Alicia Turner, MSN, APRN, FNP-C
As a family nurse practitioner, I specialize in genetics and the care of patients across the lifespan at Texas Children's Hospital and Baylor College of Medicine.
Clinically, I see patients in the metabolic and skeletal dysplasia genetics clinics. Diseases I treat include but are not limited to: Lysosomal Storage Disorders (Mucopolysaccharidosis of all types, Gaucher Disease, Pompe Disease, Fabry Disease), Osteogenesis Imperfecta, osteopenia/osteoporosis (including those associated with muscular dystrophies), X-Linked Hypophosphatemia, and Hypophosphatasia.
I manage the infusion service for the Genetics department (TCH and Baylor) which includes enzyme replacement therapy (ERT) for lysosomal storage disorders, bisphosphonates and injectable therapies.
I am a sub-I on the Brittle Bone Disorders Consortium, which aims to improve the lives of those diagnosed with Osteogenesis Imperfecta. Current studies include a natural history study, a biomarker study, and a drug trial underway at this time.
I also dedicate time to the Undiagnosed Disease Network, which seeks to obtain answers for patients who have suffered with diseases for which we lack current diagnosis. Baylor seeks to obtain diagnosis through in-depth testing and advanced genetic methodologies.
- Osteogenesis Imperfecta
- Lysosomal Storage Disorders
- Mucopolysaccharidosis- Hurler Syndrome(MPS I), Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III), Morquio Syndrome (MPS IV), Maroteaux-Lamy Syndrome (MPS VI), Sly Syndrome (MPS VII).
- Gaucher Disease
- Fabry Disease
- Pompe Disease
- X-Linked Hypophosphatemia
Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran A, Turner A, Belmont JW; Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT "Recurrent mosaic MTOR c.5930C>T (p.Thr1977Ile) Variant Causing Megalencephaly, Asymmetric Polymicrogyria, and Cutaneous Pigmentary Mosaicism (P1.6-037)." Am J Hum Genet. 2019 March ; 179 (3): 475-479. Pubmed PMID: 30569621.
Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SCS. "Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta." 2019 November ; : Pubmed PMID: 31772349.
Chaya N. Murali, Brady Slater, Salma Musaad, David Cuthbertson, Dianne Nguyen, Alicia Turner, Mahshid Azamian, Laura Tosi, Frank Rauch, V. Reid Sutton, Brendan Lee, Members of the BBD Consortium, Sandesh C. S. Nagamani "Health‐related Quality of Life in Adults with Osteogenesis Imperfecta." Clinical Genetics. 2021 February 12; : Pubmed PMID: 33580568.
Recipient, 2018 Betsy Love McClung Grant for Research and Education - American Society for Bone and Mineral Research
* Texas Children's Hospital physicians' licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician's office and were not verified by Texas Children's Hospital.