Christina Pacak
University of Minnesota, MN·Genetics
Some children inherit a broken copy of a gene that repairs damaged DNA. One such rare condition is xeroderma pigmentosum–Cockayne syndrome (XP-CS), which combines features of two DNA repair disorders.
- Fields
Genetics
Medicine & Clinical Research
Biomedical Engineering
- Topics
gene therapy
xeroderma pigmentosum
Cockayne syndrome
- Grants
- 1 known grant, through Aug 2027
What they work on
- Optimize the capsid, or virus shell, and the promoter, the DNA switch controlling gene activity, of an AAV vector that delivers the ERCC5 (XPG) gene to improve treatment in Xpg-/- mice.
- Refine the delivery route and tune the dose of ERCC5 gene therapy to reduce neurodegeneration and extend lifespan in the Xpg-/- mouse model of XP-CS.
- Run toxicity studies and evaluate biomarkers in treated Xpg-/- mice to establish the safety and efficacy evidence needed for a Phase 1 clinical trial.
More about the research
People with XP-CS age unusually fast and suffer severe nervous system decline, including cognitive problems, developmental delays, brain shrinkage, nerve damage and dementia. Life expectancy is short. Gene therapy, which delivers a working copy of the broken gene, offers a possible way to treat the root cause.
Why it matters
XP-CS is a rare inherited disorder that causes severe neurodegeneration and early death, and it has no effective treatment. A refined, safer AAV gene therapy delivering ERCC5 could move toward a first human clinical trial for patients with the XPG subtype. The knowledge gained could also speed gene therapies for other genetic subtypes of XP-CS.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Qinglan Ling
University of Massachusetts Chan Medical School, MA·Genetics·Early-career
Develop and optimize a mitochondria-targeting base editor, a tool that changes single DNA letters, to create a truncating mutation in the mouse MTATP6 gene and generate a conditional mouse model.
Jung-Hyun Min
Baylor University, TX·Biochemistry
Determine how the yeast damage sensor Rad4-Rad23-Rad33 (equivalent to human XPC-RAD23B-CETN2) and the unwinding machine TFIIH together open DNA around a lesion, using cryo-electron microscopy and crosslinking/mass spectrometry.
Stephen Kaler
Columbia University, NY·Medicine & Clinical Research
Evaluate the preclinical safety and tolerability of AAV9 gene therapy delivering a shortened, codon-optimized ATP7A copper transporter gene for Menkes disease.
The school
University of Minnesota: 88 labs on PI Pages, $1.4B a year on research, 722 research doctorates a year.
Reach out
A start for your email. Fill in the brackets.