Much work is needed to fully understand the pathomechanisms underlying intellectual disability disorders like Down syndrome. Therefore, we promote, nurture and sponsor 1) basic research that explores the cellular and molecular pathways that are linked to physical and cognitive dysfunction in patients, 2) short/mid-term patient-oriented clinical research and 3) research with sound potential for long term treatments. Our ultimate goal is to identify potential targets for intervention and advance the development of drugs and therapies that will offer people with Down syndrome and other intellectual disabilities the opportunity to lead healthier, longer and fulfilling lives.

Drug development for genetic diseases that affect brain development and function is complex. There are no pre-determined approaches to easily identify the critical and most promising targets. Therefore, our research portfolio encompasses the following stages of research:

Basic research, which is the backbone of scientific discovery and essential for all therapeutic research. Basic research will provide in-depth knowledge on the cellular and molecular pathways and mechanisms affected by the genetic alterations (e.g. mutated genes, chromosomal abnormality) and how they are linked to altered brain development and function. The foundation supports scientists around the world to study for instance, gene regulation, protein expression and function, biochemical and cellular pathways, metabolism, organelle biology, neural development and brain circuitry, structure and activity. These studies highlight potential targets for drug development.

Translational research, that builds on basic research and explores whether the new findings and theories can be translated into potential treatments with meaningful outcomes for the patients. Patient-oriented hypotheses and research, are also drawn from analyses of the Jerome Lejeune Institute database. Translational research requires focusing on the most promising findings to develop the building blocks of future therapies and overseeing their transition into clinical trials. This task, includes the optimization of animal and cellular models, and the acquisition of thorough knowledge on biomarkers needed to define the key objectives for subsequent clinical studies.

Clinical research, that provides a better understanding of the diseases from the clinical point of view by undertaking epidemiological studies and by applying the knowledge and therapies obtained from basic research and translational research. This is one of our main objectives, and we support it through our grants and fellowships programs and also through the Jerome Lejeune Institute -often in partnership with other clinical Institutions-. Optimal and successful clinical research, requires that the population to be analysed is well characterized (by e.g. epidemiological studies and cohort-based exploration) and clear biomarkers are defined. The Jerome Lejeune Institute is uniquely positioned to undertake clinical research because as one of the leading medical centres for patients with Down syndrome and intellectual disabilities in the world, it counts with about 10000 patients. The Foundation sponsors all research projects of the Institute Jerome Lejeune.

Our research funding is mainly devoted to Down syndrome. However, other disorders from genetic origin associated to Intellectual disability are also part of our research priorities. Therefore, in addition to Down syndrome, the Jerome Lejeune Foundation awards funding to scientists working on Fragile X syndrome, DiGeorge syndrome, Willian-Beuren syndrome, Rett syndrome, Smith-Magenis syndrome, Angelman syndrome and many others.

We offer several funding instruments for research projects:

  • Our grants program supports fundamental, translational and clinical research projects. We have two types of grant funding schemes, pilot or exploratory grants for early stage research projects, and advanced grants for projects that already have some preliminary data. We open calls two times a year, with one call dedicated to research in both Down syndrome and other intellectual disabilities from genetic origin, and one call exclusively dedicated to Down Syndrome research.
  • Our postdoctoral fellowships program “Jerome Lejeune and Sisley-d’Ornano joint Postdoctoral Fellowships” is open for applications once a year, and each year the call is focused on specific topics in Down syndrome research.
  • Once a year our  young researcher award recognises talented young researchers that are developing or have developed projects with therapeutic potential for Down syndrome or other intellectual disabilities. 
  • Additionally, we subsidise the 4th year of a PhD program for students working on Down syndrome via our 4th– year PhD scholarship.

It is at the core of our Foundation that results obtained by our funded projects are published and made available as quickly and widely as possible, thereby ensuring that researchers, caregivers, donors, affected people and families around the globe are aware of new developments.  

We encourage networking and collaboration:

We are convinced that collaboration between researchers will strengthen and speed up the process of discovery and treatment. The Foundation promotes and cherishes a collaborative research environment through a number of strategies:

  • We sponsor scientific meetings such as the T21RS biennial International Conference which promotes scientific exchanges, in-person communication between scientists and clinicians working in the field and highlights the most promising research at the basic, translational and clinical levels.
  • We encourage young researchers to undertake research on Down syndrome and intellectual disabilities. We facilitate the development of their projects and their communication with senior researchers working in the same or related field who can advise or even partner with them.
  • We organise theme-based get-together between awardees working in similar topics, which we hope will facilitate scientific exchange, collaborations and perhaps even the creations of working groups on the topic. Additionally, these meetings give us an overview on the research being pursued and the immediate needs of our awardees, which enable us to gather ideas, adjust strategies and design future avenues.