Summary

Eligibility
for people ages 13-100 (full criteria)
Healthy Volunteers
healthy people welcome
Location
at UCSF
Dates
study started
estimated completion
Principal Investigator
by Steve Finkbeiner, MD, PhD (ucsf)
Photo of Steve Finkbeiner
Steve Finkbeiner

Description

Summary

The aim of this study is to determine the contribution of genetic factors to the pathogenesis of diseases, including diseases such as Parkinson's disease, Hirschsprung's disease, and autism. Patient-derived cellular models of diseases will be developed, which will require the collection of blood samples from patients and healthy individuals in order to generate induced pluripotent stem cells (iPSCs) for the development of iPSC-derived human cell cultures. These human cellular models will be phenotyped using a variety of methods, including cellular, molecular, and biochemical assays. Because these human cellular models will retain the genetic background from the patients and control subjects, this will allow us to determine the contribution of genetics to disease phenotypes. Such disease-specific pluripotent stem cell lines will be invaluable tools for many basic and translational research applications, including pathophysiological studies in a developmental context, and innovation and screening of small molecule drugs capable of reversing the disease phenotype and potentially leading to a cure for a broad range of diseases, where appropriate in vitro or in vivo disease models do not exist.

Keywords

Hirschsprung Disease Unaffected Relatives

Eligibility

You can join if…

Open to people ages 13-100

  • Individuals with Hirschsprung disease
  • Any disease severity accepted
  • Individuals with or without other health issues accepted
  • Unaffected / healthy relatives of individuals with Hirschsprung disease

You CAN'T join if...

  • Individuals who are unwilling or unable to provide blood sample
  • Individuals who are unwilling or unable to provide informed consent
  • Individuals who are outside the age range permitted for our study will be excluded. Our study will only perform blood draws from individuals ages 13 and above.

Location

  • University of California, San Francisco accepting new patients
    San Francisco California 94158 United States

Lead Scientist at UC Health

  • Steve Finkbeiner, MD, PhD (ucsf)
    Areas of Investigation: Research in our laboratory focuses on molecular mechanisms of plasticity and neurodegeneration. A long-term goal of our research is to understand how neuronal activity elicits changes in gene expression that are important for learning and memory.

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
University of California, San Francisco
ID
NCT04476225
Study Type
Observational
Last Updated