PIPages
Labs

Lynn Jorde

University of Utah, UT·Genetics

Every person carries new DNA changes, called de novo mutations, that neither parent had. Cells in our bodies also pick up somatic mutations, which are changes that arise during life and are not inherited.

Fields

Genetics

Biology

Medicine & Clinical Research

Topics

human genetics

genomics

genetic variation

Grants
1 known grant, through Jun 2027

What they work on

  1. Test whether a person's germline (inherited) mutation rate tracks their somatic mutation rate, using whole-genome sequencing of blood DNA collected from the same Utah CEPH pedigree members at three time points over 35 years.
  2. Test the hypothesis that lower expression of key DNA repair genes leads to higher germline and somatic mutation rates, combining whole-genome sequence data with RNA-seq from freshly collected whole blood.
  3. Relate mutation rates and DNA repair to more than 180 measured traits across four generations of CEPH families, creating a public repository of genome and gene-activity data.
  4. Develop improved genome-analysis methods, including detection of mobile element insertions, and apply them with RNA-seq and functional tests to large Utah pedigrees with ALS and juvenile idiopathic arthritis.

More about the research

How fast these mutations build up, why the rate differs between people, and what that means for health are basic questions in human genetics.

Why it matters

Understanding why some people accumulate DNA mutations faster could explain links between mutation rate, aging, lifespan and menopause. It could also show how DNA repair affects disease risk. The four-generation public data resource and new analysis tools could help researchers find disease-causing genes, starting with families affected by amyotrophic lateral sclerosis (ALS) and juvenile idiopathic arthritis.

Known grants

From NIH and NSF research grants. Labs often have other funding we can't see.

Human Genetic Variation and Disease

NIH · Jul 2016 – Jun 2027

Closest labs

Scott Devine

University of Maryland, Baltimore, MD·Genetics

Build a comprehensive resource of full-length, human-specific LINE-1 (FL-L1Hs) source elements, the retrotransposon copies able to produce new insertions, for studying L1 mobilization in human tissues and tumors.

Alan P Boyle

University of Michigan, MI·Genetics

Quantify how transposable element activity changes binding of CTCF, a protein that anchors DNA loops, across a population sample of 51 well-studied individuals using computational methods.

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.

The school

University of Utah: 58 labs on PI Pages, $789M a year on research, 366 research doctorates a year.

More about University of Utah

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