratory will be used for the following purposes:

  1. Purchasing materials, reagents and services needed for the experimental work.
  2. Funding fellowships for young researchers (Ph.D. students and Postdocs) working on the project