Nara Sobreira
Johns Hopkins University, MD·Genetics
Some people are born with genetic conditions that make cancer much more likely. Ollier disease and Maffucci syndrome are rare examples that were only recently recognized as cancer susceptibility syndromes.
- Fields
Genetics
Medicine & Clinical Research
- Topics
Ollier disease
Maffucci syndrome
enchondromatosis
- Grants
- 1 known grant, through Jan 2028
What they work on
- Comprehensively define the clinical features and natural history of patients with Ollier disease and Maffucci syndrome, two rare syndromes that cause benign tumors and raise cancer risk, using a deeply studied patient group.
- Discover the causative genes and genetic variants in previously unexplained cases of Ollier disease and Maffucci syndrome, using genomic analysis of patients' inherited and tumor DNA samples.
- Test whether variants that cause Ollier disease or Maffucci syndrome disrupt the HIF-1 pathway, a cell-signaling system that responds to low oxygen, using functional laboratory studies of the identified variants.
More about the research
Patients develop benign growths, bone deformities, and in some cases malignant tumors. These conditions are poorly described and have no treatment. Their genetic causes, and the cellular pathways that drive tumors to form and become cancerous, are unknown. Learning what causes them could also shed light on more common cancers that arise without a syndrome, such as chondrosarcoma, a cartilage cancer, and glioma, a brain tumor.
Why it matters
Patients with Ollier disease and Maffucci syndrome currently have no treatment options. Identifying the genes and pathways behind their tumors could allow more precise diagnosis and could point to new drug strategies for their bone deformities and cancer risk. Because related cancers such as chondrosarcomas and gliomas also occur outside these syndromes, the findings may eventually inform treatment for those more common cancers.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Erin Peckham-Gregory
Baylor College of Medicine, TX·Genetics
Analyze germline whole-genome sequencing data from 191 LCH case-parent trios in the Gabriella Miller Kids First program to define inheritance patterns and the role of de novo mutations in LCH risk.
Conrad C Weihl
Washington University in St Louis, MO·Medicine & Clinical Research·Early-career
Resolve variants of unknown significance in limb-girdle muscular dystrophy (LGMD) genes, DNA changes whose disease relevance is unclear, by developing assays of pathogenicity using patients and samples from an existing neuromuscular biorepository.
Mary Armanios
Johns Hopkins University, MD·Genetics
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.
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.