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."

• Biography

  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.

  • Related Pages

  • Hindbrain Malformation Research Program

• Patient Testimonials

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• Awards and Honors

  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

• Publications

  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

  Presentation 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	Jul 14, 2011
  Joubert syndrome: phenotype to genotype to mechanism	Newborn Brain Research Institute Seminar	University of California at San Francisco	Feb 17, 2011