Ronald H. Laessig Memorial Newborn Screening Fellowship

The Association of Public Health Laboratories (APHL) is seeking a doctoral scientist for a laboratory research fellowship opportunity hosted by the Division of Consolidated Laboratory Services’ newborn screening (NBS) laboratory under the mentorship of the Virginia Newborn Screening Program leadership. The Ronald H. Laessig Memorial Newborn Screening Fellowship Program, sponsored by 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 two year program is a full-time working fellowship for doctoral scientists. The fellowship honors Ronald H. Laessig, 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.

During the first year, the fellow will learn about the newborn screening program, visit other state public health laboratories, attend conferences and trainings in new methods, and work on the following projects aimed at improving the laboratory process by researching the impact, benefits, limitations, resources needed, and the cost of implementation:

·      Cystic Fibrosis - The current second tier Cystic Fibrosis assay involves the Luminex xTAG 39 mutation panel, which detects the most common mutations, but lacks the desired comprehensiveness. The fellow will evaluate the Luminex 60 mutation CFTR panel as well as the Illumina MiSeq Cystic Fibrosis Clinical Sequencing Panel.

·      Hemoglobin – The current hemoglobin workflow utilizes isoelectric focusing (IEF) as a primary screen for all samples and confirmation by HPLC only for suspected abnormal results. The fellow will evaluate the impact of reversing the workflow to provide automated HPLC as a primary screening method to reduce the burden of reading many IEF gels.

·      Lysosomal Storage Disorders – The current LSD workflow includes enzyme level evaluation using the Baebies Seeker microfluidics platform, followed by second tier Sanger sequencing. The false positive rate from the first tier is significantly high, particularly during the summer months. The fellow will explore of the addition of glycosoaminoglycans to the first tier algorithm.

·      Galactosemia - The current workflow includes the GSP assay for total galactose and GALT enzyme activity, however the addition of DNA sequencing analysis for the common mutations associated with GALT deficiency could lower false positives. The fellow will explore implementation of DNA sequencing as a second tier test for the laboratory algorithm. 

·      Understanding of newborn screening phases and processes: pre-analytic (involving specimen collection, transport and accessioning), analytic (testing of specimens and interpretation of newborn screening results), and post-analytic (follow-up of abnormal results, confirmatory testing, medical intervention on affected newborns)

·      Competency with sample preparation, testing, interpreting results, reporting

·      Drafting a validation proposal, implementation and validation of the testing method, and implementation and validation of the method in the laboratory information management system (LIMS)

·      Develop quality assurance checks and maintenance procedures to monitor the performance of the method

·      Review QC for each assay and perform instrument maintenance and troubleshooting

·      Submit abstracts to the Newborn Screening and Genetic Testing Symposium and other relevant meetings

·      Participate in collaborations, webinars, and trainings both within and outside the Virginia  Laboratory; attending newborn screening-related meetings and/or conferences as opportunities arise. 

·      Applicants must be US citizens or permanent residents. Applicants to the program must have completed a doctoral degree in genetics, genomics, public health, molecular biology, population health, or related discipline by the program start date. The degree must have been awarded within the last five years.

·      Fellows receive a stipend, allowances for medical insurance and professional development, vacation leave, medical leave, and complimentary membership to APHL. The 2020 fellowship stipend is 65,000/year.

1.      Narrative describing your relevant experience and why you are applying for the fellowship

2.      Resume or CV

3.      Three letters of recommendation

4.      Official transcripts

5.      Proof of US citizenship