The Molecular Ophthalmic Genetics Laboratory is interested in human gene mapping, gene identification, mutation screening, population studies as well as in vivo and in vitro analyses of a number of human disease genes that were previously identified by our team.Our enterprise is to study biological pathways that are involved in the etiology of a group of blinding ocular disorders collectively known as, Glaucoma. In addition to 4 Glaucoma-causing genes previously identified by our group (CYP1B1, OPTN, WDR36 & GLC1D), we are currently aiming to identify & study the interaction of 100s of new genes that are expected to be involved in the etiology of different forms of Glaucoma, by employing a large collection of familial and sporadic cases and by utilizing the Next-Generation Exome & DNA Sequencing Methodologies. Ultimately, this translational research provides a valuable correlation matrix between the types of genes mutations (genotype) and variety of clinical presentations (phenotype) thus, paving the path for better patient management, drug development, Genome-based therapy and a comprehensive Personalized Genomic Medicine.

Education

Degree	Institution	Major
BSc	University of Ferdowsi (Mashhad)	General Biology
PhD	University of Wales College of Medicine	Human Genetics

Post-Graduate Training

Training	Institution	Specialty
Fellowship	Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom	Human Genetics, Disease Gene Mapping, Linkage & Statistical Analyses, Database Management System & Software Developments

Awards

Name of Award/Honor	Awarding Organization
Connecticut Knight of Blind Presented To Mansoor Sarfarazi, PhD, FARVO for the Dedicated Humanitarian Service; Connecticut Lions Eye Research Foundation INC".	CT Eye Research Foundation
FARVO: Silver Fellow of ARVO (The Association for Research in Vision and Ophthalmology; Rockville, Maryland)	Association for Research in Vision & Ophthalmology
Invitee at the 19th Annual Glaucoma Foundation Optic Nerve Rescue and Restoration Think Tank meeting (Sep. 2012) on EXFOLIATION SYNDROME: GEARING UP FOR A CURE	The Glaucoma Foundation; New York, N.Y.
Visiting Professor (Jan. 2010): Glaucoma Genetics: Past, Present and Future	Indiana University, Department of Ophthalmology
Invitee at the 17th Annual Glaucoma Foundation Optic Nerve Rescue and Restoration Think Tank meeting (Sep. 2010) on COMPLEX GENETICS AND GENOMICS: METHODS FOR BREAKTHROUGHS	The Glaucoma Foundation; New York, N.Y.
Visiting Professor (Apr. 2009): Review of Glaucoma Genetics	Hong Kong University, Department of Ophthalmology
Visiting Professor (Apr. 2009): Mapping of Disease Genes	Hong Kong Hospital Authority Training Program
Keynote Speaker (Apr. 2009): Impact of Bioinformatics on Genomic Research	Hong Kong Hospital Authority Training Program
Invitee at the 16th Annual Glaucoma Foundation Optic Nerve Rescue and Restoration Think Tank meeting (Sep. 2009) on "EXFOLIATION SYNDROME: THE FIRST POTENTIALLY CURABLE GLAUCOMA"	The Glaucoma Foundation; New York, N.Y.
Invited Speaker (Dec. 2008): Glaucoma Genetics: Past, Present and Future	Center for Molecular Medicine, UCHC
Invited Speaker (Nov. 2008): Molecular Challenges in Glaucoma Genetics	General Clinical Research Center, UCHC
Invited Speaker at The World Ophthalmology Conference (WOC-IMBG) (Jul. 2008): The Glaucoma Genes	Hong Kong, China
Visiting Professor (Jul. 2008): Challenges in Glaucoma Genetics	Zhongshan Ophthalmic Center, Guangzhou, China
Visiting Professor (Jul. 2008): Functional Approaches to Gene Mapping and Gene Selection	World Ophthalmology Conference (WOC-IMBG)
The Julius Silver Visiting Professor Lecture (Jun. 2007): Clinical and Molecular Challenges in Glaucoma Genetics	New York Univ. School of Medicine, Ophthalmology
Invited Speaker (Feb. 2007): Application of Molecular Genetics in Inherited Ocular Disorders and Patient Management	Surgery Research Day, Ophthalmology, UCHC
JULES AND DORIS STEIN RPB PROFESSORSHIP (2007): In Recognition of Superior Scientific Endeavor and, for advancing research efforts to preserve and restore vision, bringing hope to millions threatened with loss of sight	Research to Prevent Blindness (RPB)
Visiting Professor (Jul. 2006): Utilization of Genetic, Genomic & Proteomic in Glaucoma Gene Discovery	Moorfields Eye Hospital, London, U.K.
Visiting Professor (Aug. 2006): Concepts of Functional Genomics; The 7th Asia Pacific Society of Eye Genetics Symposium (APSEG)	Hong Kong University, Department of Ophthalmology
Visiting Professor (Jul. 2006): Utilization of Genetic, Genomic & Proteomic in Glaucoma Gene Discovery	Cole Eye Institute, Cleveland, OH
Visiting Professor (Oct. 2006): Common Challenges in Glaucoma Genetics	Cole Eye Institute, Cleveland, OH
Visiting Professor (Sep. 2006): Application of Molecular Genetics to Glaucoma Risk Assessment and Patient Managements	New York Eye & Ear Infirmary
Keynote Speaker at The 7th Asia Pacific Society of Eye Genetics Symposium (APSEG); (Aug. 2006): Common Challenges in Glaucoma Genetics	Hong Kong University, Department of Ophthalmology
Keynote Speaker at The International Symposium of Ophthalmology (ISO); (Aug. 2006): Application of Glaucoma Genetics in Patient Management	Hong Kong, China
Invited Speaker (Feb. 2005): Advances in Molecular Genetics of Glaucoma: From Gene Mapping to Protein Expression Profiling	Ophthalmology Grand Round, UCHC
Keynote Speaker (Sep. 2005): Gene Identification and Protein Characterization of Glaucoma-Causing Molecules	Ocular Cell & Molecular Biology; Sarasota, FL
Visiting Professor (Dec. 2004): Advances in Molecular Genetics of Glaucoma: From Gene Mapping to Protein Expression Profiling	University of Miami, Ophthalmology; Miami, FL
Visiting Professor (Nov. 2003): Gene Cloning, Protein Characterization and Mutation Screening of Optineurin in Adult-Onset Primary Open Angle Glaucoma	University of Southern California; Los Angeles, CA
Keynote Speaker at the Finnish Glaucoma Society Annual Meeting (Apr. 2003): Glaucoma Genetics: Past, Present and Future	University of Helsinki; Helsinki, Finland
Invited Speaker (Apr. 2003): Role of Optineurin in Patients with Low Pressure Glaucoma (LPG)	University of Erlangen LPG Workshop; Germany
Invited Speaker (Apr. 2003): Molecular Genetics of Pseudoexfoliation Syndrome (PEX): An Update	University of Erlangen PEX Workshop; Germany
Visiting Professor (Jun. 2003): Molecular Genetics Studies of Glaucoma: A Decade of Achievements and Setbacks	University of Alberta, Canada
Visiting Professor (Feb. 2003): Molecular Characterization of Open Angle Glaucoma	Yale Eye Center Grand Round; New Haven, CT
The Clement McCulloch Keynote Lecture (May 2002): Impact of Molecular Genetics on Management and Diagnosis of Glaucoma; Department of Ophthalmology and Vision Sciences Annual Department Research Day	University of Toronto, Canada
Visiting Professor (Jun. 2002): Molecular Determination and Characterization of Glaucoma-Causing Genes	Washington Univ., Ophthalmology; St. Louis, MO
Invited Speaker (Sep. 2000): Genetics of Primary Lymphedema	National Lymphedema Network
The George Spaeth Keynote Lecture (Mar. 2000): The Impact of the Human Genome Project on Your Lives and the Lives of Your Patients	Wills Eye Hospital, Philadelphia, PA
Invited Speaker (Mar 1999): Review on Genetics of Glaucoma	Symposium on Ophthalmogenetics. Erlangen, Germany
Keynote Speaker (Apr 1999): Strategies for positional mapping, cloning and mutation screening of an unknown inherited disease gene	Congress of Genetic Disorders & Disabilities, Iran
Invited Speaker (Apr 1999): Molecular Genetics Studies of Primary Glaucoma	Congress of Genetic Disorders & Disabilities, Iran
Invited Speaker (May 1999): Molecular Genetics of Pseudoexfoliation Syndrome. ARVO Special Interest Group meeting on “Genetics of Pseudoexfoliation Syndrome”	Fort Lauderdale; Florida
Invited Speaker (Feb. 1999): An International Symposium on "The Frontier of Human Genome Analysis: Newly Discovered Disease Genes"	Keio University, Tokyo, Japan
Invited Speaker (Jun. 1997): Molecular Genetics of Congenital Glaucoma	Yale Eye Center Grand Round; New Haven, CT
Visiting Professor (Aug. 1997): Molecular Genetics study of families with Pseudoexfoliation	Hacettepe University; Ankara, TURKEY
Invited Speaker (Sep 1997): Primary congenital glaucoma results from different mutations in the structural core of Cytochrome P4501B1 (CYP1B1). 2nd. International symposium on experimental and clinical ocular pharmacology and pharmaceutics. Munich, Germany	Ocular Pharmacology and Pharmaceutics
Invited Speaker (Oct. 1997): Molecular Genetics of Congenital Glaucoma. American Association of Ophthalmology (AAO) meeting	AAO Meeting; San Francisco, CA
Invited Speaker (Nov. 1997): Mutation Screening of Congenital Glaucoma (Glaucoma Think Tank Meeting)	Bermuda
Invited Speaker (Nov. 1996): Bucharest University Hospital	Bucharest, Romania
Visiting Professor (1995): Department of Ophthalmology, Ankara University, Turkey AND Department of Medical Biology & Genetics, Akdeniz Univ. Antalya, Turkey	Ankara & Antalya, Turkey
Invited Speaker (1993): Application of Molecular Genetics and DNA Diagnosis; The Cystic Fibrosis Model	St. Francis Hospital; Hartford, CT
Visiting Professor (1994): Department of Ophthalmology, University of Montreal, Canada	Montreal, Canada
Visiting Professor (1993): Department of Medical Biology & Genetics, Ankara University, Turkey	Ankara, Turkey
Invited Speaker (1992): Department of Obstetrics and Gynecology in the University of Athens	Athens, Greece
Invited Speaker (1992): Department of Pathology in Ninewells Hospital & Medical School, Dundee, UK	Dundee, UK
Invited Speaker (Dec. 1992): International Glaucoma Association	London, U.K.
Invited Speaker (Sep. 1991): Glaucoma Unit of King’s College Hospital	King's College Hospital, London, U.K.
Invited Course Instructor (Apr. 1991): International School of Medical Genetics	Trieste, Italy
Invited Speaker (May 1990): Lectured to Clinicians in Athens University; Attended an International Conference on Human Gene Mapping in Corfu, Greece	University of Athens, Greece
Invited Speaker (Aug. 1990): St. George’s Hospital, University of London	University of London
Invited Speaker (Sep. 1990): International Conference on Facioscapulohumeral Muscular Dystrophy	Munich, Germany
Invited Course Instructor (Apr. 1987): European School of Medical Genetics	Sestri Levante, Italy

Teaching and training of individual Undergraduate Students, Graduate Students, Ph.D. Candidates, Medical Residents, Visiting Scientists, Postdoctoral Ph.D. and M.D. Research Fellows on various aspects of Human and Molecular Genetics.Taught at the Bioinformatics Workshop organized by the Hong Kong Hospital Authority Commissioned Training Program: "Impact of Bioinformatics on Genome Research" and "Mapping of Disease Genes", April 2009Taught the "Principal of Population Genetics", "Statistical Genetics", "Human Pedigree and Linkage Analysis" to the Clinical Genetics’ Fellows within the Division of Human Genetics, Department of Pediatrics, UCHC.Taught “Advanced Human Genetics Course” to Students of the “Developmental Biology & Genetics Graduate" Program. Taught "Population Genetics and Multifactorial Inheritance" and contributed to the teaching of BMS-Human Genetics course to the UCHC Medical & Dental Students (1990-1992).Taught in the courses of the International School of Medical Genetics, Trieste, Italy, April 1991.Taught in the "Senior Registrar Courses" organized by the Institute of Medical Genetics, Cardiff, U.K., 1988.Taught in the courses of the European School of Medical Genetics, Sestri Levante, Italy, April 1987.Taught in the "Senior Registrar Courses" organized by the Institute of Medical Genetics, Cardiff, U.K., 1986.Participated in the training of the Clinical Genetics Research Fellows within the Institute of Medical Genetics, Cardiff, U.K.; 1983 to 1989.

Name & Description	Category	Role	Type	Scope	Start Year	End Year
NIH Special Emphasis Panel Review Group; ZHL1 CSR-C (M2)	Study Section	Ad hoc Member	External	National	2012
NIH Special Emphasis Panel Review Group; IRG/SRG: ZRG1 CVRS-F (50)R: Lymphatic Biology in Health and Disease (PAR07-420):	Study Section	Ad hoc Member	External	National	2010
NIH Special Emphasis Panel Review Group; ZRG1 CVS-P (50)	Study Section	Ad hoc Member	External	National	2009
UCHC-AAUP Faculty Organization	Community Service	Constitution Committee Member	UConn Health	University	2009	2010
Journal of Ocular Biology, Diseases and Informatics	Editorial Board	Member	External	International	2008
Ophthalmology and Eye Diseases	Editorial Board	Member	External	International	2008
Journal of Ophthalmic and Vision Research	Advisory Committee	Member	External	International	2008
Journal of Ophthalmology	Editorial Board	Member	External	International	2008
Canadian Journal of Ophthalmology (CJO)	Professional/Scientific Journal	International Advisory Board Member	External	International	2006
Human Molecular Genetics	Editorial Board	Member	External	International	2006
NIH Special Emphasis Panel Review Group; ZEY1 VSN 05	Study Section	Ad hoc Member	External	National	2006
The Glaucoma Foundation (TGF)	Professional/Scientific Organization	Ex-Scientific Advisory Board Member	External	International	2005
NIH Special Emphasis Panel Review Group; ZEY1 VSN 06	Study Section	Ad hoc Member	External	National	2005
Iranian Society of Ophthalmologists & Vision Scientists (ISOV)	Advisory Committee	Member	External	National	2004
NIH Special Emphasis Panel Review Group; ZRG1 SSS-R (10)	Study Section	Ad hoc Member	External	National	2001
NIH Special Emphasis Panel Review Group; ZEY1 VSN 01	Study Section	Ad hoc Member	External	National	2001
Ophthalmic Genetics	Editorial Board	Editorial Board	External	International	2000
The Glaucoma Foundation (TGF)	Professional/Scientific Organization	Regular Member of the Grant Review Committee	External	International	1999
NIH Vision A (VISA)	Study Section	Ad hoc Member	External	National	1998
Human Chromosome 2; The Genome Data Base (GDB)	Advisory Committee	Co-Editor	External	International	1996	2002
Connecticut Lions Vision Center	Advisory Committee	Planning and Scientific Overview Committee Member	UConn Health	State	1996	2011
Graduate Human Genetics	Advisory Committee	Member, Curriculum Vitae Committee	UConn Health	University	1993
The Association for Research in Vision and Ophthalmology (ARVO)	Professional/Scientific Organization	Member	External	International	1993
Health Center Research Advisory Committee (HCRAC)	Research Committee	Reviewed Grant Proposals	UConn Health	University	1992	1996
General Clinical Research Center (GCRC)	Advisory Committee	Scientific Member	UConn Health	University	1991	1993
International Glaucoma Association (IGA)	Professional/Scientific Organization	Member	External	International	1991
Graduate Faculty in Biomedical Sciences, Developmental Biology and Human Genetics	Research Committee	Member	UConn Health	University	1990
American Society of Human Genetics (ASHG)	Professional/Scientific Organization	Member	External	International	1989
Institute of Biology (London, U.K.), Member (M.I.Biol.)	Professional/Scientific Journal	Member	External	International	1981

Molecular Genetics Studies of GlaucomaGlaucoma is a group of blinding inherited ocular disorders that affects over 70 million people worldwide. The clinical manifestation of this condition extends from birth to 80 years of age. Over the last 2 decades, our laboratory has identified and published 8 genetic loci for this condition {i.e., GLC3A, GLC3B, GLC3C for Primary Congenital Glaucoma (PCG); GLC1B, GLC1D, GLC1E, GLC1G and GLC1H for Primary Open Angle Glaucoma (POAG)} and further cloned 4 Glaucoma-causing genes {i.e., CYP1B1 (Cytochrome P450 1B1) as the first "PCG" gene; Optineurin (For Optic Neuropathy Inducing protein; OPTN) as the first “Normal Tension" Adult-Onset POAG gene; also WDR36 (WD40 Repeat Protein) and GLC1D for “High Tension" Adult-Onset POAG}. Over the years, we utilized a series of in vivo and in vitro experiments to determine the functional significance of these genes in the etiology of glaucoma. We cloned the orthologue of OPTN gene in both mouse and Rhesus monkey and further studied its mRNA distribution and protein in various human, monkey and mouse ocular and non-ocular tissues and cell lines. Ocular profilling of OPTN with 5 of its interacting proteins of FOS, RAB8, MYO6, Huntingtin and mGluR1a showed specific pattern of expression & differential co-localization with each of these OPTN-IPs. Similar studies for other glaucoma-causing and/or their proven interacting-proteins are the subject of future investigations.Molecular Genetics Studies of Other Inherited ConditionsOur laboratory also mapped and cloned CHX10 and OTX2 genes for Microphthalmia; HOXD13 for Synpolydactyly (Syndactyly Type II) and; GDF5 for Multiple Synostosis Type II. Furthermore, our research team had been involved in molecular genetics studies of Pseudoexfoliation Syndrome, Closed Angle Glaucoma, Rieger's & Axenfeld Syndromes, Optic Atrophy (Juvenile Kjer Type), Leber Congenital Amaurosis, Strabismus, Inherited Lymphedemas (Milroy & Meige), Learning Disabilities (Dyslexia) and Mitral Valve Prolapse.Ongoing StudiesCurrently, we are utilizing the Next-Generation Exome & DNA Sequencing Technologies to identify new defective genes for various forms of Glaucoma, as well as a number of other above-mentioned clinical disorders. Our aim is to establish a firm correlation between the type of gene-mutation(s) and clinical progression of the disease phenotype. This in turn can be used as a translational research tool for accurate clinical management of the patient population worldwide, as well as development of new drug therapies and, much anticipated, Personalized Genomic Medicine.

Not accepting lab rotation students at this time.

Journal Articles

Book Chapters

Conference Papers

Editorials

Letters

Other

Reviews

Title or Abstract	Type	Sponsor/Event	Date/Year	Location
Genetic Screening of LOXL1 in Exfoliation Glaucoma	Talk	Association for Research in Vision and Ophthalmology (ARVO)	2008	Fort Lauderdale, Florida
Common Challenges in Glaucoma Genetics	Talk	The 7th Asia Pacific Society of Eye Genetics Symposium (APSEG)	2006	Hong Kong
Gene Identification and Protein Characterization of Glaucoma Causing Molecules (Keynote Presentation)	Talk	Ocular Cell & Molecular Biology Conference	2005	Sarasota, Florida
Identification of WDR36 as a Novel Gene for Adult-Onset Primary Open Angle Glaucoma (POAG) at the GLC1G Locus on 5q22.1	Talk	Association for Research in Vision and Ophthalmology (ARVO)	2005	Fort Lauderdale, Florida
Adult-Onset Primary Open Angle Glaucoma Results From Mutations in Optineurin	Talk	Association for Research in Vision and Ophthalmology (ARVO)	2002	Fort Lauderdale, Florida
Recent advances in the search for glaucoma genes	Talk	UK Glaucoma Society	2001	London, UK
Molecular Genetics Studies of Primary Glaucoma	Talk	The First Congress of Genetic Disorders and Disabilities in Iran	1999	Tehran Iran
Strategies for positional mapping, cloning and mutation screening of an unknown inherited disease gene	Talk	The First Congress of Genetic Disorders and Disabilities in Iran	1999	Tehran, Iran
Primary congenital glaucoma results from different mutations in the structural core of Cytochrome P4501B1 (CYP1B1)	Talk	International symposium on experimental and clinical ocular pharmacology and pharmaceutics	1997	Munich, Germany
The first locus for Adult-Onset Primary Open Angle Glaucoma (GLC1B) maps to the 2Cen-q13 Region	Talk	Association for Research in Vision and Ophthalmology (ARVO)	1997	Fort Lauderdale, Florida
Genetic linkage relationship of Juvenile and Adult-Onset Primary Open Angle Glaucoma (POAG) with DNA markers on 1q	Talk	Association for Research in Vision and Ophthalmology (ARVO)	1994	Sarasota, Florida