Medical Problem Solving, Case 1: A Genetic Link to Anemia

Overview & Concepts

After reading a case study about a child with a disease, students search OMIM, use the NSBI Map Viewer, and work with 10K Microarray data to identify a disease and find the gene that’s causing it.  SNPs and Microarrays are explained in the activity. Students then use BLAST and BLAT to compare sequence data.  Students have to think critically about stringency in the searches and how it impacts their results.

Grade Level: 

Concepts Covered: 

BLAT, BLAST, microarrays, single nucleotide polymorphisms

Prior Knowledge Required: 

DNA, genes, chromosomes, PCR, BLAST, OMIM

Activity Notes

Days to Teach: 

1-2 50-minute class periods.


Student handout, computers with Internet access, Excel file Microarray Data Med Prob Example, 
PPT file About The Clinic for Special Children, computer with projection capability

Teaching Tips / Activity Overview: 

  1. Introduce the activity by showing the Power Point about The Clinic for Special Children.
  2. Group students in small groups or pairs and let them work to complete the case study. 
  3. Actively monitor students’ progress and address any problems along the way.
  4. When everyone is finished, gather the groups together to reflect on the process and share any insights or questions.  Encourage students to discuss the impact that stringency had on their search results.


The final discussion is an excellent opportunity to gauge students’ understanding of the process and concepts.


More case studies and the Medical Problem Solving Webquest are also available.




Dr. Erik Puffenberger and Dr. Kevin Strauss at The Clinic for Special Children in Strasburg, PA provided the details for the case study.  Dr. Elizabeth Rice wrote the activity.  Dr. Jamie Blair and Tara Flick reviewed, revised, and edited it.

Academic Standards
Categories & Tags
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