Jon Bernstein

Professor of Pediatrics (Genetics) and, by courtesy, of Genetics

Clinical Focus

Autism
Developmental Disorders
Undiagnosed Diseases
Craniofacial Conditions
Craniosynostosis
Cleft Lip
Cleft Palate
Clinical Genetics and Genomics

Academic Appointments

Professor - University Medical Line, Pediatrics - Medical Genetics
Professor - University Medical Line (By courtesy), Genetics
Member, Bio-X
Faculty Affiliate, Institute for Human-Centered Artificial Intelligence (HAI)
Member, Maternal & Child Health Research Institute (MCHRI)
Member, Stanford Medicine Children’s Health Center for IBD and Celiac Disease

Administrative Appointments

Chief, Division of Medical Genetics, Department of Pediatrics (2016 - Present)
Medical Director, Cleft and Craniofacial Center (2014 - Present)
Associate Director, Medical Genetics Residency Program (2016 - Present)
Director, Medical Genetics Residency Program (2013 - 2016)

Professional Education

Board Certification: American Board of Medical Genetics and Genomics, Clinical Genetics and Genomics (2020)
Medical Education: Stanford University School of Medicine (2003) CA
Board Certification: American Board of Pediatrics, Pediatrics (2006)
Fellowship: Lucile Packard Children's Hospital (2008) CA
Residency: Lucile Packard Children's Hospital (2006) CA
PhD, Stanford University, Genetics (2003)

Contact

Academic Jon.Bernstein@stanford.edu

Administrative Contact - Academic Stephanie Martinez smart545@stanford.edu Tel: 650-498-4937

Clinical (Primary)

This is the primary clinic for this clinical provider. For additional clinical locations and information, please visit the link(s) listed below in the 'Additional Clinical Info' section.

Center for Academic Medicine- Genetics 453 Quarry Rd MC 5660 Stanford CA 94304 Tel: (650) 721-5804 Fax: (650) 498-4555

Additional Clinical Info

Stanford Medicine Children's Health

Current Research and Scholarly Interests

My research is focused on the diagnosis, discovery and delineation of rare genetic conditions with a focus of neurodevelopmental disorders. This work includes the application of novel computational methods and multi-omics profiling (whole genome sequencing, RNA sequencing, metabolomics). I additionally participate in an interdisciplinary project to develop induced pluripotent stem cell (iPSC) models of genetic neurodevelopmental disorders..

Clinical Trials

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Recruiting
More
The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.
Lead Sponsor
Stanford Investigators
- Jon Bernstein
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Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network Recruiting
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Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP), and the NIH Clinical Research Center (CRC) (1-3). The goals of the NIH UDP are to: (1) provide answers for patients with undiagnosed diseases; (2) generate new knowledge about disease mechanisms; (3) assess the application of new approaches to phenotyping and the use of genomic technologies; and (4) identify potential therapeutic targets, if possible. To date, the UDP has evaluated 3300 medical records and admitted 750 individuals with rare and undiagnosed conditions to the NIH Clinical Center. The NIH UDP has identified more than 70 rare disease diagnoses and several new conditions. The success of the NIH UDP prompted the NIH Common Fund to support the establishment of a network of medical research centers, the Undiagnosed Diseases Network (UDN), for fiscal years 2013-2020. The clinical sites will perform extensive phenotyping, genetic analyses, and functional studies of potential disease-causing variants. The testing performed on patients involves medically indicated studies intended to help reach a diagnosis, as well as research investigations that include a skin biopsy, blood draws, and DNA analysis. In addition, the UDN will further the goals of the UDP by permitting the sharing of personally identifiable phenotypic and genotypic information within the network. By sharing participant information and encouraging collaboration, the UDN hopes to improve the understanding of rare conditions and advance the diagnostic process and care for individuals with undiagnosed diseases.
Lead Sponsor
Stanford Investigators
View full details

2024-25 Courses

Independent Studies
- Directed Reading in Pediatrics
  PEDS 299 (Aut, Win, Spr)
- Early Clinical Experience
  PEDS 280 (Aut, Win, Spr)
- Graduate Research
  PEDS 399 (Aut, Win, Spr)
- Medical Scholars Research
  PEDS 370 (Aut, Win, Spr)
- Undergraduate Directed Reading/Research
  PEDS 199 (Aut, Win, Spr)

Prior Year Courses

2021-22 Courses

Human Genetics
GENE 202 (Aut)

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Education Resources

Jon Bernstein

Professor of Pediatrics (Genetics) and, by courtesy, of Genetics

Stanford Investigators

Stanford Investigators

2024-25 Courses

2021-22 Courses

Stanford Advisees

Jon Bernstein

Professor of Pediatrics (Genetics) and, by courtesy, of Genetics

Lead Sponsor

Stanford Investigators

Lead Sponsor

Stanford Investigators

2021-22 Courses