Harvard Stem Cell Institute

Progress Report: September 2018
cystic fibrosis
Although scientists have known for decades that a defective CFTR gene causes cystic fibrosis, the specific cells responsible for making CFTR were unknown until a recent study led by HSCI Principal Faculty member Jayaraj Rajagopal.
  • What they did: The researchers used single-cell sequencing technology to measure gene expression in the mouse airway, building a detailed catalog of many different cell types.
  • What they found: They identified a new and rare cell type where CFTR gene expression was concentrated, which they named the ionocyte.
  • Why it matters: Armed with this new understanding of normal lung biology and lung diseases, researchers can focus their efforts and accelerate progress in fighting cystic fibrosis.
speech development
Left to right: Richard Smith, Maria Lehtinen, Christopher Walsh.
HSCI faculty members Maria Lehtinen and Christopher Walsh have discovered a gene involved in brain development, specifically in the areas related to speech and language.
  • What they did: The researchers analyzed the genomes of families affected by polymicrogyria -- a condition where the folds on the brain's surface are smaller and more numerous than usual -- in the brain region responsible for language.
  • What they found: Affected individuals had mutations in the gene SCN3AWhen tested in an animal model, mutated SCN3A caused abnormal brain development.
  • Why it matters: The results open new avenues of investigation for understanding speech development in the fetal brain.