In Case You Missed It—Bench to Bedside Research for Rare Autoinflammatory Diseases

On February 20, 2020, Dr. Goldbach-Mansky presented at the NIAID Postbac Research Seminar Series – an opportunity for NIAID postbacs to engage with principal investigators (PIs). Dr. Goldbach-Mansky directs the Translational Autoinflammatory Disease Section (TADS) of the Laboratory of Clinical Immunology and Microbiology (LCIM). Katelin Honer, a postbac in TADS, reflects on the seminar and discussion as well as her role on Dr. Goldbach-Mansky’s team.





Kaitlin Honer and Dr. Goldback-Manskey

Kaitlin Honer, postbac (left) with her mentor and principal investigator, Dr. Raphaela Goldbach-Mansky (right)

Credit
NIAID

Kaitlin Honer, postbac (left) with her mentor and principal investigator, Dr. Raphaela Goldbach-Mansky (right)

Credit:
NIAID

Briefly explain the research that Dr. Goldbach-Mansky presented during her seminar and any key findings you specifically found interesting. 

TADS studies rare, genetically defined, autoinflammatory diseases characterized by innate immune dysregulation. Both the laboratory and clinical sections collaborate with many departments in the NIH Clinical Center to create a complete understanding of their patients. Through these collaborations, they aim to define the genetic and molecular mechanisms behind autoinflammatory diseases and to implement the most effective treatment. This has led to novel findings, such as the difference in response of two interferon-mediated diseases to the same medication. One disease, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), shows complete remission while the other, STING-associated vasculopathy with onset in infancy (SAVI), has incomplete effectiveness. They are currently investigating the effectiveness of using two medications in conjunction to treat SAVI. 

What was your key takeaway from Dr. Goldbach-Mansky’s discussion?  

Dr. Goldbach-Mansky outlined the importance of using genetics and genomics to create a personalized patient treatment plan. These techniques serve as the intermediary between bench to bedside research. As an aspiring physician, I found the advice to seek out translational research opportunities extremely valuable. Of the many avenues we may venture down as future healthcare professionals (whether it be research or medicine), it is crucial to remember that all roads lead back to the common goal of health maintenance and effective care.

As a postbac in TADS, describe how your own project contributes to the lab’s mission.

As a postbac in TADS, I coordinate with patients, conduct patient surveys, analyze data to investigate proper diagnoses, and am currently creating a systematic review of our patient cohort (462 patients as of April 2020). I am directly involved with both patient care and bench research. Through surveys, I collect data on disease activity and quality of life. At the bench, I run and analyze patient interferon scores to assess the status of disease-associated flares. This clinical and research data is used, in conjunction with their medical records, to create a visit plan for the Clinical Center and a long-term treatment plan.

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