John Ringman
University of Southern California, CA·Neuroscience
A small number of families carry inherited mutations that cause Alzheimer's disease with near certainty, and usually early in life. Because it is possible to predict who will develop the disease and roughly when, these families allow researchers to watch the earliest changes unfold years before memory problems appear, and to ask what else shapes the course of the disease.
- Fields
Neuroscience
Genetics
Medicine & Clinical Research
- Topics
autosomal dominant Alzheimer's disease
presenilin
amyloid precursor protein
- Grants
- 1 known grant, through May 2027
What they work on
- Characterize and prospectively follow people with or at risk for autosomal dominant Alzheimer's disease in Jalisco, harmonizing clinical and cognitive measures across clinics in Guadalajara and Tepatitlán and the USC Alzheimer's Disease Research Center.
- Enable local genetic characterization of the population by providing gene-sequencing technology and training, including for the PSEN1 A431E and APP V717I mutations that cause disease in these families.
- Identify genes that modify the age at which Alzheimer's symptoms begin and the presence of leg stiffness among mutation carriers.
- Strengthen the ability of Jalisco clinicians and researchers to deliver presymptomatic genetic counseling, so at-risk individuals can make autonomous decisions about testing and research participation.
More about the research
Much of what is known comes from one extended family in Colombia sharing a single mutation. In the Mexican state of Jalisco, a comparable founder population carries a different mutation in PSEN1 (A431E, in a gene whose protein helps process the amyloid precursor), along with a large family carrying a mutation in APP (V717I, the amyloid precursor protein gene itself), but these families have been little studied.
Why it matters
Families with inherited, early-onset Alzheimer's disease are the clearest setting in which to study what happens in the brain before symptoms begin and to test preventive treatments, and findings from them have informed understanding of common Alzheimer's disease. Building research and genetic-counseling capacity in Jalisco gives a large, motivated but previously understudied population access to that research, and the search for genes that delay onset could point toward protective mechanisms.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Jorge Llibre-Guerra
Washington University in St Louis, MO·Medicine & Clinical Research
Identify clinical, genetic and proteomic predictors of ARIA risk in patients receiving amyloid-targeted treatments, using the DIAN-TU trial cohort and the real-world Memory Diagnostic Clinic cohort.
Gary Beecham
Wake Forest University, NC·Genetics
Identify new genetic variants linked to early-onset Alzheimer's disease without APP, PSEN1 or PSEN2 mutations, using whole-genome sequencing with family linkage and case-control association analyses.
Robert Marr
Rosalind Franklin University of Medicine and Science, IL·Neuroscience
Test how pharmacologically altering the activity of neprilysin and NEP2, enzymes that degrade amyloid-beta, changes acute pathology and recovery in the days after traumatic brain injury in APP-humanized mice.
The school
University of Southern California: 47 labs on PI Pages, $1.3B a year on research, 882 research doctorates a year.
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