Dr Wendy Introne is a pediatrician, clinical and biochemical geneticist who performs clinical research on rare genetic conditions at the National Human Genome Research Institute at the National Institutes of Health in Bethesda, MD, USA.  She completed her paediatric residency training at the Children’s National Medical Center in Washington, D.C., and fellowship training in clinical and biochemical genetics at the National Institutes of Health. Her current position is as a Staff Clinician in the National Human Genome Research Institute at the National Institutes of Health, where she is an associate investigator conducting clinical research into rare diseases, including Alkaptonuria, Chediak-Higashi syndrome, and Smith-Magenis syndrome.

Dr Introne’s interest in Alkaptonuria began in 2000 when she initiated a protocol to elucidate and document the natural history of the condition. Through this protocol she has evaluated approximately 100 patients with Alkaptonuria. This natural history protocol lead to a treatment trial investigating the use of Nitisinone in patients with Alkaptonuria.

Dr Introne was a speaker at the 4th International Workshop on AKU, presenting on: Overview of the NIH Nitsinone Trial and Future Prospects