Medical Record Assessment Training


Class 1 (January 16, 2015)

Students were oriented to the class and underwent HIPAA certification.

BIOS 40450 Spring 2015 syllabus

HIPAA training website link

Class 2 (January 23, 2015): Family Presentations

Students presented on families with various rare diseases in order to get acquainted with rare disease research.

Class 3 (January 30, 2015): Yanjanin et al. research article (2010)

Students presented on each chart and table in the Yanjanin et al. paper in order to ensure a deep understanding of the research.

Student Presentations

Class 4 (February 6, 2015): Review of Yanjanin et al (2010)

All students scored the same NPC record in order to compare their scoring accuracy. Each student presented their scores, and all the scores were compared in class to find averages, standard deviation, and other useful statistics.

Scoring Template for Niemann Pick Type C

Class 5 (February 13, 2015): Rare Disease Day

Students attended Rare Disease Day where they heard lectures from various researchers about their work in rare diseases.

Class 6 (February 20, 2015):  Niemann Pick Type C record review and presentations

Students all presented on one case and conducted analysis of scores for Niemann Pick Type C patient.

  1. ST-Clincal Summary
  2. Accumulated scores from Case 1 (1)

During this class, students were also assigned diseases that needed an updated NORD summary. They were tasked with updating the summaries using GeneReview.

The following diseases were chosen to be updated on NORD: Diseases needing updated NORD summaries

Class 7 (February 27, 2015): 

Class 8 (March 6, 2015): Niemann Pick Type C cases given to students for review

Student Presentations

Class 9 (March 20, 2015):

Class 10 (March 27, 2015):

Class 11 (April 10, 2015):

Class 12 (April 17, 2015):

Class 13 (April 24, 2015):




Fall 2014 Bios 60565

  • Class requirements
  • Introduction to Rare Diseases
  • Niemann Pick Type C
  • HIPAA training for all students

Class 2 :September 5, 2014

Literature review and family presentations

Class 3: September 12, 2014

  • Yanjanin et al. presentations of research article

Class 4: September 19, 2014

  • Niemann Pick Type C case presentations

Class 5: September 26, 2014

  • Introduction to case summaries
  • Presentation of 3 case summaries NP-C patients
  • Continuation of NP-C case presentations

Class 6: October 3, 2014

  • Midterm Exam
  • Presentation on Michiana Health Information Network and use of ICD-9 codes Barb Calhoun MSN, RN, PNP

Class 7: October 10, 2014

  • Fall Rare Health Research Symposium presented by University of Notre Dame researchers



Fall 2013  (BIOS 60565 -Topics Rare Neglected Diseases) Class Resources:

WEEK 1 – August 30th
(Introduction to Marfan Syndrome and collecting Medical Records)

  • Articles for Marfan Syndrome
  1. Clinical consult_Marfan syndrome
  2. Marfan diagnosis and Management
  3. Marfan Nat History 2001
  4. Symptom and manifestation of Marfan syndrome
  1. Diagnosis and Tools, Professor Shahir Rizk – Ghent Nosology
  2. Background and Introduction, Bianca Fox “Esteem” – Marfan Family
  3. Background and Introduction, Bianca Fox “Esteem” – Marfan Syndrome
  • Record Collection Documents (in order of use), Jackie Picache
  1. Example of Outreach Email
  2. RHE Flyer for Marfan Syndrome
  3. Setting Up a Phone Interview
  4. RHE Consent Letter for Marfan Syndrome FINAL
  5. Instructions for First Phone Call
  6. Call Outline_NAME
  7. Call Summary Sent to Patient
  8. Detailed Call Summary_PATIENT NAME
  9. BIOS 60565_Collecting Medical Records EDIT_Presentation

WEEK 2 – September 6th
(Video Conference – NORD)

  • Writing Guidelines
  1. NORD Writing Guidelines (official version)
  2. NORD Writing Guidelines (student condensed version)
  • 8 Reports from NORDS Database
  • NORD disease summaries that need updating
  1. Coffin-Siris Syndrome_summary
  2. Hereditary Hemorrhagic Telangiectasia_summary
  3. Holt-Oram Syndrome_summary
  4. Hypohidrotoc Ectodermal Dysplasia_summary
  5. Mucolipidosis IV_summary
  6. Nonketotic Hyperglycinemia_summary
  7. SSADH Deficiency_summary

WEEK 3 – September 13th
(Marfan Disease diagnostic scoring based on Gray-Davies system/Class Presentations)

  1. Clinical Severity Grading Scale  By: Jonathon R Gray and Sarah J Davies
  2. Student presentation Guide lines

-Bianca Fox and Abraham Yu – Table 1

-Allison Kress and Jing Wang – Table 3

-Andrew McAsey and Jackie Picache – Table 2


WEEK 4 – September 20th
(Research of different types of registries and databases on the web/Class Presentations)

  • Database established by Dr. Heiko Runz (a member of the INPDA)
  1. NPC Clinical DataBase

Bianca Fox introduces RHE – RHE Review

Yun Gao introduces the database for RHE – ND Program and RHE Database


-Bianca Fox and Abraham Yu – Medical Databases

-Allison Kress and Jing Wang – Medical Databases

-Andrew McAsey and Jackie Picache – Medical Databases


WEEK 5 – September 27th
(Video Conference – CRND Partnership in Rare Diseases)

  1. Rare Disease program
  2. Conference Call Summary

WEEK 6 – October 4th
(No Class)

WEEK 7 – October 11th
(NORD Summaries/Class Presentations)

-Bianca Fox – Coffin-Siris Syndrome
-Andrew McAsey – Hereditary Hemorrhagic Telangiectasia
Jackie Picache – Holt-Oram Syndrome

WEEK 8 – October 18th
(NORD Summaries/Class Presentations)

Abraham Yu – Mucolipidosis IV
Jing Wang – Hypohidrotoc Ectodermal Dysplasia
Allison Kress – Nonketotic Hyperglycinemia

WEEK 9 – October 25th
(No Class – Fall Break)

WEEK 10 – November 1st
Students to present Marfan Disease diagnostic (1st) scoring of patient based on student updated scoring system: Regarding section of patient records assigned.

-Bianca Fox and Abraham Yu – Marfan record scoring

-Allison Kress and Jing Wang – Marfan record scoring

-Andrew McAsey and Jackie PicacheMarfan record scoring

WEEK 11 – November 8st

WEEK 12 – November 15th
(No Class)

WEEK 13 – November 22nd

As a group focus on refining the new scoring system for all the major domains.
“Revised-Student Scoring System” Marfan Scoring System

WEEK 14 – November 29th
(No Class – Thanksgiving Break)

WEEK 15 – December 6th
(Last Class)

Students to present Marfan Disease diagnostic (2nd) scoring of patient based on “Revised-Student Scoring System”: Regarding section of patient records assigned.

-Bianca Fox and Abraham Yu – Marfan record scoring

-Allison Kress and Jing Wang – Marfan record scoring

-Andrew McAsey and Jackie PicacheMarfan record scoring





Medical Record Assessment Training 2012 by Kasturi Haldar.

Edited by Pamela Tamez, Ph. D. Director, External Programs, Center for Rare and Neglected Diseases

Class 2012: BIOS 40450. Clinical Research: Developing Health Networks in Rare and Neglected Diseases.

Course Instructor: Kasturi Haldar, Ph. D. Director, Center for Rare and Neglected Diseases

Course Coordinator: Marisa Truong, Program Coordinator, Center for Rare and Neglected Diseases.

Core Goal: Train undergrads to become clinical experts in ONE rare disease, so they can

(i) assess patient medical records and suitably transform them for digitized storage and algorithmic analyses.

(ii) develop 1-3 page summary of the medical record (often hundreds of pages long) that can be helpful to the patient family during physician consults (that are usually short 30-45 min).

Brief Operational Summary and Context.

  1. Medical record assessment training is done as part of an academic course with credits and grades.
  2. Juniors and seniors who are pre-med or life sciences major are the target student groups.
  3. The class is built with mechanisms to bring in clinicians, representatives from patient services organizations, patients, and researchers in targeted disease areas.


The Catholic character of Notre Dame inspires students to learn about disease communities who suffer the most. A few students will have some level of knowledge of rare diseases, based on family experiences and research in rare diseases. Most register for the class because they have learned about neglected infectious diseases of poverty and are curious about the parallels with rare diseases.

The class is well structured. In the first six weeks, four of the six classes are based on student presentations. During each of the four classes, 8 students each present for 10 min. Each presentation is followed by ~10 min of discussion. This accounts for 160 of the available 180 min. The remaining time is taken up with time needed to transfer microphones between speakers etc and a brief discussion of the next week’s class. Students are assigned to work in groups for in-class presentations and must prepare through out-of class work (3-6 hours per week). To ensure that every student represents their group at least once in class, the number of groups is limited to 6-8, with 5-7 students per group. This accommodates 30-50 students. In Spring 2012, we have 48 students enrolled.

The major challenge is to enable internalization of material for which there is no direct pre-requisite in their prior curriculum. But students have a knowledge base in science that we build on. We utilize a strict attendance policy, group endeavor, tools on how to read clinical research papers, and structured and supervised formats for all student presentation. All aspects are described in the BIOS 40450 Spring 2012 Syllabus provided on the first day.


1.1. WEEK ONE. Students receive a general introduction to rare diseases. The introduction covers definitions, the hurdles to developing diagnoses and therapies to rare diseases, how the class can be instrumental to the cause of rare diseases, course organization (in absence of a text book or other formalized learning tools), course assessment (grades and how they will be assigned), and attendance policy. They are then introduced to one rare disease that will be used in instructional mode, and they learn the importance of handling protecting patient privacy.

Students are also given their first out-of- class assignment which is researching the web for stories of families of rare diseases for their first class presentation. Instructions are provided for how the presentation needs to be structured.

1.2. WEEK TWO. Eight students present eight family stories and discussion. At the end, the entire class has learned about eight family stories with the same rare disease, which gives them understanding of the diverse issues that face patients. A representative presentation is available at the following link: (Note: Material from these presentations are based on material publicly available on the web.)

HIPAA Training. In-class training ensures that students are trained to properly handle private clinical data and to protect patient privacy.

1.3. WEEK THREE. Students present the paper Yanjanin et al. 2010 and discuss symptomatic domains (without scoring them).

We discuss how to read a clinical research paper. This assigned paper describes the scale used to assess the patient medical record. Instruction on reading and presentation format are provided in detail in the syllabus and only briefly summarized here. All students have to read the paper, but each group has to take complete ownership of one data component, i.e. a Figure or a Table in the paper that they will present on. This means they have to comprehensively know and understand everything about that figure or table. This usually requires reading references cited for that particular Figure or Table. Then using a highly structured format the data are presented and discussed in the third week of class. In this way, we ensure that the entire class reads and understands the paper at a uniformly high level.

Presentation of symptomatic domains as described in one case.

Brief discussion of (i) application of scoring scale to records assigned for the next two weeks and (ii) presentations and structured formats that need to be used for the presentations.

1.4 WEEKS FOUR AND FIVE. Students present patient medical and medical summaries. Representative presentations are available at the following link: These are ‘training’ records, in that they have been assessed in prior classes (see Shin et al, 2011 PLoS One). Each record is assigned to two groups. Within a group, two subgroups undertake the longitudinal assessments. Thus four disease severity curves are generated for each patient medical record.

1.5 WEEK SIX. Presentation of inter-rater variability of individual student assessment of a single case just completed on Friday February 24. As is observed, the progression slope for all fifty is very similar. The absolute scores are within a range, but disease management is influenced by progression. The range in absolute scores arises largely due to variations in assessment of cognitive, memory and fine motor skills (essentially as noted in Yanjanin et al).

1.6 WEEKS SEVEN THROUGH TWELVE. Clinical Translational Seminar Series and presentation of new medical records that have not been previously assessed. These records are either directly submitted to us or come from large databases, other tertiary centers etc.

OUT OF CLASS (Per week, 3h; 6 hours on some weeks)

1.7 Student presentation preparation.

We find it very important to maintain uniformity in the format of class presentations so the class as a whole can learn from each group’s presentation in a stream lined way within the three hours of in-class time. Instructors assign students to groups, and students decide who will represent the group for each class presentation. That person also takes the leadership role to organize the group’s activities and sends a first draft of the presentation to the instructors for preview on the Wed (midnight) before each Friday presentation. Each draft is critiqued by instructors and returned to students for edits, essentially to correct digressions from the format, which as the class progresses and the students better appreciate its value, becomes streamlined.

Drafts with suggestions for edits returned to students by 5 pm Thursday.

Students return final presentations by 10 am Friday, so they can be uploaded in sequence for class at 1 pm.

1.8. For the Clinical Translational Seminar Series, students read papers assigned by the visitors and provide five questions based on this reading to the instructors by the Wed before the presentation. This allows them to be fully prepared for the external lecture.


The class is very popular. Even though we expanded from 30 to 50 students this year, we still had more applicants than we could enroll and placed 10 students on the waiting list. Pre-med and biology advisors bring it to the attention of students (for which we are grateful), and we do nothing else to advertise the class. Instructor’s permission is required for enrollment to ensure students meet registration criteria (upper-level pre-professional students or science majors). Seniors are given priority status, and about a third of the class are juniors.


We host a clinical translational seminar series to bring leading scientists and clinicians to engage students in the class. The speakers are experts in their field and bring first-hand accounts of the state of art in translational research. This provides students an opportunity to ask questions and engage directly with people shaping the field. Students have lunch with the visitor prior to the lecture and ask questions about the expert’s research after the lecture. In addition to supporting their course work, the visits also provide the students the opportunity to discuss different career options available to medical practitioners.

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