{"id":2,"date":"2017-03-31T11:50:42","date_gmt":"2017-03-31T15:50:42","guid":{"rendered":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/?page_id=2"},"modified":"2017-04-11T13:24:21","modified_gmt":"2017-04-11T17:24:21","slug":"home","status":"publish","type":"page","link":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/","title":{"rendered":"Home"},"content":{"rendered":"
\"Mansoor<\/div><\/div><\/div>

Dr. Mansoor Sarfarazi <\/strong>and the Molecular Ophthalmic Genetics Laboratory is studying the genetics of glaucoma. Specifically, research is being done on adult-onset primary open-angle glaucoma caused by mutations in\u00a0Optineurin<\/strong><\/em><\/span> and WDR36<\/strong><\/em><\/span> genes.<\/p>\n

Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPTN<\/strong><\/em> or Optineurin<\/strong><\/em> (for \"Opti<\/strong><\/span>c Neur<\/strong><\/span>opathy In<\/strong><\/span>ducing protein\"). Sequence alterations in OPTN<\/em> were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The OPTN<\/em> gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor-alpha signaling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, non-pigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role.<\/p>\n

We have also mapped three autosomal recessive loci for Primary Congenital Glaucoma (GLC3A<\/em>, GLC3B<\/em>, GLC3C<\/em>) and further identified the CYP1B1<\/strong><\/em><\/span> (Cytochrome P450 1B1) as the causing gene at the GLC3A<\/em> locus.<\/p>\n<\/div><\/div><\/div>

Contact<\/h2>\n

Mansoor Sarfarazi, Ph.D.<\/strong>
\nMolecular Ophthalmic Genetics Laboratory
\nUConn Health
\n263 Farmington Avenue
\nFarmington, CT 06030-1110<\/p>\n

Office: 860-679-3629
\nLab: 860-679-3923
\nFax: 860-679-7524
\nEmail: mansoor@uchc.edu<\/a><\/p>\n<\/div><\/div><\/div><\/div><\/div>

Publications<\/a><\/p>\n<\/div><\/div><\/div>

Online Resources<\/a><\/p>\n<\/div><\/div><\/div>

Safarazi Faculty Page<\/a><\/p>\n<\/div><\/div><\/div>

<\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"

Dr. Mansoor Sarfarazi and the Molecular Ophthalmic Genetics Laboratory is studying the genetics of glaucoma. Specifically, research is being done on adult-onset primary open-angle glaucoma caused by mutations in\u00a0Optineurin and WDR36 genes.Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal […]<\/p>\n","protected":false},"author":38,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"open","template":"page-blank.php","meta":{"_acf_changed":false,"footnotes":""},"acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-04-12 01:25:21","action":"change-status","newStatus":"draft","terms":[],"taxonomy":""},"_links":{"self":[{"href":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/wp-json\/wp\/v2\/pages\/2"}],"collection":[{"href":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/wp-json\/wp\/v2\/users\/38"}],"replies":[{"embeddable":true,"href":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/wp-json\/wp\/v2\/comments?post=2"}],"version-history":[{"count":7,"href":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/wp-json\/wp\/v2\/pages\/2\/revisions"}],"predecessor-version":[{"id":24,"href":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/wp-json\/wp\/v2\/pages\/2\/revisions\/24"}],"wp:attachment":[{"href":"https:\/\/health.uconn.edu\/molecular-ophthalmic-genetics-lab\/wp-json\/wp\/v2\/media?parent=2"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}