- Callie Betman is a Registered Dietitian with the Johns Hopkins Department of Genetic Medicine where she provides medical nutrition therapy to pediatric and adult patients with inborn errors of metabolism. She holds a Bachelor’s Degree from James Madison University with a major in dietetics and a Masters Degree in dietetics from Louisiana Tech University. She is also a national board certified specialist in nutrition support.
Jennifer Cedeno, M.S.
- Jennifer Cedeno has been a Genetic Assistant at Johns Hopkins University for over 10 years. Jen was the first Genetic Counselor Assistant at Johns Hopkins and paved the way for the additional GCA positions over the last few years. The first part of her career was spent in the DNA Diagnostic Laboratory, the University’s clinical genetic testing lab. After 10 years in this position, Jen transitioned into a clinical role within the Institute of Genetic Medicine where she works with eight genetic counselors and twelve medical geneticists. Jen has an undergraduate double major in Biology and Marine Science with a minor in Chemistry from University of Miami, and a Master’s degree in Environmental Science and Policy from Johns Hopkins University.
Catherine Kashmer, PA
- Catherine Kashmer is a physician assistant supporting the Department of Genetic Medicine at Johns Hopkins.
Celide Koerner, M.S., R.N.
- Celide Barnes Koerner is a senior research nurse and program coordinator with the Johns Hopkins Department of Genetic Medicine, with over 35 years of clinical experience treating children and adults with inborn errors of metabolism. She holds a master’s degree in nutrition from Tufts University, which was combined with a clinical internship at the Frances Stern Nutrition Center. She later completed her Bachelor of Science degree in nursing from The Johns Hopkins University. Her area of special interest is maternal phenylketonuria.
- Martino T, Koerner C, Yenokyan G, Hoover-Fong J, Hamosh A. Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy.
Kira Lurman, R.N.
- Kira Lurman is a clinical and research nurse in the Greenberg Center for Skeletal Dysplasia. Read more about Kira.
Angela Pipitone, R.D, L.D.N., C.N.S.C.
- Angela Pipitone Dempsey is a registered dietitian with the Johns Hopkins Department of Genetic Medicine, specializing in medical nutrition therapy for inborn errors of metabolism. She holds a bachelor’s degree from the University of Delaware with a major in dietetics and a minor in psychology. She went on to complete her dietetic internship with a clinical focus at Johns Hopkins Bayview Medical Center in Baltimore, Maryland. She is board certified in nutrition support, an active member of Genetic Metabolic Dietitians International and serves as a medical advisor for Homocystinuria Network America.
- Kim AY, Hughes JJ, Pipitone Dempsey A, et al. Pitfalls in the Diagnosis of Hereditary Fructose Intolerance.
- Pipitone A, Ayoubieh H, Kim AY, Gunay-Aygun M. Rapid infant weight gain linked to compounded L-arginine for citrullinemia type 1.
- Pipitone A, Raval D, Duis, J, Vernon H, Martin R, Hamosh A, Valle D, and Gunay-Aygun M. The management of pregnancy and delivery in 3-Hydroxy-3-Methylglutaryl-CoA Lyase deficiency.
Carolyn Applegate, M.G.C., C.G.C.
- Carolyn Applegate is the Genetic Counselor Manager at the McKusick-Nathans Institute and Department of Genetic Medicine at Johns Hopkins. Carolyn has over ten years of clinical experience providing genetic counseling in general genetics clinics as well as specialty clinics including Epigenetics and Chromatin disorders, disorders of telomere shortening, hematologic malignancies, and retinal disorders. She also provides consent and return of results to individuals and families enrolled in the Center for Mendelian Genomics, a research project aimed to discover the genetic basis to Mendelian traits and conditions. In addition to providing clinical supervision to students within the medical field, she created and continues to teach students in the first Genetic Assistant online certificate program. Carolyn has also championed enactment of law to license genetic counselors in the state of Maryland. She is a diplomate of the American Board of Genetic Counseling, on the Board of Directors of the National Society of Genetic Counselors, and a founding member of the Maryland DC Society of Genetic Counselors.
- Fiallos K, Applegate C, Mathews DJH, Bollinger J, Bergner AL, James CA. Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.
- Berrios C, James CA, Raraigh K, Bollinger J, Murray B, Tichnell C, Applegate CD, Bergner AL. Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.
- Alder JK, Hanumanthu VS, Strong MA, DeZern AE, et al. Diagnostic utility of telomere length testing in a hospital-based setting.
Jacquelyn Britton, M.G.C., C.G.C.
- Jacquelyn Britton is a certified genetic counselor at Johns Hopkins University. She is the primary genetic counselor for the Epigenetics & Chromatin clinic, which evaluates and cares for patients with Mendelian disorders of the epigenetic machinery (such as Kabuki syndrome, Sotos syndrome, and others), as well patients with “classical” epigenetic disorders (such as Beckwith-Wiedemann syndrome, Prader-Willi syndrome, and others). Jackie has worked with many patients and families with these syndromes, providing information and support regarding genetic testing and results, features of the condition, and recurrence risks and reproductive testing options. She enjoys seeing patients come back to clinic over the years and hopes to help families continually adapt to new and changing circumstances. Jackie also is the primary genetic counselor for a busy Genetics inpatient service, participating in evaluations for hospitalized patients in Neonatal ICU, Pediatric ICU, and other pediatric and adult units. She obtained a Bachelor of Science in Biology with concentration in Cellular and Molecular Biology from Loyola College in Maryland, followed by a Master’s in Genetic Counseling from University of Maryland School of Medicine in 2009. Prior to returning to Baltimore in 2014, Jackie provided genetic counseling to diverse patient populations in pediatric, prenatal, and cancer clinic settings in Pennsylvania and Louisiana.
- Peroutka C, Salas J, Britton JF, Bishop J, Kratz L, Gilmore MM, Fahrner JA, Golden WC, Wang T. Severe neonatal manifestations of infantile liver failure syndrome type 1 caused by cytosolic leucine-tRNA synthetase deficiency.
- Lee-Barber J, English TE, Britton JF, Sobreira N, Goldstein J, Valle D, Bjornsson HT. Apparent Acetaminophen toxicity in a patient with transaldolase deficiency.
- Bishop J, Britton JF, Murphy A, Sule S, Mithcell S, Takemoto C, Collaco J, Karnsakul W, Cuffari C, Dietz E, Bodurtha J. Juvenile idiopathic arthritis associated with combined JP-HHT syndrome: A novel phenotype associated with a novel variant in SMAD4.
Kelsey Guthrie, M.G.C., C.G.C.
- Kelsey Guthrie is a certified genetic counselor who works in the Department of Genetic Medicine at Johns Hopkins. She provides genetic counseling to pediatric and adult patients and their families in the Metabolic Genetics Clinic and the General Genetics Clinic. She has expertise in metabolic disorders, general genetics, and Hereditary Hemorrhagic Telangiectasia. She graduated from University of Maryland Baltimore genetic counseling program in May 2017 and went to the University of Maryland for her undergraduate degree, majoring in secondary education and biology. Her interests include education of students of all levels and general education and outreach to the community, and she is a member of multiple professional organizations.
- Latif MA, Sobreira NLD, Guthrie KS, Motaghi M, Robinson GM, Shafaat O, Gong AJ, Weiss CR. Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.
Gretchen MacCarrick, M.S., C.G.C.
- Gretchen MacCarrick is a board-certified genetic counselor in the Department of Genetic Medicine at Johns Hopkins. She has worked in the Cardiovascular Connective Tissue Clinic since 2001, with activities surrounding both patient care and clinical research initiatives. She is co-founder of the Loeys-Dietz Syndrome Foundation and a member of the Professional Advisory Board for the Marfan Foundation.
- MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. Loeys-Dietz syndrome: a primer for diagnosis and management.
- Morales A, Allain DC, Arscott P, James E, MacCarrick G, et al. At the Heart of Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.
- Demo E, Rigelsky C, Rideout A, Graf M, Pariani M, Regalado E, MacCarrick G. Genetics and Precision Medicine: Heritable Thoracic Disease.
Weiyi Mu, Sc.M., C.G.C.
- Weiyi Mu is a certified genetic counselor at the Department of Genetic Medicine at Johns Hopkins. She received her Master of Science in Genetic Counseling from the Johns Hopkins Bloomberg School of Public Health and is certified by the American Board of Genetic Counseling. She has a special interest in pediatric and adult neurogenetic populations, specializing in dementias and movement disorders, including Parkinson disease, Huntington disease, and hereditary ataxias. She provides to patients and their families genetics education, interpretation of genetic test results, and counseling to facilitate decision-making and adaptation to a chronic condition. In addition to her clinical work, she is also involved in gene-finding research studies, patient outcomes and psychosocial genetic counseling research, and provides clinical instruction to undergraduate interns, genetic counseling students, medical students, medical residents.
- Forsyth R, Mu W, Gibson L, Serwint JR, Shilkofski N, Bodurtha J. A structured genetics rotation for pediatric residents: an important educational opportunity.
- Mu W, Schiess N, Orthmann-Murphy JL, El-Hattab AW. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
- Mu W, Tochen L, Bertsch C, Singer HS, Barañano KW. Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.
Amy Patterson, M.S., C.G.C.
- Amy Patterson is a genetic counselor in the Department of Genetic Medicine at Johns Hopkins. She provides genetic counseling to pediatric and adult patients in the Kathryn and Alan C. Greenberg Center for Skeletal Dysplasias, as well as in Pediatrics and Adult Genetics Clinic. She received her master’s degree in genetic counseling and a public health certificate from Boston University, and a Bachelor of Science in neuroscience from Bucknell University. Amy was a LEND Fellow at Boston Children’s Hospital, through which she participated in interdisciplinary training focused on neurodevelopmental and related disabilities. Amy has been an advocate for people with rare diseases through the National Organization for Rare Disorders’ Rare Action Network of Massachusetts and worked to bring together a community of people with rare diseases and their families on policy issues.
Krista Schatz, M.S., C.G.C.
- Krista Schatz is a board certified genetic counselor at the McKusick-Nathans Institute and Department of Genetic Medicine at Johns Hopkins. She provides genetic counseling in a variety of clinical settings including pediatric and adult general genetics, lysosomal storage disorders, mitochondrial disease, epilepsy, and hearing loss. She is also the primary genetic counselor in the Johns Hopkins Comprehensive Neurofibromatosis Center (JHCNC). Prior to coming to Johns Hopkins, she worked for three years as a preconception and prenatal genetic counselor at a maternal fetal medicine practice in Maryland. She received her Master of Science degree in Genetic Counseling from Case Western Reserve University in 2012.
- Stolerman ES, Francisco E, Stallworth JL, Jones JR, et al. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
- Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, Gibbs RA. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
- Chowdhury F, Wang L, Al-Raqad M, Amor DJ, et al. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Christy Smith, Sc.M., C.G.C.
- Christy Smith is a board certified genetic counselor at the Johns Hopkins Department of Genetic Medicine since 2016. She sees pediatric and adult patients, with a special interest in those with inherited forms of neuromuscular disease, retinal disorders, and pediatric cancers. Prior to coming to Johns Hopkins, she worked at Greater Baltimore Medical Center (GBMC) seeing patients with Ehlers-Danlos syndrome and also adults for cancer risk assessment. She received her Masters of Science degree in Genetic Counseling from the Johns Hopkins/National Human Genome Research Institute (NHGRI) genetic counseling program in 2011. In addition to her clinical work, she is an active member of the National Society of Genetic Counselors, the Maryland DC Society of Genetic Counselors, as well as a diplomate and member of the American Board of Genetic Counseling. She also teaches and supervises genetic counseling students, fellows, residents, medical students, and undergraduate students in the field of genetic counseling.
- Knoll J, Li A, Smith CH, Schratz KE, Cooper SL, Meah T, Helmke E, Pratilas CA, Bodurtha J. Improving Detection of Cancer Predisposition Syndromes in Pediatric Oncology.
- Schwartz MLB, Klein WMP, Erby LAH, Smith C, Roter DL. The impact of the number of tests presented and a provider recommendation on decisions about genetic testing for cancer risk.
- Mu W, Muriello M, Clemens J, You W, Smith C, Tran P, Rowe P, Francomano J, Kline AD, C, Bodurtha. Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.
Karen Raraigh, M.G.C., C.G.C.
- Karen Raraigh is a certified genetic counselor in the Department of Genetic Medicine at Johns Hopkins, where she researches cystic fibrosis (CF) and related conditions. Her primary areas of focus are on curation of the Clinical and Functional TRanslation of CFTR (CFTR2) dataset and project, genotype-phenotype correlation for CFTR variants, communication of genetic information, and engagement of genetic counselors within the CF community. Karen is the founder of the CF Genetics Education Service, which provides members of the CF provider, patient, and research communities access to educational information about and variant interpretation of specific CFTR variants. She has been funded by the US CF Foundation to investigate the role of genetic counselors in the CF clinic and on the CF care team. Karen is both the current and a former chair of the Genetic Counselors’ Consortium within Johns Hopkins and led the CF Special Interest Group within the National Society of Genetic Counselors from 2014-2016. Prior to her work at Johns Hopkins, Karen spent two years working in general pediatrics at Nationwide Children’s Hospital in Columbus, OH and a year conducting a research project within an adult cystic fibrosis population in Dublin, Ireland under the auspices of a US Department of State Fulbright grant. She received her Master’s in Genetic Counseling from the University of Maryland School of Medicine in 2008.
- Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR. Functional assays are essential for the interpretation of missense variants associated with variable expressivity.
- Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
- Langfelder-Schwind E, Raraigh KS, Parad R. Practice variation of genetic counselor engagement in cystic fibrosis newborn screen-positive diagnostic resolution.
Sumathi Rachamadugu, M.Sc., M.S., C.G.C.
- Sumathi Rachamadugu is the genetic counselor for the DNA Diagnostic Lab at Johns Hopkins Genomics. She earned a master's degree in biomedical genetics from Vellore Institute of Technology in India, followed by a master's degree in genetic counseling from the University of Utah. She has worked as a cytogenetic technologist in India, and has several years of work experience as a clinical genetic counselor in the general genetics and adult cardiovascular clinics. Before joining Johns Hopkins Genomics, Sumathi worked at Intermountain Healthcare where she was team lead for the adult cardiovascular genetic counseling program, and served on various committees influencing genetic counseling, including a population study return of results committee. Sumathi is passionate about genetics education for non-genetics medical providers, learning the art and science of variant classification, and implementing technology to automate and scale the genetic counseling workflow. She is board-certified by the American Board of Genetic Counseling, and is an active member of the National Society of Genetic Counselors.
Management & Staff
- Felicia Easley, Senior Medical Office Coordinator
- Colleen Gioffreda, Senior Program Coordinator
- Dana Goins, Clinic Manager
- Brooklyn Khoury, MBA, Department Administrator
- Dora Knight, Sr. Medical Office Coordinator
- Jessica Weddle, Medical Office Coordinator