Angela Duker, MS,CGC
GeneticsPrimary Office
Other Offices
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Nemours Children's Health, Philadelphia Nemours Children's Health, Philadelphia 833 Chestnut St. E. Suite 300 - Specialty Care Philadelphia, PA 19107 Appointment: (800) 416-4441
Get to Know Me
Angie Duker, MS, LCGC, is a genetic counselor in our skeletal dysplasia program. She’s been a genetic counselor since 2003 and with Nemours since 2010, where she coordinates the skeletal dysplasia clinic. Angie has been involved in many research projects over the years, but now mainly focuses on primordial dwarfism. She’s board certified by the American Board of Genetic Counselors, and a graduate of the University of Wisconsin and the University of Michigan, where she earned her MS in Human Genetics. Angie is on the medical advisory boards of Little People of America, Potentials Foundation, and Walking with Giants Foundation. In her role with the skeletal dysplasia team, she loves working with great families from all over the world, helping them get the information they need to help their child reach their utmost potential.Why I Treat Children
I became enamored with genetics in 7th grade, after having an amazing science teacher. I also love working with kids. Once I discovered medical genetics, and pediatric genetics specifically, it seemed to be the perfect match for my interests. Though there are many different areas for a genetic counselor to work, I can’t imagine being anywhere but pediatrics … especially now that I am a parent myself. It is incredibly rewarding to help parents (and children themselves) understand more about genetic conditions in their family.What I'm Passionate About
I feel very lucky to have joined the skeletal dysplasia team in 2010. I work with an amazing team of collaborative multidisciplinary providers and fantastic families. I’m passionate about helping families with children with dwarfism wrap their heads around new diagnoses, and getting them set up for success in the future. Our team is involved with the Little People of America organization, and it’s great to be able to connect families to this group and the wider LP community in the world. Families consider us their dysplasia medical home, and being able to follow children over the years and watch them grow both physically and emotionally is very gratifying.How I Try to Make A Difference
Many families come to us (from all over the country and the world) after being unable to find experienced care locally. It is an amazing feeling to almost hear the deflation of anxiety over the phone as I answer whatever questions families have about a particular diagnosis. I’m often focused on helping families understand the importance of, and get the tools to follow through with, care plans and overall medical management for the care of their child. As parents, we want nothing but the best for our children — and I’m happy to be the person to help families get on the right path to feel reassured that they are doing all they can do.Insurance Accepted
- Aetna HMO
- Aetna PPO/POS/EPO
- Cigna/Great West HMO EPO POS
- Cigna/Great West PPO
- Fidelis Care NJ Medicaid HMO
- First Health/Affordable PPO
- Global Medical Managment DE/PA
- Insurance Administrators of America
- INTEGRA Administrative Group (ClaimsBridge)
- Multiplan PPO
- Plan Vista/NPPN PPO
- Preferred Healthcare PPO
- Private Health Care Systems (PHCS)
- Star Healthcare Network
- Three Rivers Provider Network
- Skeletal Dysplasia
Research Activities
Our team is involved in clinical research involving many different types of skeletal dysplasias. My biggest research focus now is on primordial dwarfism. Specifically, we coordinate an international Primordial Dwarfism Research Registry. Through that I have participated in myriad studies with the goal of formulating care plans to help identify and treat any contributing causes of illness or life-threatening situations. It seems like as soon as we figure something out, the door opens for something else to learn about … which is both the blessing and the curse of research! However, it’s one that I enjoy very much, and am happy to be a part of if it means making the lives better of the children and families I work with.
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Villegas, M. A., Okenfuss, E., Savarirayan, R., White, K., Hoover-Fong, J., Bober, M. B., & Legare, J. M. (2022). Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes. Neurosurgery Clinics of North America, 33(1), 7-15. doi:10.1016/j.nec.2021.09.002
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Duker, A. L., Kinderman, D., Jordan, C., Niiler, T., Baker-Smith, C. M., Thompson, L., & Bober, M. B. (2021). Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease. Orphanet Journal of Rare Diseases, 16(1). doi:10.1186/s13023-021-01852-y
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Duker, A. L., Niiler, T., Kinderman, D., Schouten, M., Poll-The, B. T., Braverman, N., & Bober, M. B. (2020). Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. American Journal of Medical Genetics, Part A, 182(3), 579-583. doi:10.1002/ajmg.a.61413
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Ferreira, C. R., Zein, W. M., Huryn, L. A., Merker, A., Berger, S. I., Wilson, W. G., & Bober, M. B. (2020). Defining the clinical phenotype of Saul-Wilson syndrome. Genetics in Medicine, 22(5), 857-866. doi:10.1038/s41436-019-0737-1
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Ferreira, C. R., Niiler, T., Duker, A. L., Jackson, A. P., & Bober, M. B. (2020). Growth in individuals with Saul-Wilson syndrome. American Journal of Medical Genetics, Part A, 182(9), 2110-2116. doi:10.1002/ajmg.a.61754
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Abousamra, O., Kandula, V., Duker, A. L., Rogers, K. J., Bober, M. B., & Mackenzie, W. G. (2019). Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. Journal of Pediatric Orthopaedics, 39(9), E680-E686. doi:10.1097/BPO.0000000000001014
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Jennings, S. E., Ditro, C. P., Bober, M. B., Mackenzie, W. G., Rogers, K. J., Conway, L., & Duker, A. L. (2019). Prevalence of mental health conditions and pain in adults with skeletal dysplasia. Quality of Life Research, 28(6), 1457-1464. doi:10.1007/s11136-019-02102-2
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LaCroix, A. J., Stabley, D., Sahraoui, R., Adam, M. P., Mehaffey, M., Kernan, K., & University of Washington Center for Mendelian Genomics. (2019). GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. American Journal of Human Genetics, 104(1), 35-44. doi:10.1016/j.ajhg.2018.11.005
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Tarnauskaite, Z., Bicknell, L. S., Marsh, J. A., Murray, J. E., Parry, D. A., Logan, C. V., & Reijns, M. A. M. (2019). Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Human Mutation, 40(8), 1063-1070. doi:10.1002/humu.23776
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Ferreira, C. R., Xia, Z.-J., Clement, A., Parry, D. A., Davids, M., Taylan, F., & Scottish Genome Partnership. (2018). A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics, 103(4), 553-567. doi:10.1016/j.ajhg.2018.09.003
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Farach, L. S., Little, M. E., Duker, A. L., Logan, C. V., Jackson, A., Hecht, J. T., & Bober, M. (2018). The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. American Journal of Medical Genetics, Part A, 176(2), 465-469. doi:10.1002/ajmg.a.38581
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Reynolds, J. J., Bicknell, L. S., Carroll, P., Higgs, M. R., Shaheen, R., Murray, J. E., & Stewart, G. S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nature Genetics, 49(4), 537-549. doi:10.1038/ng.3790
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Duker, A. L., Niiler, T., Eldridge, G., Brereton, N. H., Braverman, N. E., & Bober, M. B. (2017). Growth charts for individuals with rhizomelic chondrodysplasia punctata. American Journal of Medical Genetics, Part A, 173(1), 108-113. doi:10.1002/ajmg.a.37961
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Pode-Shakked, B., Barash, H., Ziv, L., Gripp, K. W., Flex, E., Barel, O., & Raas-Rothschild, A. (2017). Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. Clinical Genetics, 91(5), 725-738. doi:10.1111/cge.12914
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Duker, A. L., Niiler, T., & Bober, M. B. (2017). Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. American Journal of Medical Genetics, Part A, 173(11), 3067-3069. doi:10.1002/ajmg.a.38467
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Hurd, L. M., Thacker, M. M., Okenfuss, E., Duker, A. L., Lou, Y., Harty, M. P., & Bober, M. B. (2017). Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. American Journal of Medical Genetics, Part A, 173(12), 3205-3210. doi:10.1002/ajmg.a.38498
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Martin, C.-A., Murray, J. E., Carroll, P., Leitch, A., Mackenzie, K. J., Halachev, M., & The Deciphering Developmental Disorders Study. (2016). Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes and Development, 30(19), 2158-2172. doi:10.1101/gad.286351.116
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Bober, M. B., Duker, A. L., Carney, M., Ditro, C. P., Rogers, K., & Mackenzie, W. G. (2016). Metatropic dysplasia is associated with increased fracture risk. American Journal of Medical Genetics, Part A, 170(5), 1373-1376. doi:10.1002/ajmg.a.37576
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Duker, A. L., Eldridge, G., Braverman, N. E., & Bober, M. B. (2016). Congenital heart defects common in rhizomelic chondrodysplasia punctata. American Journal of Medical Genetics, Part A, 170(1), 270-272. doi:10.1002/ajmg.a.37404
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Olney, R. C., Prickett, T. C. R., Espiner, E. A., Mackenzie, W. G., Duker, A. L., Ditro, C., & Bober, M. B. (2015). C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Journal of Clinical Endocrinology and Metabolism, 100(2), E355-E359. doi:10.1210/jc.2014-2814
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