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Montefiore in the News

January 10, 2020

Melissa Wasserstein, MD

Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore talks about the need for newborn screening to help eliminate the long and often frustrating delays in a getting a proper diagnosis for rare conditions.

Dr. Wasserstein is involved in the ScreenPlus program, the largest newborn screening study currently being conducted in the United States that will offer parents in eight New York State hospitals the option of having their babies screened for an additional 13 disorders (in addition to the standard 50 diseases currently screened).

The thirteen diseases were chosen based on each one having a treatment and/or advanced clinical trial underway in which an early diagnosis would be beneficial. The thirteen diseases are:

  • Acid sphingomyelinase deficiency
  • Batten disease (CLN2)
  • Cerebrotendious xanthomatisis
  • Fabry disease
  • Gaucher disease
  • Lysosomal acid lipase deficiency
  • Metachromatic leukodystrophy
  • Mucopolysaccharidosis (MPS) II (Hunter syndrome)
  • MPS IIIB (Sanfilippo syndrome type B)
  • MPS IVA (Morquio syndrome, type A)
  • MPS VI (Maroteaux-Lamy syndrome)
  • MPS VII (Sly syndrome)
  • Niemann-Pick disease