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."
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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.
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Related Pages
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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
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Ishak GE, Dempsey, JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass IA, Rue TC, Millen KJ, Dobyns WB, Doherty DRhombencephalosynapsis: 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 RFJoubert 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 DGenotype-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 DThe 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 KMTMEM237 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 YCOL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
Neuropediatrics, 2011 : Epub ahead PMCID:22134833
Other Publications
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Stratigopoulos G, Martin Carli JF, O'Day DR, Wang L, Leduc CA, Lanzano P, Chung WK, Rosenbaum M, Egli D, Doherty DA, Leibel RLHypomorphism 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 RLHypomorphism 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 WBBeyond 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 SCOL4A1-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 PKMapping 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 JBIdentification 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 JOEye 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 APOFD1 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 WAMKS3-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 DJoubert 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 MAddendum. 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 DCC2D2A 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 RMutations 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 IAJoubert 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 DPrenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
15966043 Prenatal diagnosis, 2005 June : 442-7 -
Doherty DPhysiotherapy 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
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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
Overview
- Board Certification(s)
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Developmental-Behavioral Pediatrics
- Medical/Professional School
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University of California San Francisco School of Medicine, San Francisco, CA
- Residency
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University of Washington School of Medicine, Seattle, WA
- Fellowship
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University of Washington School of Medicine, Seattle, WA
- Clinical Interests
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Care of children with brain malformations; prenatal counseling for fetal brain malformations; cultural factors in medical care; Joubert Research Program
- Research Focus Area
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Neuroscience / Neurodevelopment, Translational Research