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Ian A. Glass, MB ChB, MD

On staff since November 2000

Children's Title: Clinical Director, Genetics Division; Program Director, Genetics Education; Clinical Director, Regional Genetics Program

Academic Title: Professor

Ian A. Glass, MBChB, MD, FACMG., is the director of Medical Genetics at Seattle Childrens Hospital and the director of the Alaska Genetics & Birth Defects Program. He is also a Professor of Pediatrics and Medicine at the University of Washington School of Medicine.

Seattle Childrens programs provide virtually all of the pediatric genetic services for the states of Washington and Alaska and as needed, serve the entire age spectrum by referral. Dr. Glass is an experienced genetics clinician who besides coordinating and conducting clinical services in multiple sites, undertakes specialized consultative services for neurogenetics, Joubert syndrome and other ciliopathies, skeletal dysplasia and cardiovascular genetics patients. He also conducts research in to the developmental bases of congenital anomalies in his laboratory, which has a long-established role as an important NIH funded nationwide core tissue resource for multiple scientific researchers. Dr. Glass also collaborates on a long standing research effort of the division in a successful project into the molecular bases of Joubert syndrome and related disorders of the cerebellum, now led by another division member. This group has been instrumental in the discovery of several novel Joubert syndrome genes and the developmental biology of these genes as well as improving the accuracy of diagnosis and quality of care for this group of patients.

Recommendations

RebeccaRichland,WA05.18.12

I am grateful Dr. Glass took the time to come to Richland to examine our daughter. He was very helpful and kind when explaining to us the ramifications of her genetic abnormality. Thank you, Dr. Glass.

Recommend Dr. Ian Glass

Overview
Publications
Presentations
Research Funding

Overview

Board Certification(s): Clinical Genetics (MD)
Medical/Professional School: University of Otago, Dunedin
University of Otago, Dunedin
Residency: Pediatrics, Queen Elizabeth Hospital for Children, London
Pediatrics, University College Hospital - London UK, London
Pediatrics, Royal Hospital for Sick Children, Glasgow
Medical Genetics, Birmingham Maternity Hospital, Birmingham
Fellowship: Medical Genetics, University of California - San Francisco, San Francisco
Clinical Genetics, Mount Sinai School of Medicine, New York
Research Focus Area: Genetics and Developmental Biology

Publications

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Journal of medical genetics , 2012 Feb: 49(2)126-37

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Nature genetics , 2012 Jan 15: 44(2)193-9

EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis.
Skeletal radiology , 2011 Sep 4

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
Acta neuropathologica , 2011 Apr: 121(4)545-54

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.
Acta neuropathologica , 2010 Sep 21

Eye movement abnormalities in Joubert syndrome.
Investigative ophthalmology & visual science , 2009 Oct: 50(10)4669-77

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
The Journal of pediatrics , 2009 Sep: 155(3)386-92.e1

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia , 2009 May: 50(5)1167-75

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia , 2009 May: 1167-75

Other chromosomal disorders
Current Management in Child Neurology , 2009: 4th edition367-374

The CC2D2A gene is mutated in Joubert syndrome and implicated in the function of the primary cilium/basal body
, Nov. 13, 2008

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
American journal of human genetics , 2008 Nov: 83(5)559-71

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

The molar tooth sign in 2 patients with features of Pallister Hall syndrome: evidence that Joubert syndrome has mechanistic overlap with sonic hedgehog signalling pathways
, Aug. 8, 2008 - Aug. 13, 2008

Clinical features in 20 families with coach syndrome: causative mutations identified in more than one ciliary gene
, Aug. 8, 2008 - Aug. 13, 2008

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
American journal of human genetics , 2008 Aug: 83(2)170-9

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
American journal of human genetics , 2008 Aug: 170-9

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
Molecular cytogenetics , 2008 Apr 21: 17

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
Molecular Cytogenetics , 2008 Apr 21: 7

Mutations in the gene encoding the basal body protein RPGRIP1L, a novel nephrocystin-4 interactor, cause Joubert syndrome
, Oct. 27, 2007

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
Journal of medical genetics , 2007 Oct: 44(10)657-63

Joubert syndrome: The New Ciliopathy
, June 22, 2007

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nature genetics , 2007 Jul: 39(7)882-8

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: 15(5)511-21

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 utilizing ultrasound and MRI: review and proposed screening protocol
, March 21, 2007 - March 25, 2007

A case of true hermaphroditism reveals an unusual mechanism of twinning.
Human genetics , 2007 Apr: 121(2)179-85

A case of true hermaphroditism reveals an unusual mechanism of twinning.
Human genetics , 2007 Apr: 179-85

Outcomes in fetuses with abnormal posterior fossa imaging findings
, Nov. 9, 2006 - Nov. 12, 2006

Aortic root dilatation is a rare complication of Noonan syndrome.
Pediatric cardiology , 2006 Jul-Aug: 27(4)478-80

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Neurobiology of disease , 2006 Jul: 23(1)97-108

Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
European journal of medical genetics , 2006 Jul-Aug: 49(4)346-8

Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin.
European journal of medical genetics , 2006 Jul-Aug: 346-8

Aortic root dilatation is a rare complication of Noonan syndrome.
Pediatric cardiology , 2006 Jul-Aug: 478-80

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nature genetics , 2006 Jun: 38(6)674-81

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Nature genetics , 2006 Jun: 674-81

Ring chromosome 15: characterization by array CGH.
Human genetics , 2006 Jan: 118(5)611-7

Ring chromosome 15: characterization by array CGH.
Human genetics , 2006 Jan: 611-7

Joubert syndrome: a paradigm for prenatal diagnosis of specific hindbrain malformations by ultrasound and MRI
, Oct. 26, 2005 - Oct. 29, 2005

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis , 2005 Jun: 25(6)442-7

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis , 2005 Jun: 442-7

COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria
, Oct. 26, 2004 - Oct. 30, 2004

COACH syndrome: description of 3 new cases and proposed minimal diagnostic criteria for this cerebello-oculo-renal disorder
, Aug. 18, 2004 - Aug. 21, 2004

Spondylometaphyseal dysplasia with cone-rod dystrophy.
American journal of medical genetics. Part A , 2004 Sep 1: 129A(3)265-76

Spondylometaphyseal dysplasia with cone-rod dystrophy.
American journal of medical genetics. Part A , 2004 Sep 1: 265-76

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
American journal of human genetics , 2004 Jul: 75(1)82-91

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
American journal of human genetics , 2004 Jul: 82-91

Genotype-phenotype correlation in congenital heart disease
Curr Opin Cardiol , May 2004: 19(3)221-7

Genotype-phenotype correlation in congenital heart disease.
Current opinion in cardiology , 2004 May: 19(3)221-7

Genotype-phenotype correlation in congenital heart disease.
Current opinion in cardiology , 2004 May: 221-7

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
Journal of child neurology , 2004 Mar: 19(3)214-8

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
American journal of medical genetics. Part A , 2004 Mar 1: 125A(2)117-24; discussion 117

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
American journal of medical genetics. Part A , 2004 Mar 1: 125A(2)125-34; discussion 117

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
American journal of medical genetics. Part A , 2004 Mar 1: 125-34; discussion 117

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
Journal of child neurology , 2004 Mar: 214-8

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.
American journal of medical genetics. Part A , 2004 Jan 15: 124A(2)136-41

The spectrum of conditions with the molar tooth sign: more than just Joubert syndrome
, Nov. 4, 2003 - Nov. 8, 2003

Ring 15 syndrome: Clinical cytogenetic and comparative genomic hybridization-array characterization of two discordant de novo cases
, Nov. 4, 2003 - Nov. 8, 2003

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Epilepsia , 2003 Dec: 44(12)1529-35

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Epilepsia , 2003 Dec: 1529-35

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
American journal of medical genetics. Part A , 2003 Jul 15: 120A(2)157-68

A report of dizygous monochorionic twins.
The New England journal of medicine , 2003 Jul 10: 349(2)154-8

A report of dizygous monochorionic twins.
The New England journal of medicine , 2003 Jul 10: 154-8

The Joubert syndrome (autosomal recessive cerebellar vermis hypoplasia with brainstem malformations): A Multiplex linkage approach to disease mapping and exclusion of the ZlC1 gene
, May 6, 2003

Multiple fetal anomalies associated with subtle subtelomeric chromosome rearrangements
, Oct. 15, 2002 - Oct. 19, 2002

Upper limb phocomelia associated with increased nuchal translucency in a monochorionic twin pregnancy.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine , 2002 Mar: 21(3)355-60

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
The Australasian journal of dermatology , 2002 Feb: 43(1)28-34

Clinical and molecular heterogeneity for Madelung deformity of childhood
, Oct. 12, 2001 - Oct. 16, 2001

Leri Weill dyschondrosteosis caused by SHOX splicing mutation
, Oct. 3, 2000 - Oct. 7, 2000

Molecular genetics of congenital erythropoietic porphyria
Sem Liver Dis , 1998: 1877-84

SHOX-Related Haploinsufficiency Disorders
, 1993

Joubert Syndrome
, 1993

Application of DNA probes in Fragile X syndrome
Application of molecular genetics to the diagnosis of inherited disease , 1990

AHl1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
,

Presentations

Presentations Title	Event	Location	Date
When cilia go bad	Pediatric Grand Rounds, Seattle Children's Hospital	Seattle, WA	Dec. 10, 2010
When cilia go bad	Pediatric Grand Rounds, Providence Medical Center	Anchorage, AK	May 19, 2010
Advances in understanding Joubert Syndrome	Pediatric Grand Rounds, Alaska Native Medical Center	Anchorage, AK	Jan. 26, 2008
Prenatal diagnosis of orthopedic disorders	Staheli Orthopedic Conference, Seattle Children's Hospital	Seattle, WA	Jan. 26, 2008
Advances in understanding Joubert Syndrome	Medical Genetics Grand Rounds, University of Washington	Seattle, WA	Dec. 14, 2007
Prenatal diagnosis of hindbrain malformations	Cerebellar Development: From Bench to Bedside, 2006 International Conference	Washington, DC	Nov. 9, 2006 - Nov. 12, 2006
Genotype-phenotype correlations in Joubert syndrome	11th International Congress of Human Genetics	Brisbane, Australia	Aug. 10, 2006
The impact of the human genome project on pediatrics	WAAMI, Port Angeles Pediatrics Group	Port Angeles, WA	May 23, 2006
Pyridoxine dependent seizures	Neurology Grand Rounds, University of Washington	Seattle, WA	March 12, 2005
Prenatal diagnosis for Joubert syndrome	Joubert Syndrome Foundation 7th Biennial Conference	St. Louis, MO	July 28, 2004
The impact of the human genome project on medical care	WAAMI, Madrona Medical and Pediatrics Practice	Bellingham, WA	April 7, 2004
The impact of the human genome project on pediatric care	Pediatrics update symposium	Tacoma, WA	Sept. 27, 2003
The impact of the human genome project on medical care	Genetics symposium, Barbara Bush Children's Hospital	Portland, ME	June 5, 2003
Pyridoxine dependent seizures	Medical Genetics Grand Rounds, University of Washington	Seattle, WA	March 12, 2003
The impact of the human genome project on prenatal diagnosis	Ultrasound training course	Seattle, WA	Sept. 8, 2002
The impact of the human genome project on the future of pediatric care	Platform presentation, National Associaton of Childrens Hospitals Annual national meeting (NACHRI)	Seattle, WA	July 1, 2002
Molecular genetics of Madelung deformity of childhood	Medical Genetics Grand Rounds, University of Washington	Seattle, WA	Oct. 26, 2001
Genetic disorders and teenage mental health	Platform Presentation, Primary Care National Conference	Seattle, WA	Sept. 21, 2001
Beyond the outback: Practical applications for the new genetics	Pediatric Grand Rounds, University of Washington	Seattle, WA	June 28, 2001
The practice of medical genetics in Australia	Grand Rounds, Alaska Regional Medical Center	Anchorage, AK	Nov. 28, 2000

Research Funding

Grant Title	Grantor	Amount	Award Date
NIH R24HD00836-44	Laboratory of Developmental Biology	$, 474,321	Jan. 31, 2011 - Jan. 31, 2016
3R24HD000836-45S1	Laboratory of Developmental Biology	$, 82,326	Sept. 30, 2009 - Jan. 31, 2011
Gene Identification in Joubert Syndrome: To identify genetic causes of Joubert syndrome using global expression profiling and SNP mapping	University of Washington Royalty Research Fund	$, 37,500	Sept. 1, 2007 - Aug. 31, 2009
Genetic analyses of cerebellar malformations - 1K24 HD046712-01A1		$, 97,179	Feb. 1, 2005 - Jan. 31, 2010
Genetics of Joubert syndrome and related disorders	March of Dimes Endowment for Health Babies, WA Chapter	$, 75,000	Nov. 30, 2002 - Aug. 30, 2004
Dystrophic epidermolysis bullosa research association (DEBRA)		$, 70,000	Feb. 1, 2000 - Jan. 31, 2002
Role of SHOX in human short stature	Royal Children's Hospital Foundation, Brisbane, Australia	$, 40,000	Jan. 1, 1999 - Dec. 31, 2001
Characterize the genetic basis of short statute	Royal Children's Hospital Foundation, Brisbane, Australia	$, 50,000	Jan. 1, 1998 - Dec. 31, 1999
Molecular basis of craniofacual disorders	Royal Children's Hospital Foundation, Brisbane, Australia	$, 55,000	Jan. 1, 1998 - Dec. 31, 1999
Role of SHOX in Leri Weill syndrome and human stature	Royal Children's Hospital Foundation, Brisbane, Australia	$, 165,000	Jan. 1, 1998 - Dec. 31, 2002
Molecular basis of Leri Weill syndrome	Royal Children's Hospital Foundation, Brisbane, Australia	$$51,000	Jan. 1, 1998 - Dec. 31, 2000
2R24HD000836-46	Laboratory of Developmental Biology	$, 377,568	May 1, 1979 - Jan. 31, 2011
PI	Laboratory of Developmental Biology	$$377,568	May 1, 1979 - Jan. 31, 2011

Primary Office

Seattle Children's

OC.9.850 - Medical Genetics
4800 Sand Point Way NE

Seattle, WA 98105

206-987-2056

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Ian A. Glass, MB ChB, MD

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