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JDVS
  • About
  • JdVS Foundation
  • Community
  • Events
    • 2023 JdVS Summit-Charlotte
    • 2025 JdVS Summit-Chicago
  • Resources
    • Treatment Guide* for Patients and Families
    • Clinical Considerations* for Medical Professionals
    • Medical Advisory Board
  • Donate & Support
  • Register

R21 Grant

Dr. Herb Lachman was recently awarded a National Institutes of Health (NIH) R21 Research Grant. This exploratory and developmental research grant will allow Dr. Lachman and his team to continue their remarkable work!

Molecular analysis of glutamatergic neurons derived from iPSCs containing PPM1D truncating mutations found in Jansen de Vries Syndrome

Researchers interested in understanding the genetic basis of intellectual disabilities (ID) and autism spectrum disorder (ASD) have a powerful new research tool; induced pluripotent stem cell (iPSC) technology. These cells have the unique capacity to form essentially every type of cell in the body, including neurons and other brain cells. iPSCs can be generated from white blood cells obtained in a simple blood draw. When iPSCs are developed from individuals with ASD and ID, researchers can turn those cells into patient-specific neurons, a truly monumental scientific achievement. In addition to neurons, iPSCs can also be converted into small (several millimeters in diameter) 3-D structures called “cerebral organoids,” which, remarkably, resemble a first trimester fetal brain in their microscopic appearance and molecular functions. Cerebral organoids are being used as a model system to study the effect of ASD and ID-associated mutations on early brain development. In the current proposal, we are studying Jansen DeVries Syndrome (JdVS), which is caused by unique mutations in the PPM1D gene. Children with JdVS have a learning disability, and neuropsychiatric and physical problems that include severe anxiety, feeding problems, and other gastrointestinal issues. We have developed iPSCs from patients with JdVS and have recreated PPM1D mutations in iPSCs derived from typically developing controls using a gene editing technique called CRISPR-Cas9. These iPSCs will be turned into neurons and microglia, the brain’s immune cells, and analyzed with modern molecular tools to identify cellular pathways that are adversely affected by JdVS-causing PPM1D mutations to find novel therapies that will hopefully improve the quality of life of individuals with JdVS and their families.

Latest News

  • Meet Uzziah July 28, 2021
  • Meet Ryan February 24, 2021
  • Meet Noah February 19, 2021
  • Meet Wells February 19, 2021
  • Meet Daniel January 9, 2021

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Disclaimer: The information provided on this website is to inform and help families cope with the unexpected change in their life due to a JdVS diagnosis. The information contained on this site is not intended to replace information you have received from doctors or other health professionals. We are not doctors, we are parents of individuals diagnosed with JdVS.

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