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    Angela Duker, MS,CGC

    Genetics
    (800) 416-4441
    Researcher Profile

    Primary Office

    Nemours Children's Hospital, Delaware Nemours Children's Hospital, Delaware 1600 Rockland Road Wilmington, DE 19803
    Get Directions
    Appointment: (800) 416-4441

    Other Offices

    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 Better Health FL Medicaid and Healthy Kids
    • Aetna HMO
    • Aetna HMO/POS/PPO/EPO
    • Aetna PPO/POS/EPO
    • Blue Cross and Blue Shield HMO
    • Blue Cross and Blue Shield Non HMO
    • Blue Cross Blue Shield Florida Blue Select
    • Cigna/Great West HMO EPO POS
    • Cigna/Great West PPO
    • Community Care Plan Medicaid
    • Employers Health Network PPO
    • Evolutions Healthcare
    • Fidelis Care NJ Medicaid HMO
    • First Health Aetna PPO/EPO
    • 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)
    • Simply Healthcare Healthy Kids
    • Simply Healthcare Medicaid HMO
    • Star Healthcare Network
    • Three Rivers Provider Network
    • United Healthcare Commercial Products
    • United Healthcare Community Plan Medicaid

    • 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.

    • Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia; Nature Communications; (2024).

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    • Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia; JBMR Plus; (2023).

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    • Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III; Journal of Clinical Immunology; (2023).

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    • Identification of potential non-invasive biomarkers in diastrophic dysplasia; Bone; (2023).

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    • Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study; Anesthesia & Analgesia; (2023).

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    • Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia; Nature Communications; (2023).

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    • Collagen X Marker Levels are Decreased in Individuals with Achondroplasia; Calcified Tissue International; (2022).

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    • Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.; Orphanet journal of rare diseases; (2021).

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    • Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor; Palliative Medicine Reports; (2020).

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    • Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations; AACE Clinical Case Reports; (2020).

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    • Growth in individuals with Saul-Wilson syndrome.; American journal of medical genetics. Part A; (2020).

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    • Defining the clinical phenotype of Saul-Wilson syndrome.; Genetics in medicine : official journal of the American College of Medical Genetics; (2020).

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    • Rhizomelic chondrodysplasia punctata morbidity and mortality, an update; American Journal of Medical Genetics Part A; (2020).

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    • Prevalence of mental health conditions and pain in adults with skeletal dysplasia; Quality of Life Research; (2019).

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    • Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.; Journal of pediatric orthopedics; (2019).

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    • Biallelic variants in DNA2 cause microcephalic primordial dwarfism.; Human mutation; (2019).

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    • GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome; The American Journal of Human Genetics; (2019).

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    • A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation; The American Journal of Human Genetics; (2018).

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    • The expanding phenotype of <i>RNU4ATAC</i> pathogenic variants to Lowry Wood syndrome; American Journal of Medical Genetics Part A; (2018).

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    • Microcephaly, intractable seizures and developmental delay caused by biallelic variants in <i><scp>TBCD</scp></i>: further delineation of a new chaperone‐mediated tubulinopathy; Clinical Genetics; (2017).

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    • Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II; American Journal of Medical Genetics Part A; (2017).

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    • Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients; American Journal of Medical Genetics Part A; (2017).

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    • Metatropic dysplasia is associated with increased fracture risk.; American journal of medical genetics. Part A; (2016).

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    • Growth charts for individuals with rhizomelic chondrodysplasia punctata.; American journal of medical genetics. Part A; (2016).

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    • C-Type Natriuretic Peptide Plasma Levels Are Elevated in Subjects With Achondroplasia, Hypochondroplasia, and Thanatophoric Dysplasia; The Journal of Clinical Endocrinology &amp; Metabolism; (2015).

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    • Congenital heart defects common in rhizomelic chondrodysplasia punctata.; American journal of medical genetics. Part A; (2015).

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    • Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency; Human Mutation; (2014).

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    • Hip Pathology in Majewski Osteodysplastic Primordial Dwarfism Type II; Journal of Pediatric Orthopaedics; (2014).

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    • Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations; American Journal of Medical Genetics Part A; (2012).

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    • Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome; European Journal of Human Genetics; (2010).

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    • ‘The cost and yield of evaluations for developmental delay/mental retardation'; Developmental Medicine &amp; Child Neurology; (2008).

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    • English