Newborn Screening Fellowship

Maryland Department of Health is seeking a post-masters or post-doctoral scientist to assist with newborn screening (NBS) laboratory operations and research under the mentorship of the Newborn and Childhood Screening Division Chief. The Newborn Screening Fellowship Program, sponsored by the Association of Public Health Laboratories (APHL) and CDC, prepares laboratory scientists for careers in NBS and/or clinical genetics while also strengthening “local, state and federal public health infrastructures to support surveillance and implement prevention and control programs,” as stated in the CDC prevention strategy goal.  

This one-to-two year program is a full-time working fellowship for post-masters or post-doctoral scientists. Post-doctoral recipients of the fellowship are designated as Ronald H. Laessig fellows. The Ronald H. Laessig Fellowship honors the former director of the Wisconsin State Laboratory of Hygiene and national leader in NBS. Its mission is to provide a high quality training experience for the fellow while providing workforce capacity to the public health laboratory community.  

Project description:

1. The first project will be to implement newborn screening for X-linked adrenoleukodystrophy (X-ALD). X-ALD is a peroxisomal disorder caused by a deficiency of APT-binding cassette transporter protein (ALDP) encoded by the ABCD1 gene, which transports fat molecules called very long-chain fatty acid (VLCFA) into peroxisomes. In patients with X-ALD, VLCFAs accumulate and can lead to three main phenotypes, however individuals with X-ALD are typically asymptomatic at birth. The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) reviewed evidence demonstrating effective laboratory technologies available for X-ALD newborn screening, as well as the benefits of early identification and treatment on health outcomes. The Maryland Newborn Screening Program will work with the fellow to evaluate current X-ALD screening methods and implement the method that works best with the Maryland tandem mass spectrometry workflow.

2. The second project will be to add genetic testing to the newborn screening testing algorithm to strengthen the program’s ability to provide information to clinicians and eliminate patients that do not require further follow up. The Maryland program is already in the process of expanding the molecular section to incorporate 2nd-tier genetic testing for cystic fibrosis. The fellow will be involved in validating and implementing at least one new genetic testing method to identify infants with disorders such as classical galactosemia, congenital adrenal hyperplasia, or mucopolysaccharidosis type I (MPS I).