A multidisciplinary platform featured by patient-derived RPEs is established to study the disease-causing mechanisms of BEST1 mutations, and demonstrates gene-supplemented rescue of the mutation-caused deficiency in Ca²⁺-dependent Cl^- current in human RPE.

Transplanting microglia derived from human stem cells into mice reveals new possibilities for treating neurodegenerative eye diseases.

Skin cells from a patient with retinitis pigmentosa have been used to generate induced pluripotent stem cells, which could potentially form the basis of new treatments for this disease.

Important mechanistic details on Duchenne Muscular Dystrophy arrhythmogenesis are revealed, providing a crucial lead for investigators interested in developing therapeutic solutions for this deadly disease.

BEST1 autosomal dominant loss-of-function mutations surprisingly behave in a dominant-negative manner, whereas gain-of-function mutations exhibit a strong dominant effect that necessitates CRISPR/Cas9-mediated suppression of the endogenous mutant allele in gene therapy.

A 3D bone marrow niche that reproduces megakaryocyte differentiation and ex vivo platelet production from hematopoietic progenitors and iPSCs of thrombocytopenic patients predicts individual response to Eltrombopag accurately.

Mutational analysis in cell-based models of C9ORF72 ALS/FTD identifies canonical translation initiation codons (AUG) on the antisense CCCCGG transcript as initiation sites for synthesis of neurotoxic dipeptide repeat proteins.

iMyoblasts, a novel iPS-derived PAX3 muscle stem cell for gene editing, muscle engraftment, and stem cell therapeutics to treat muscle injury and muscular dystrophies.

Stem cell-derived retinal organoids are a useful tool to understand the pathobiology of devastating retinal degenerations and can aid to identify and validate therapeutics to promote rescue.

Autism-associated iPSC-derived neurons mutant in CNTN5 or EHMT2 are hyperactive.