{"id":25182,"date":"2020-08-19T16:09:22","date_gmt":"2020-08-19T20:09:22","guid":{"rendered":"https:\/\/www.med.unc.edu\/pediatrics\/?page_id=25182"},"modified":"2022-11-10T17:15:30","modified_gmt":"2022-11-10T22:15:30","slug":"gene","status":"publish","type":"page","link":"https:\/\/www.med.unc.edu\/pediatrics\/gene\/","title":{"rendered":"Genetics &amp; Metabolism"},"content":{"rendered":"<p><img loading=\"lazy\" decoding=\"async\" class=\"alignleft wp-image-26613\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/02\/9B7A2572-scaled.jpg\" alt=\"Dr. Pandya in Clinic\" width=\"345\" height=\"230\" srcset=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/02\/9B7A2572-scaled.jpg 2560w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/02\/9B7A2572-300x200.jpg 300w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/02\/9B7A2572-1024x683.jpg 1024w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/02\/9B7A2572-768x512.jpg 768w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/02\/9B7A2572-1536x1024.jpg 1536w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/02\/9B7A2572-2048x1365.jpg 2048w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/02\/9B7A2572-600x400.jpg 600w\" sizes=\"auto, (max-width: 345px) 100vw, 345px\" \/><\/p>\n<p>Pediatric Genetics and Metabolism offers diagnosis, management, and genetic counseling for children and adults with disorders known or suspected to be inherited from a family member, resulting from a change in a person\u2019s genetic code. Such disorders include birth defects, chromosomal abnormalities, unexplained mental retardation and inborn errors of metabolism. Our providers play a vital role with the State of North Carolina\u2019s Newborn Screening Program, frequently identifying and treating disorders in newborn from across the state before the effects of a genetic disorder are irreversible. Our faculty are intentionally known for cutting-edge research and new treatments developed from clinical trials spanning decades.<\/p>\n<script>\n\n    (function($) {\n        $(\"body, html\").addClass(\"heels_full_width_overflow\");\n    })(jQuery);\n\n   <\/script>\n   <div style=\"background-color:#dbedfe;\" class=\"full-width-contained whitebackground home-icons\">\n<div class=\"flex-container\">\n\n<div class=\"\tflex-item\t\">\n\t \n<a href=\"https:\/\/findadoc.unchealthcare.org\/\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-27649\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/04\/icon-find-a-doc.png\" alt=\"find a doc.\" width=\"40\" height=\"40\" \/><\/a><\/p>\n<p style=\"text-align: center\"><a href=\"https:\/\/findadoc.unchealthcare.org\/\">Find a Doc<\/a><\/p>\n\n<\/div>\n\n\n<div class=\"\tflex-item\t\">\n\t \n<a href=\"https:\/\/myuncchart.org\/myChart\/Authentication\/Login?\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-27650\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/04\/icon-my-chart.png\" alt=\"my chart.\" width=\"40\" height=\"40\" \/><\/a><\/p>\n<p style=\"text-align: center\"><a href=\"https:\/\/myuncchart.org\/myChart\/Authentication\/Login?\">My UNC Chart<\/a><\/p>\n\n<\/div>\n\n\n<div class=\"\tflex-item\t\">\n\t \n<a href=\"https:\/\/www.med.unc.edu\/pediatrics\/about-us\/contact-us\/\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-27652\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/04\/icon-contact.png\" alt=\"contact us.\" width=\"40\" height=\"40\" \/><\/a><\/p>\n<p style=\"text-align: center\"><a href=\"https:\/\/www.med.unc.edu\/pediatrics\/about-us\/contact-us\/\">Contact Us<\/a><\/p>\n\n<\/div>\n\n\n<div class=\"\tflex-item\t\">\n\t \n<a href=\"https:\/\/give.unc.edu\/hfdonate?p=PROM\" target=\"_blank\" rel=\"noopener noreferrer\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-27651\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2021\/04\/icon-gift.png\" alt=\"make a gift.\" width=\"40\" height=\"40\" \/><\/a><\/p>\n<p style=\"text-align: center\"><a href=\"https:\/\/give.unc.edu\/hfdonate?p=PROM\" target=\"_blank\" rel=\"noopener noreferrer\">Make a Gift<\/a><\/p>\n\n<\/div>\n<\/div>\n<\/div>\n<h3>The Mission of the Division of Genetics and Metabolism is to:<\/h3>\n<ul>\n<li>Provide state of the art care and support to children and adults with genetic and inherited metabolic disorders<\/li>\n<li>Develop and implement innovative diagnostic tests and treatments for genetic and inherited metabolic disorders through cutting-edge research<\/li>\n<li>Educate students, clinicians, patients and their families as well as the wider community about genetics and genomics<\/li>\n<\/ul>\n<h2 class=\"elegant\">GENETICS &amp; METABOLISM NEWS<\/h2>\n<p style=\"text-align: center\"><a href=\"https:\/\/www.med.unc.edu\/pediatrics\/category\/GENE\/\">View all News<\/a><\/p>\n<p style=\"text-align: center\">\n<ul class=\"media alt-media\">\n        \n                            <li class=\"media-listitem\">\n                                            <a class=\"pull-left\" href=\"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/2026\/03\/cbs-17-highlights-dr-kim-stephens-family-journey-and-dr-joseph-muenzers-hunter-syndrome-research-at-unc\/\">\n                            <div class=\"thumbnail\">\n                                <img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2026\/03\/FIMG_GENE_Muenzer-news-2026-150x150.png\" class=\"attachment-post_thumbnail size-post_thumbnail wp-post-image\" alt=\"Dr. Muenzer sits on a chair holding Cole Stephens, dressed in a blue hat, blue shirt, and shorts who is holding a toy. Cole\u2019s mom, Kim, stands beside them, extending a hand in a clinical room.\" srcset=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2026\/03\/FIMG_GENE_Muenzer-news-2026-150x150.png 150w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2026\/03\/FIMG_GENE_Muenzer-news-2026-300x300.png 300w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\">                            <\/div>\n                        <\/a>\n                                        <div class=\"media-body\">\n                        <div class=\"caption\">\n                            <h4 class=\"media-heading\" data-shouldbe=\"h4\">                                <a href=\"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/2026\/03\/cbs-17-highlights-dr-kim-stephens-family-journey-and-dr-joseph-muenzers-hunter-syndrome-research-at-unc\/\" rel=\"bookmark\" title=\"Local news Highlights Stephens\u2019 Family Journey and Muenzer\u2019s Hunter Syndrome Research\">\n                                    Local news Highlights Stephens\u2019 Family Journey and Muenzer\u2019s Hunter Syndrome Research<\/a>\n                                <\/h4>                            <p>A recent story from CBS 17 highlights the journey of Dr. Kim Stephens and her family\u2019s experience living with Hunter syndrome (MPS II). The article also features ongoing research efforts at the UNC School of Medicine focused on developing new treatment approaches for rare genetic disorders.<\/p>\n                        <\/div>\n                    <\/div>\n                <\/li>\n                                \n                            <li class=\"media-listitem\">\n                                            <a class=\"pull-left\" href=\"https:\/\/news.unchealthcare.org\/2026\/01\/renowned-unc-pediatric-biochemical-geneticist-leads-first-study-on-a-novel-treatment-for-hunter-syndrome\/\">\n                            <div class=\"thumbnail\">\n                                <img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2026\/01\/FIMG_GENE_Muenzer-Joe-150x150.png\" class=\"attachment-post_thumbnail size-post_thumbnail wp-post-image\" alt=\"Joseph Muenzer, MD, PhD\" srcset=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2026\/01\/FIMG_GENE_Muenzer-Joe-150x150.png 150w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2026\/01\/FIMG_GENE_Muenzer-Joe-300x300.png 300w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\">                            <\/div>\n                        <\/a>\n                                        <div class=\"media-body\">\n                        <div class=\"caption\">\n                            <h4 class=\"media-heading\" data-shouldbe=\"h4\">                                <a href=\"https:\/\/news.unchealthcare.org\/2026\/01\/renowned-unc-pediatric-biochemical-geneticist-leads-first-study-on-a-novel-treatment-for-hunter-syndrome\/\" rel=\"bookmark\" title=\"Renowned UNC Pediatric Biochemical Geneticist Leads First Study on a Novel Treatment for Hunter Syndrome\">\n                                    Renowned UNC Pediatric Biochemical Geneticist Leads First Study on a Novel Treatment for Hunter Syndrome<\/a>\n                                <\/h4>                            <p>Joseph Muenzer, MD, PhD, leads research on groundbreaking therapy that offers hope for patients across the world living with a devastating genetic disorder. Ongoing clinical research at UNC could lead to a first-of-its-kind enzyme replacement therapy for Hunter syndrome, an ultra-rare disorder that causes progressive multisystem disease and neurologic decline.<\/p>\n                        <\/div>\n                    <\/div>\n                <\/li>\n                                \n                            <li class=\"media-listitem\">\n                                            <a class=\"pull-left\" href=\"https:\/\/news.unchealthcare.org\/2025\/12\/finding-confidence-and-opportunity-within-uncs-center-for-molecular-medicine\/\">\n                            <div class=\"thumbnail\">\n                                <img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2024\/02\/FIMG_GTC_Young-Sam-150x150.png\" class=\"attachment-post_thumbnail size-post_thumbnail wp-post-image\" alt=\"Samuel M. Young, Jr., PhD\" srcset=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2024\/02\/FIMG_GTC_Young-Sam-150x150.png 150w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2024\/02\/FIMG_GTC_Young-Sam-300x300.png 300w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\">                            <\/div>\n                        <\/a>\n                                        <div class=\"media-body\">\n                        <div class=\"caption\">\n                            <h4 class=\"media-heading\" data-shouldbe=\"h4\">                                <a href=\"https:\/\/news.unchealthcare.org\/2025\/12\/finding-confidence-and-opportunity-within-uncs-center-for-molecular-medicine\/\" rel=\"bookmark\" title=\"Finding Confidence and Opportunity within UNC\u2019s Center for Molecular Medicine\">\n                                    Finding Confidence and Opportunity within UNC\u2019s Center for Molecular Medicine<\/a>\n                                <\/h4>                            <p>The Center for Molecular Medicine (CMM), formerly the UNC Gene Therapy Center, launched a new effort to give potential Einsteins a foot in the door. The newly revamped Center, located in the Thurston Bowles Building, is buzzing with undergraduates and high school students looking to get a head start on their scientific careers.<\/p>\n                        <\/div>\n                    <\/div>\n                <\/li>\n                                \n                            <li class=\"media-listitem\">\n                                            <a class=\"pull-left\" href=\"https:\/\/www.med.unc.edu\/pediatrics\/2025\/12\/mary-clay-federspiel\/\">\n                            <div class=\"thumbnail\">\n                                <img loading=\"lazy\" decoding=\"async\" width=\"150\" height=\"150\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2025\/12\/FIMG_GENE_Federspiel-Mary-Clay-150x150.png\" class=\"attachment-post_thumbnail size-post_thumbnail wp-post-image\" alt=\"Mary Clay Federspiel, MSN, CPNP-PC\" srcset=\"https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2025\/12\/FIMG_GENE_Federspiel-Mary-Clay-150x150.png 150w, https:\/\/www.med.unc.edu\/pediatrics\/wp-content\/uploads\/sites\/1115\/2025\/12\/FIMG_GENE_Federspiel-Mary-Clay-300x300.png 300w\" sizes=\"auto, (max-width: 150px) 100vw, 150px\">                            <\/div>\n                        <\/a>\n                                        <div class=\"media-body\">\n                        <div class=\"caption\">\n                            <h4 class=\"media-heading\" data-shouldbe=\"h4\">                                <a href=\"https:\/\/www.med.unc.edu\/pediatrics\/2025\/12\/mary-clay-federspiel\/\" rel=\"bookmark\" title=\"Welcome New Clinical Provider: Mary Clay Federspiel, MSN, CPNP-PC\">\n                                    Welcome New Clinical Provider: Mary Clay Federspiel, MSN, CPNP-PC<\/a>\n                                <\/h4>                            <p>Mary Clay Federspiel, MSN, CPNP-PC, joined the Muenzer MPS center in the Pediatric division of Genetics &amp; Metabolism as an Advanced Practice Practitioner on December 15, 2025. Ms. Federspiel completed a Bachelor of Science at William &amp; Mary in 2006 and a BSN at the University of North Carolina at Chapel Hill in 2008. She earned her Master of Science in Nursing from the University of North Carolina at Chapel Hill in May of 2012. Most recently, she has been working with the Child Neurology team. In her new role, Ms. Federspiel will be working with Drs. Jalazo and Muenzer on clinical trials developing new therapies for patients with Angelman syndrome and mucopolysaccharidoses as well as other metabolic\/genetic disorders. Welcome!<\/p>\n                        <\/div>\n                    <\/div>\n                <\/li>\n                                <\/ul>\n    \n<p style=\"text-align: left\">\n\n<div class=\"\textra-space\t\">\n\t \n\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Pediatric Genetics and Metabolism offers diagnosis, management, and genetic counseling for children and adults with disorders known or suspected to be inherited from a family member, resulting from a change in a person\u2019s genetic code. Such disorders include birth defects, chromosomal abnormalities, unexplained mental retardation and inborn errors of metabolism. Our providers play a vital &hellip; <a href=\"https:\/\/www.med.unc.edu\/pediatrics\/2025\/12\/mary-clay-federspiel\/\" aria-label=\"Read more about Welcome New Clinical Provider: Mary Clay Federspiel, MSN, CPNP-PC\">Read more<\/a><\/p>\n","protected":false},"author":3424,"featured_media":0,"parent":0,"menu_order":36,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"layout":"","cellInformation":"","apiCallInformation":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-25182","page","type-page","status-publish","hentry","odd"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetics &amp; Metabolism | Department of Pediatrics<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.med.unc.edu\/pediatrics\/gene\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetics &amp; Metabolism | Department of Pediatrics\" \/>\n<meta property=\"og:description\" content=\"Pediatric Genetics and Metabolism offers diagnosis, management, and genetic counseling for children and adults with disorders known or suspected to be inherited from a family member, resulting from a change in a person\u2019s genetic code. Such disorders include birth defects, chromosomal abnormalities, unexplained mental retardation and inborn errors of metabolism. 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