Iris Schrijver
Academic Appointments
- Associate Professor - Med Center Line, Pathology
- Associate Professor - Med Center Line (By courtesy), Pediatrics
- Member, Cancer Center
Contact Information
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Clinical Offices
Department of Pathology 300 Pasteur Dr L235 MC 5324 Stanford, CA 94305 Tel Work (650) 724-2403 Fax (650) 724-1567Practices at Stanford Hospital and Clinics and Lucile Packard Children's Hospital
Professional Snapshot
Clinical Focus
- Pathology and Laboratory Medicine
- Clinical Molecular Genetics
- Anatomic/Clinical Pathology
Administrative Appointments
- Medical Director, Stanford Point-of-Care Testing, Stanford University (2003 - present)
- Director, Molecular Pathology laboratory, Stanford University (2003 - present)
Honors and Awards
- Sheard Sanford Pathology Resident Award, American Society for Clinical Pathology (2001)
Professional Education
| Board Certification: | Pathology Clinical, American Board of Pathology (2002) |
| Residency: | SUMC - Graduate Medical Education, CA (2002) |
| Internship: | SUMC - Graduate Medical Education, CA (2000) |
| Board Certification: | Clinical Molecular Genetics, American Board of Medical Genetics (1999) |
| Medical Education: | University of Utrecht, The Netherlands (1994) |
Scientific Focus
Research Interests
Cystic fibrosis
More than 1200 sequence variants have been described in the CFTR gene to date. Following recommendations by the American College of Medical Genetics and the American College of Obstetrics and Gynecology, mutation screening has become the standard of care for anyone who considers having children. The panel used most often for screening and diagnostic testing is severely biased towards Caucasians and although more comprehensive testing is available, it is not offered widely. In order to reduce the discrepancy in mutation detection between Caucasian individuals and those of other or mixed extraction, we (in collaboration with the Gardner laboratory and Asper) developed a rapid, highly sensitive and affordable diagnostic and research arrayed primer extension assay suitable for both diagnostic and screening use in multiple racial and ethnic groups, worldwide. Additional research is underway in the Schrijver laboratory to adequately map the mutation composition and individual frequencies in many previously understudied populations. However, this panel is expected to significantly raise the mutation detection ability above any currently commercially available diagnostic panel with a set number of detectable mutations. The APEX CF assay enables high-throughput testing at low cost on an individual basis and allows flexibility for future addition of mutations. Such improved diagnostics are expected to allow patient-tailored prognosis, treatment, and family-specific genetic counseling.
Sensorineural hearing loss
Tremendous progress has been made in our understanding of the molecular basis of hearing and hearing loss. Through recent advances, the fascinating biology of the auditory system and new molecular mechanisms of hearing impairment have begun to be unveiled. Changes in the diagnostic impact of genetic testing have occurred, as well as exciting developments in therapeutic options (such as cochlear implants). Molecular diagnosis, which is already...
Publications
- Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. Genet Med. 2009; (2): 118-26
- The role of the cytoskeleton in the formation of gap junctions by Connexin 30. Exp Cell Res. 2009; (10): 1683-92
- The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Biochem Biophys Res Commun. 2009; (2): 354-9
- Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn. 2009; (6): 553-61
- Genetic analysis of presbycusis by arrayed primer extension. Ann Clin Lab Sci. 2008; (4): 352-60
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