Dietrich Matern, MD, PhD., Clinical Biochemical Geneticist and Co-Director of Mayo Clinic’s Biochemical Genetics and Genomics Laboratory at the Mayo Clinic in Rochester, Minnesota was named the recipient of the 2022 Sue Rosenau Legacy Award.
The Sue Rosenau Legacy Award was created in honor of The Legacy of Angel’s Foundation’s co-founder, and rare disease advocate, Sue Rosenau. This award has been given in her memory since 2019 to keep her legacy alive within the foundation and community at large after losing her 3-year battle with ovarian and serous endometrial cancer in July of 2018. The award recognizes individuals whose work in the areas of Krabbe disease or Cystic Fibrosis creates memorable and lasting change. The 2022 award was presented to Dietrich Matern, MD, PhD., of the Mayo Clinic.
“This award means a lot to me and is particularly dear to my heart because it bears Sue’s name,” said Dr. Matern.
Dr. Matern is a recognized leader in the development and improvement of laboratory assays for the biochemical diagnosis and follow-up of patients with inborn errors of metabolism. Dr. Matern’s research has been funded by the NICHD, ACMG’s Newborn Screening Translational Research Network (NBSTRN), industry, and The Legacy of Angels Foundation (TLOAF). His focus, in recent years, has been on newborn screening for lysosomal disorders, including Krabbe disease.
The work of Dr. Matern and his colleagues in the Biochemical Genetics Laboratory has also significantly reduced the number of families that have to go through unnecessary worries and tests because the result of their baby’s screening test was a false positive.
To determine the best and most effective approach to screen for more than a dozen of disorders, including Krabbe disease, Dr. Matern and his lab had received funding from the NICHD. This funding was a time-limited contract and due to unforeseen barriers causing delays in the project, they were unable to complete the study before the contract expired. The team planned to do molecular testing at the end as a confirmatory test of screen positive samples from de-identified newborn screening blood spots. To fill the gaps caused by the time limited funding to finish the study, The Legacy of Angels Foundation was able to provide grant funding to successfully complete the study. Dr. Matern’s team had a paper about the study published after Sue Rosenau had passed and the publisher allowed them to dedicate it to her name.
“Sue received a good amount of care at Mayo Clinic in Rochester,” said Dr. Matern. “Therefore, I had the opportunity to see her during some of her stays and get to know her a little better. I was always impressed by her selflessness, concern for others, and her ability to look beyond her own interests, which makes this award even more special. For example, while she was clearly eager to see newborn screening for Krabbe disease to become universal, she appreciated that the initial screening tests created too much anxiety for families not affected by the disease, and therefore was willing to wait for improved screening procedures.”