Research in Genetics and Metabolism at Phoenix Children’s pioneers new insights and therapies for children and adults with rare genetic disorders. This work leads to cutting-edge care and opens doors to innovative treatment options for our patients, often surpassing the current standard of care available elsewhere. 

At Phoenix Children’s, we collaborate with local, national and international partners. Through these strategic partnerships, we share data with leading institutions worldwide, advancing the most effective treatments and potential cures for our patients.

Inborn Errors of Metabolism Research

Our research program administers multiple clinical trials at any given time. We evaluate therapies and the natural history of lysosomal disorders and study additional metabolic disorders, such as phenylketonuria (PKU).

Skeletal Dysplasia Research

We collaborate with industry partners to advance understanding and introduce new therapies for bone growth disorders.

Additional Research

Other areas of genetics research include:

  • Identifying novel gene mutations and biomarkers of diseases
  • Characterizing clinical variability and outcomes of genetic disorders, including through our multidisciplinary clinics for 22q11.2 deletion syndrome, genetic skin diseases and connective tissue disorders
  • Evaluating new therapies

This comprehensive research effort underscores our commitment to advancing knowledge and improving outcomes in genetic and metabolic disorders.

Find a Research Study

Patients and families can use the Find a Research Study tool or speak with their child’s doctor to learn about enrollment in current and upcoming clinical research studies at Phoenix Children’s.

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