Happy Blue Baby

Abstract

<p><a href="https://molecular-casenet.rcsb.org/node/5">Happy Blue Baby</a></p> <p><em>Overview</em>: This case explores the reasons for why an otherwise healthy infant turned blue, soon after birth. All tests done in the neonatal intensive care unit were unable to diagnose possible reasons for the cyanosis, so the infant was taken to a specialist. The case begins with reading a local newspaper report and an abstract of the scientific report describing how doctors were able to make a diagnosis. Molecular explorations in the case focus on understanding the structural basis of the cause, heredity, and long-term impact of the rare mutation identified in the infant.</p> <p><em>Learning Objectives</em>: The adaptation was developed for a lecture only large Introductory Biochemistry class as a second molecular case study on hemoglobin to practice exploration of chemical interactions that stabilize the structure and enable functions of biological molecules. using the PDB website to answer specific biochemical questions.  For this adaptation there is no expectation for the students to have any knowledge on pedigree charts as they relate to hereditary diseases, but just a basic understanding that genetic information is stored in the DNA and a single base change can result in the coding of a different amino acid within a protein.  The emphasis of this adaptation is the exploration of the interactions around the mutated amino acid and the resulting structural changes that  impact oxygen binding.  By the end of the case, students should be able to retrieve a specific protein structure from the PDB database and use the default 3D Viewer to explore molecular details of  different components of the structure and make figures that clearly communicate functionally important structural observations.</p> <p><em>Implementation</em>: The case can was implemented as guided group work performed in zoom breakout rooms with student active participation monitored through google jamboard.</p>