Pinar T. Ozand

Abstract

died on March 5, 2013, of cancer nearly a month and a half before his 80th birthday, in Istanbul in his native Turkey, to which he had retired in 2006 (Figure 1). He continued to practice and recruit patients for research till his last days. He was a brilliant physician and rejuvenator in scientific research in the Middle East, most notably in Turkey and Saudi Arabia. He is acclaimed to be the founder of modern biochemistry and biochemical genetics in Turkey as well as honored as the ''father of genetics'' in Saudi Arabia. Dr Ozand's signature accomplishment was to discover neurometabolic diseases uncommon in North America and Europe, but relatively common in Saudi Arabia, and thereby expand the world's knowledge of their presentation, genetics, natural history, and possibilities for treatment that could arrest, reverse, and prevent their progression. The list of metabolic diseases covers virtually all those usually discussed in clinical textbooks of neurology and pediatrics and include slowly progressive encephalopathies, like the gangliosidoses, leukodystrophies, and mucopolysaccharidoses, but also small molecule diseases that present acutely, like the aminoacidurias, the organic acidurias, urea cycle disorders, and fatty acid oxidation disorders. 1-6 He had recent interest in complex disorders, such as autism and intellectual disability, neurodevelopmental disorders, and pure neurologic entities as well as medical genomics and cytogenetics. 7-13 Pinar served for 20 years at the King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia (Figure 2), most recently as the Chairman of the Department of Genetics in the Research Centre, but prior to that as Head of the Inborn Errors of Metabolism laboratory, and as a Consultant Pediatrician in the Department of Pediatrics. He turned life's sudden detours into opportunities. His academic career spanned 3 phases: researcher in clinical biochemistry, clinician and researcher in neurometabolic diseases and inborn errors of metabolism, and then as a research geneticist. His influence reaches across generations of colleagues, research assistants, laboratory technologists, and residents from all 3 phases.