Daniel A Doherty, MD, PhD

Daniel A Doherty, MD, PhD

Neurodevelopmental Pediatrics, Fetal Care and Treatment Center, Neonatal Neurocritical Care Unit (Neuro NICU)

On staff since July 2005

Children's Title: Interim Division Chief, Neurodevelopmental Program

Academic Title: Professor

Research Center: 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."

  • 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.

    • CaryLyn LILLIWAUP 08.17.19

      I met Dr Doherty many years ago, while he was doing his residency at Seattle Children's. My late son and I had been underserved within the Tacoma area and my stressed out emotional scared to death self was spinning circles with no one following my sons care. It was horrible. We were finally introduced to Dan. Dan agreed to take on my son as his primary. I could never express how wonderful it was to have one highly skilled compassionate person direct his care. Dan gifted me and mine a sense of order and peace in a chaotic emotional place. Additionally, it's refreshing to have a doctor confident enough to answer "I dont know, but let's look it up." Emotional moms do not have patience for docs who BS you. Fast forward a few years, I am now the nurse who takes care of children like my sweet baby. I always recommend Dan to my neuro kiddos.... He is amazing. C. Sunflower Miles (formerly Smith) Sweet Jakeee Smith's mom

    • Christiana Oklahoma City, OK 04.04.16

      Dr. Doherty is an amazing doctor and is very willing to answer any questions you may have without making you feel silly. He is very knowledgeable and is able to help you understand your diagnosis fully. He explains things clearly and concisely. His staff was amazing as well, especially his nurse, Sara(h) Coburn. She moved mountains to work with us to get an appointment at the last minute. She was very patient and very kind. I would highly recommend Dr. Doherty to anyone.

    • 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.

  • Award Name Award Description Awarded By Award Date
    SEATTLE TOP DOCTOR - 2022 Seattle Magazine 2022
    SEATTLE TOP DOCTOR - 2019 Seattle Magazine 2019
    SEATTLE'S TOP DOCTOR - 2018 Seattle Magazine 2018
    SEATTLE'S TOP DOCTOR - 2017 Seattle Magazine 2017
    SEATTLE'S TOP DOCTOR - 2016 Seattle Magazine 2016
    Basil O'Connor Award March 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
  • Manuscripts in Refereed Journals

    • Ishak GE, Dempsey, JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass IA, Rue TC, Millen KJ, Dobyns WB, Doherty D
      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
    • Juric-Sekhar G, Adkins J, Doherty D, Hevner RF
      Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia
      Acta Neuropathologica, 2012 : in press
    • Bachmann-Gagescu R, Ishak GE, Dempsey J, Adkins J, ODay D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D
      Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
      Journal of Medical Genetics, 2012 : 49(2)126-37 PMCID:22241855
    • 7. Bachmann-Gagescu R, Phelps IG, Stearns G, Link BA, Brockerhoff SE, Moens CB, Doherty D
      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 PMCID:2181694
    • 5. Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Mller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nrnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM
      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 PMCID:22152675
    • Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y
      COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
      Neuropediatrics, 2011 : Epub ahead PMCID:22134833

    Other Publications

    • 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.
      24807221 Cell metabolism, 2014 May 6 : 19(5)767-79 PMCID:PMC4131684
    • 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.
      24807221 Cell metabolism, 2014 May 6 : 19(5)767-79 PMCID:PMC4131684
    • Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB
      Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
      22965664 American journal of medical genetics. Part A, 2012 Oct. : 158A(10)2393-406 PMCID:PMC3448816
    • 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.
      22932948 Neuropediatrics, 2012 Oct. : 43(5)283-8
    • Juric-Sekhar G, Adkins J, Doherty D,* Hevner RF.*
      Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia.
      Acta Neuropathologica, 2012 : in press
    • 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.
      21565611 Cell, 2011 May 13 : 513-28
    • 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.
      20004765 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.
      19443711 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.
      19800048 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.
      19540516 The Journal of pediatrics, 2009 Sept. : 386-92.e1
    • Doherty D
      Joubert syndrome: insights into brain development, cilium biology, and complex disease.
      19778711 Seminars in pediatric neurology, 2009 Sept. : 143-54
    • 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.
      19068953 American journal of human genetics, 2008 Nov. : 656
    • 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.
      18950740 American journal of human genetics, 2008 Nov. : 559-71
    • 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.
      17558407 Nature genetics, 2007 July : 882-8
    • Parisi MA, Doherty D, Chance PF, Glass IA
      Joubert syndrome (and related disorders) (OMIM 213300).
      17377524 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.
      15966043 Prenatal diagnosis, 2005 June : 442-7
    • Doherty D
      Physiotherapy compared with advice for low back pain: study supports concept of self management of pain...
      15591572 BMJ (Clinical research ed.), 2004 Dec. 11 : 1402; discussion 1403

  • 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


Board Certification(s)

Developmental-Behavioral Pediatrics

Medical/Professional School

University of California San Francisco School of Medicine, San Francisco, CA


University of Washington School of Medicine, Seattle, WA


University of Washington School of Medicine, Seattle, WA

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