Molecular Pathology Case studies: 

Connecting the dots between genetics, molecular biology and biochemistry in real patients.

With recent advances in the integration of various disciplines of molecular science and technological developments in genetic analysis, it is now possible to implement truly “personalized” medicine. The growing adoption of “Precision Medicine” involves the full understanding of a patient, including their own specific molecular pathology and disease etiology, which can help to establish an accurate diagnosis and to select an effective therapy.

NCBI has long had online resources for biologists to explore what is known about a biological molecule including its structure and function and has recently developed clinically‐focused resources enabling scientists and clinicians to integrate known molecular biological information with clinically‐relevant genetic variations.

In Session 164:

• We will discuss the state of clinical practice with regard to the application of precision medicine principles.
• I will guide you through an exploration of a real‐world case study with a specific workflow to discover the patients’ molecular pathology for an undiagnosed/misdiagnosed problem.
• A practice case will be available for you to work on.

Click to see the session's formal learning goals

1. 1. Recognize molecular biology and genetic factors that are relevant to underlying disease processes
   2. Apply on-line information databases toward explanation of molecular biology and genetics of disease processes
   3. Discuss the dysfunctional molecular biology and genetics associated with a diagnosed disease
   4. Apply principles of basic sciences to clinical scenarios

How should I prepare for this session? Do a quick review of the last 2½ weeks of materials....A good understanding of genetics, molecular biology & biochemistry. The session materials will become available an hour before the session - you do not need to do any pre-work! Bring your WiFi-enabled laptop or iPad with an up-to-date web browser to view the session materials and follow along with the patient case work-up. Come to class with your thinking cap on!

In Session 167:

• We will work, together, through a cluster of similar-sounding patient cases and discover the underlying cause of pathology in each of these real patients.
• By looking at the patient's diverse molecular mechanisms, we will explore how knowing the pathology of a patient's genetic disorder could be useful for precision diagnosis, explain the clinical presentation, and may be helpful in customizing the case management plan.

Click to see the session's formal learning goals

1. 1. Apply principles of basic sciences to studying clinical scenarios.
   2. Identify any additional information required and where/how to get it.
   3. Present details pertinent to their specific case and discover /discuss important factors in related cases down to the molecular level.
   4. Recognize significant details in patients case relevant to underlying disease processes.

How should I prepare for this session? Review the workflow from Session 164's case study work-up. Independently or with a group, try out the practice case so that you feel comfortable with the workflow and how to integrate what you've found in a narrative for your patient's case. Be prepared to actively participate in exploring a new group of patient cases! If there is interest, we can quickly go over the Practice Cases before we move on to the Session's Group Case. Note: Links to all answers will be added to the bottom of each case page by the end of Friday.

Wednesday's course materials are available.
Friday's will "go live" just before you need them.