Hereditary Genetics: Current Research

Maria New I

Maria New I
Professor of Genetics and Genomic Sciences, Department of Pediatrics, Mount Sinai School of Medicine
New York, USA

Biography

A member of the National Academy of Sciences and Professor of Pediatrics at the Mount Sinai School of Medicine, New York, Dr. New is one of the worlds leading pediatric endocrinologists. She has conducted pioneering research in the area of congenital adrenal hyperplasia (CAH), a family of monogenic autosomal recessive disorders of steroidogenesis in which enzymatic defects result in impaired synthesis of cortisol by the adrenal cortex.

Research Interest

The primary research emphasis is on genetic steroid disorders. We continue to study two monogenic disorders: 21-hydroxylase deficiency and-hydroxylase deficiency, emphasizing genotype/phenotype correlation and prenatal diagnosis and treatment.