Iowa Institute of Human Genetics

Exome Analysis for Rare Diseases Application

  • Please complete the following form
  • Make sure to include in your responses enough information so the significance of the application can be evaluated by someone not familiar with the disease
  • Relevant literature should be cited
  • Please include an explanation of why you believe there may be a genetic cause or predisposition to this phenotype
  • The completed form can be submitted electronically

Please draw the pedigree. The pedigree and any genetic test results must be sent to Mycah Kimble at iihg@uiowa.edu before the application will be reviewed. The pedigree must include the following: affected status, age of all family members, if individuals are living or deceased, residence of family members (city, state). Instructions for drawing the pedigree can be found at “How to Draw a Pedigree”. Incomplete pedigrees will not be reviewed.

The entire application including a pedigree must be completed for consideration. If you have any questions regarding the application please contact Mycah Kimble at iihg@uiowa.edu.

Clinician Information

First Name (must be principal investigator):  Last Name:  Middle Initial:

Clinician's Department Affiliation

Primary Department Affiliation: Additional Department Affiliation:

Clinician's Institutional Contact Information

Address:  Phone:  Email:  Pager:

Please answer the questions below:

Clinical description of the phenotype or disease in the patient.
  

Describe the proband and family and their respective phenotypes. Is the disease similar in each person?
 

Have any genetic tests been performed on this family?

      


 

Please provide your differential diagnosis in order of likelihood.
   

What is known about the genetics of this disease (inheritance, known genes)? Please provide a review and cite relevant literature.
   

What makes this family a good candidate for this project? This is a competitive program, why should we select your application over the other applications?
 

If a new disease-causing gene is identified in this family, how would this information advance your  field?
 

If your application is selected, can you draw blood for DNA based testing specifically looking at only genes implicated in this phenotype? Or, provide 10ug of DNA?

 

 


Please provide a pedigree using the following instructions:

The pedigree must include the following:

  • affected status
  • age of all family members
  • if individuals are living or deceased
  • residence of family members (city and state)

Note with an asterisk those individuals who are willing to participate in the study. Incomplete pedigrees will not be reviewed.

Pedigrees should be sent to Mycah Kimble at:

Mycah Kimble
285 Newton Road, 5296 CBRB
Iowa City, IA 52242

Alternatively, a .pdf of the pedigree may be emailed to Mycah Kimble at iihg@uiowa.edu