Diagnostic Pathology
Molecular Genetic Pathology
D. Yitzchak Goldstein, MD
Assistant Professor, Department of Pathology
The Molecular Genetic Pathology Laboratory at Montefiore, directed by D. Yitzchak Goldstein, MD is engaged in a wide variety of research endeavors, including the development of a high throughput screening methodology for Spinal Muscular Atrophy (SMA). SMA is an autosomal recessive neurodegenerative disease that occurs in children who have two deleted or mutated copies of the functional SMN1 gene.
Many conventional screening methods may leave diverse populations at increased risk since they simply assess gene copy number. Montefiore is developing additional advanced diagnostic assays to enhance screening sensitivity and to ensure providers are given all necessary information to advise their patients.
Additionally, the laboratory is investigating the nature of various T-cell receptor gene rearrangements to aid in the clinical prognostication and risk stratification of patients with Mycosis Fungoides.