Yang Sun
Stanford University, CA·Genetics
Children born with certain genetic eye diseases can lose their sight, and for nearly all of them there is no treatment. Two rare inherited disorders anchor this research: Joubert syndrome, which damages the light-sensing cells of the retina, and Lowe syndrome, which causes glaucoma and cataracts.
- Fields
Genetics
Medicine & Clinical Research
Biomedical Engineering
- Topics
Joubert syndrome
Lowe syndrome
oculocerebrorenal syndrome
- Grants
- 2 known grants, through Mar 2030
What they work on
- Determine how mitochondrial proteins help position ARMC9, a Joubert syndrome gene, in photoreceptor cilia, to explain the newly found link between mitochondrial function and cilia building.
- Test whether overexpressing NMNAT, an enzyme tied to cellular energy metabolism, rescues the defects caused by loss of ARMC9.
- Determine whether CRISPR editing of ARMC9 restores photoreceptor formation in retinal organoids grown from human induced pluripotent stem cells (iPSCs).
- Use dCasMINI, a compact CRISPR tool that switches genes on without cutting DNA, to activate a backup 5-phosphatase that degrades the lipid PI(4,5)P2 in Lowe syndrome models.
- Generate exon-skipping transcripts and use adenine base editors and prime editors to reduce or correct OCRL mutation effects in Lowe syndrome patient-derived iPSC models.
More about the research
Both projects aim to understand what goes wrong when a single gene fails and to test ways of restoring function, including CRISPR gene editing in patient-derived cells.
Why it matters
Inherited retinal degeneration is a leading cause of irreversible blindness in children, and Lowe syndrome causes glaucoma, kidney failure and intellectual disability with no available therapy. By identifying a mitochondrial route to rescuing cilia and by developing compact CRISPR gene therapies, this work could lead to the first treatments for Joubert-related retinal degeneration and Lowe syndrome. The same approaches may later extend to more common inherited eye diseases.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Debarshi Mustafi
University of Washington, WA·Genetics·Early-career
Use targeted long-read sequencing of RB1 DNA and methylation from a patient's sample alone to assign the parent of origin of the inherited variant, and link it to retinoblastoma severity, treatment response and second-cancer risk.
Xiao Wang
University of Pennsylvania, PA·Genetics
Test whether adenine base editors, which chemically rewrite a single DNA base without cutting both strands, can correct the PAH R408W variant in cultured human liver cells and restore phenylalanine hydroxylase activity.
Budd Tucker
University of Iowa, IA·Biomedical Engineering
Train an AI algorithm on imaging data collected during iPSC generation and retinal derivation to select patient stem cell lines with a strong tendency to form retinal tissue.
The school
Stanford University: 87 labs on PI Pages, $1.6B a year on research, 739 research doctorates a year.
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