Mary Armanios
Johns Hopkins University, MD·Genetics
Chromosome ends are capped by telomeres, stretches of DNA that shorten each time a cell divides and so set a ceiling on how long a cell lineage can keep dividing. Human telomere length sits within a surprisingly narrow range, and telomerase, the enzyme that rebuilds telomeres, is kept under tight control.
- Fields
Genetics
Medicine & Clinical Research
- Topics
telomeres
telomere length
long telomere syndrome
- Grants
- 2 known grants, through Feb 2030
What they work on
- Identify additional large-effect inherited variants that cause long telomere syndromes in cancer-prone families, extending beyond the POT1 mutations and the two other telomere genes already found to phenocopy them.
- Determine how these variants disrupt normal regulation of telomere length by telomerase, the telomere-rebuilding enzyme, using relevant genetic models alongside samples from affected human families.
- Examine how an inherited long-telomere background reshapes the somatic mutation landscape of tumors, including the early-life clonal hematopoiesis seen in carriers, to find candidate early-detection biomarkers.
- Coordinate cancer research training at the Sidney Kimmel Comprehensive Cancer Center, tracking outcomes for trainees in oncology threads for undergraduates, T32 programs and grant-writing workshops.
More about the research
Inheriting short telomeres turns out to protect against most cancers of aging, because cells stop dividing or die before tumors can evolve; the exceptions involve immune exhaustion or bone marrow failure. Inheriting unusually long telomeres appears to do the opposite, with common variants in telomere genes linked to risk for more than 28 malignancies. Work here centers on that newly recognized, inherited cancer-prone state, together with a cancer research training and education program.
Why it matters
People who inherit long-telomere mutations such as those in POT1 face very high lifetime cancer risk, beginning in childhood, yet most carriers are unidentified because the syndrome was only recently described. Pinpointing additional causal variants and tumor biomarkers could let clinicians recognize these families and build screening, surveillance and prevention protocols around them.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Dirk Hockemeyer
University of California-Berkeley, CA·Genetics
Use deep scanning mutagenesis of TPP1, a shelterin protein that recruits telomerase, to measure how many variants of uncertain significance from ClinVar change telomere length.
Brandon Pierce
University of Chicago, IL·Public Health & Epidemiology
Build and test a workflow that measures arsenic species, separating the more toxic trivalent forms from pentavalent ones, in blood mononuclear cells, urine-derived urothelial cells, and buccal cells using hydride generation cryotrapping inductively coupled plasma mass spectrometry.
Lukasz Gondek
Johns Hopkins University, MD·Medicine & Clinical Research
Determine the cancer-causing potential of donor-derived CHIP in transplant recipients, using a cohort of 1,857 donors over 40 and serial recipient samples to separate true driver mutations from background aging mutations.
The school
Johns Hopkins University: 100 labs on PI Pages, $4.1B a year on research, 622 research doctorates a year.
Reach out
A start for your email. Fill in the brackets.