Daniel A. Doherty, MD, PhD

Daniel A. Doherty, MD, PhD

Developmental Pediatrics

On staff since July 2005

Academic Title: Associate Professor

Research Center: Center for Clinical and Translational 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."

Daniel A. Doherty, MD, PhD, research interests focus on hindbrain malformations as a way to understand human brain development and common disorders such as intellectual disability, autism, ataxic cerebral palsy and even mental health disorders such as schizophrenia. The hindbrain regulates basic functions (level of consciousness, heart rate, respiratory rate), coordinates balance, limb and eye movements, as well as having possible roles in cognition and emotional regulation.

His group uses a variety of genetic techniques (SNP mapping, array CGH, and high throughput sequencing) to identify the genes responsible for hindbrain malformation disorders such as Joubert syndrome. Identifying the genes responsible for a disorder immediately translates into molecular diagnostic testing, and detailed work on genotype-phenotype correlations improves diagnostic, prognostic and medical management information for patients. In addition, Dr. Dohertys group and his collaborators use the disease genes to dissect the molecular mechanisms of normal and abnormal brain development in vitro and in animal models. The human hindbrain is a fascinating system in which to study the role of basic developmental processes (spatially restricted gene expression to define positional information, organizing centers, morphogenetic movements, cell-cell and long-range signaling, cell migration and axon guidance) in human disease. Dr. Dohertys clinical interests complement the research interests of his group. He cares for children with all types of central nervous system abnormalities including Joubert syndrome, other hindbrain malformations, agenesis of the corpus callosum, cortical malformations, hydrocephalus, spina bifida, intellectual disability and cerebral palsy. He also provides prenatal counseling to women carrying fetuses with abnormal CNS imaging findings to provide a pediatric perspective on these conditions.

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.


  • Dana Issaquah, WA 07.23.13

    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.


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


  • Stratigopoulos G, Martin Carli JF, O'Day DR, Wang L, Leduc CA, Lanzano P, Chung WK, Rosenbaum M, Egli D, Doherty DA, Leibel RL
    Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
    Cell metabolism , 2014 May 6 : 19(5)767-79
  • Tonduti D, Pichiecchio A, La Piana R, Livingston JH, Doherty DA, Majumdar A, Tomkins S, Mine M, Ceroni M, Ricca I, Balottin U, Orcesi S
    COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
    Neuropediatrics , 2012 Oct. : 43(5)283-8
  • Daniel A. Doherty, MD, PhD
    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
  • Daniel A. Doherty, MD, PhD
    Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia
    Acta Neuropathologica , 2012 : in press
  • Daniel A. Doherty, MD, PhD
    Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia.
    Acta Neuropathologica , 2012 : in press
  • Daniel A. Doherty, MD, PhD
    Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
    Journal of Medical Genetics , 2012 : 49(2)126-37
  • Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK
    Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
    Cell , 2011 May 13 : 513-28
  • Daniel A. Doherty, MD, PhD
    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
  • Daniel A. Doherty, MD, PhD
    COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
    Neuropediatrics , 2011 : Epub ahead of print
  • Daniel A. Doherty, MD, PhD
    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
  • Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB
    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
  • Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO
    Eye movement abnormalities in Joubert syndrome.
    Investigative ophthalmology & visual science , 2009 Oct. : 4669-77
  • Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP
    OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
    American journal of human genetics , 2009 Oct. : 465-81
  • Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA
    MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
    The Journal of pediatrics , 2009 Sept. : 386-92.e1
  • Doherty D
    Joubert syndrome: insights into brain development, cilium biology, and complex disease.
    Seminars in pediatric neurology , 2009 Sept. : 143-54
  • Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D
    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
  • Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Paterson AD, Lutufullah M, Doherty D, Vincent JB, Ayub M
    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
  • Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R
    Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
    Nature genetics , 2007 July : 882-8
  • Parisi MA, Doherty D, Chance PF, Glass IA
    Joubert syndrome (and related disorders) (OMIM 213300).
    European journal of human genetics : EJHG , 2007 May : 511-21
  • Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D
    Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
    Prenatal diagnosis , 2005 June : 442-7
  • Doherty D
    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
  • Beaudet N, Brodkin CA, Stover B, Daroowalla F, Flack J, Doherty D
    Crab allergen exposures aboard five crab-processing vessels.
    AIHA journal : a journal for the science of occupational and environmental health and safety , 2002 Sept. : 605-9


Presentations Title Event Location Date
Rhombencephalosynapsis: An under-recognized disorder associated with aqueductal stenosis and a wide spectrum of severity. American Society for Human Genetics 61st Annual Meeting 2011 Montreal, Quebec, Canada Oct. 14, 2011
Joubert syndrome: Clinical features and genetic causes Joubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, Enhancing Clinical Care (NIH sponsored) Orlando, FL July 14, 2011
Joubert syndrome: phenotype to genotype to mechanism Newborn Brain Research Institute Seminar University of California at San Francisco Feb. 17, 2011

Research Funding

Grant Title Grantor Amount Award Date
Joubert Syndrome Biennial Conferences: advancing Translational Ciliopathy Research National Institute of Child Health and Human Development Jan. 1, 2011
Joubert syndrome and related disorders of hindbrain development National Institute of Health July 1, 2010