John W. Day, MD, PhD
Academic Appointments
- Professor - Med Center Line, Neurology & Neurological Sciences
- Member, Child Health Research Institute
- Professor - Med Center Line, Pediatrics - Medical Genetics
- Professor - Med Center Line (By courtesy), Pathology
Key Documents
Contact Information
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Clinical Offices
Department of Neurology 300 Pasteur Dr Rm A301 MC 5325 Stanford, CA 94305 Tel Work (650) 498-7551 Fax (650) 725-4197Practices at Stanford Hospital and Clinics and Lucile Packard Children's Hospital
- Academic Offices
Personal Information Email Tel (650) 725-7622Alternate Contact Angelica Martinez Administrative Assistant Email Tel Work 650-725-4341Not for medical emergencies or patient use
Professional Overview
Clinical Focus
- Neurology
Administrative Appointments
- Director, Neuromuscular Division and Clinics, Stanford University (2011 - present)
- Director, Paul and Sheila Wellstone Muscular Dystrophy Center, U of MN (2003 - 2011)
- Institute of Human Genetics, Executive Board, University of Minnesota (1999 - 2011)
- Associate Head for Clinical Affairs, Neurology Department, U of MN (1999 - 2001)
- Medical Director, Clinical, Neuroscience Research Unit (1997 - 2003)
- Director, Center for Muscle Disorders, University of Minnesota (1996 - 2003)
Honors and Awards
- Recognized among Best Physicians in Minnesota, Twin Cities Magazine (2010)
- All University Post-Baccalaureate Teaching Award, University of Minnesota (2007)
- All University Post-Baccalaureate Teaching Award, All University Post-Baccalaureate Teaching Award (2007)
- Distinguished Teaching Award, University of Minnesota Medical School (2005)
- Outstanding Teaching Award, University of Minnesota Medical School (2005)
- Distinguished Teaching Award, University of Minnesota Medical School (2003)
Professional Education
| Fellowship: | UCSF CA (1987) |
| Board Certification: | Neuromuscular Diseases, American Board of Psychiatry and Neurology (2011) |
| Board Certification: | Neurology, American Board of Psychiatry and Neurology (1988) |
| Residency: | UCSF CA (1986) |
| Internship: | Montefiore Hospital & Medical Center NY (1983) |
| PhD Training: | Albert Einstein College of Medicine NY (1982) |
Scientific Focus
Current Research Interests
Our Neuromuscular Division organizes a comprehensive effort to combat and conquer diseases of the peripheral nerves and muscles, including the muscular dystrophies (myotonic, Duchenne, limb girdle, facioscapulohumeral, and congenital muscular dystrophies), motor neuron disorders (ALS and SMA), neuromuscular junction disease (MG, CMS), and peripheral neuropathies (CMT, CIDP). While keeping the patients and families foremost in mind, our research seeks to: define and understand genetic causes; clarify the molecular and cellular consequences of genetic change; determine the multisystemic features that are underappreciated but clinically significant consequence of these diseases; develop and improve methods for managing and treating each disease.
We have identified the genetic cause of several neuromuscular disorders, most notably myotonic dystrophy type 2, which we continue to study to advance understanding of all forms of myotonic dystrophy. We have also contributed to genetic understanding of Duchenne muscular dystrophy, and other muscle and ataxic disorders. We are continuing to investigate the epigenetic and molecular consequences of these diseases through investigation of patient-derived specimens.
We have focused on defining the central nervous system features of neuromuscular disorders, which severely impact patients and families but have been incompletely investigated, explained or managed. Detailed neuropsychological and brain MRI studies are helping to define the developmental and progressive CNS aspects of these conditions, for which we then seek molecular and cellular explanations through cell-based studies of patient-derived specimens.
To assure our research is translatable to clinical practice, we are simultaneously involved in collaborative clinical research on novel treatments for neuromuscular disease, including antisense oligonucleotides and pharmacologic manipulation of muscle function, viral gene therapies and cell-based treatments.
In summary, we work with patients to define neuromuscular disorders more rigorously and understand them more thoroughly, so novel treatments will successfully combat these devastating disorders.
Publications
- 2010 Marigold therapeutic strategies for myotonic dystrophy. Neuromuscul Disord. 2012; (1): 87-94
- Cerebral and muscle MRI abnormalities in myotonic dystrophy. Neuromuscul Disord. 2012; (6): 483-91
- Clinical and genetic features of spinocerebellar ataxia type 8. Handb Clin Neurol. 2012: 493-505
- Spinocerebellar ataxia type 5. Handb Clin Neurol. 2012: 451-9
- Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. Nat Struct Mol Biol. 2011; (7): 840-5
- Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat. 2011; (3): 299-308
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