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Daniel A. Doherty, MD, PhD

Daniel A. Doherty, MD, PhD

Developmental Pediatrics

On staff since July 2005

Academic Title: Associate Professor

Research Center(s): Center for Clinical and Translational Research, Center for Integrative Brain Research

"Improving the lives of patients and understanding human brain development are the parallel goals that motivate my work. The excitement of identifying the genetic cause of a brain malformation is just the beginning. Understanding the disease mechanism and translating that knowledge into improved information and treatments for patients is the real payoff."

Making a Difference

  • Mentoring Talented Junior Faculty

    An academic medical center and research institute, Seattle Children’s is dedicated to helping junior faculty establish research careers. Recently, several of our emerging genetics researchers have made significant contributions to their field.... cont.


DanaIssaquah, WA07.23.13
Dr. Doherty was a pleasure to work with in a less than desirable situation. His demeanor and attitude immediately put my husband and I at ease when we sat down to talk with him. As Dr. Doherty explained his findings, he did so in a way that was technical, but also easy to understand. We are so thankful to have to have someone like Dr. Doherty in his field doing what he does. I would highly recommend him to any parents that has a child that is diagnosed with a brain malformation.
Recommend Dr. Daniel Doherty


Board Certification(s)
Developmental-Behavioral Pediatrics
Medical/Professional School
University of California, San Francisco, San Francisco
Pediatrics, University of Washington School of Medicine, Seattle
Developmental-Behavioral Pediatrics, University of Washington School of Medicine, Seattle
Clinical Interests

Care of children with brain malformations; prenatal counseling for fetal brain malformations; cultural factors in medical care; Joubert Research Program


Research Focus Area

Translational Research, Neuroscience / Neurodevelopment

Awards and Honors

Award NameAward DescriptionAwarded ByAward Date
Basil O'Connor AwardMarch of Dimes 2009
Harborview Medical Center Housestaff Humanitarian Award Runner Up 2001
Children's Hospital and Regional Medical Center Resident Family Choice Award nominee 2001
UCSF Medical Scientist Training Program Grant for M.D.,Ph.D. 1986


Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Journal of Medical Genetics , 2012: 49(2)126-37
Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia.
Acta Neuropathologica , 2012: in press
Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia
Acta Neuropathologica , 2012: in press
Rhombencephalosynapsis: an under-recognized hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus, and a broad spectrum of severity
Brain , 2012: in press
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Cell , 2011 May 13: 513-28
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
Hum Mol Genet , 2011: 20(20)4041-55
COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
Neuropediatrics , 2011: Epub ahead of print
TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone
Am J Hum Genet , 2011: 89(6)713-30
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
American journal of human genetics , 2009 Dec: 909-15
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
American journal of human genetics , 2009 Oct: 465-81
Eye movement abnormalities in Joubert syndrome.
Investigative ophthalmology & visual science , 2009 Oct: 4669-77
Joubert syndrome: insights into brain development, cilium biology, and complex disease.
Seminars in pediatric neurology , 2009 Sep: 143-54
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
The Journal of pediatrics , 2009 Sep: 386-92.e1
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
American journal of human genetics , 2008 Nov: 656
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
American journal of human genetics , 2008 Nov: 559-71
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nature genetics , 2007 Jul: 882-8
Joubert syndrome (and related disorders) (OMIM 213300).
European journal of human genetics : EJHG , 2007 May: 511-21
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis , 2005 Jun: 442-7
Physiotherapy compared with advice for low back pain: study supports concept of self management of pain...
BMJ (Clinical research ed.) , 2004 Dec 11: 1402; discussion 1403
Crab allergen exposures aboard five crab-processing vessels.
AIHA journal : a journal for the science of occupational and environmental health and safety , 2002 Sep-Oct: 605-9


Presentations TitleEventLocationDate
Rhombencephalosynapsis: An under-recognized disorder associated with aqueductal stenosis and a wide spectrum of severity.American Society for Human Genetics 61st Annual Meeting 2011Montreal, Quebec, CanadaOct. 14, 2011
Joubert syndrome: Clinical features and genetic causesJoubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, Enhancing Clinical Care (NIH sponsored)Orlando, FLJuly 14, 2011
Joubert syndrome: phenotype to genotype to mechanismNewborn Brain Research Institute SeminarUniversity of California at San FranciscoFeb. 17, 2011

Research Funding

Grant TitleGrantorAmountAward Date
Joubert Syndrome Biennial Conferences: advancing Translational Ciliopathy Research National Institute of Child Health and Human DevelopmentJan. 1, 2011
Joubert syndrome and related disorders of hindbrain developmentNational Institute of HealthJuly 1, 2010

Primary Office

Seattle Children's
OC.9.840 - Neurodevelopmental
4800 Sand Point Way NE
Seattle, WA 98105

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