We are looking for innovative research projects that can evaluate the efficacy of gene therapies targeting specific genes in chromosomal abnormalities. Our primary interest is in research focused on Down syndrome (trisomy 21), but other conditions such as trisomy 13, trisomy 18, as well as 5p- and 4p- syndromes are also within the scope. We are also interested in research focused on identifying key target genes involved in these abnormalities.

Solutions of interest include:

• Utilization of organoid models or patient-derived induced pluripotent stem cells (iPSCs) with engineered chromosomal abnormalities to map out gene expression and study the impact of target genes on disease phenotypes.
• Validation of known target genes through in vitro or in vivo studies to assess their effect on disease phenotypes and potential therapeutic benefits.
• Identification of novel ‘causal’ genes contributing to chromosomal abnormalities using transcriptomic, proteomic, and genomic data from patient-derived tissues and cells.
• Investigation of the therapeutic potential of causal genes in animal models with a focus on broad-spectrum or life-threatening manifestations of chromosomal abnormalities.

Our must-have requirements are:

• Proposals must include a unique idea of target genes supported by any scientific data (clinical or nonclinical) or animal/organ/cell models related to a certain chromosomal abnormality.
• The target gene is expected to improve a wide range of clinical manifestations related to the chromosomal abnormality and/or significantly address a single life-threatening symptom.
• The target gene is expected to show pharmacological effects in tissues and cell types where the gene can be delivered by current gene therapy (liver, muscle, CNS, eyes, etc.).

Our nice-to-have's are:

• Research proposals that present both unique target gene ideas and disease models.

What's out of scope:

• Diseases with a prevalence of less than 1 in 100,000 individuals in Japan and the US.
• Therapies aimed at treating cancer or infectious diseases.