Welcome to the on-line home of the Chromosome 18 Clinical Research Center. We are glad you found us. We hope you take a few minutes to learn about the work we’re doing and how you can get involved.

Our Vision:

  • Every person with a chromosome 18 abnormality will have an autonomous and healthy life

Our Mission:

  • To provide individuals and families affected by chromosome 18 abnormalities with comprehensive medical and educational information with a focus on treatment options

Our Goals:

  • To be the international medical and educational resource for individuals with chromosome 18 abnormalities and their families
  • To perform and facilitate clinical and basic research relating to chromosome 18 abnormalities
  • To develop treatments and interventions that promote a healthy and productive life for people with chromosome 18 abnormalities

Chromosome 18 Clinical Evaluation Program

Over the course of the last twenty years, our team of clinicians has gained extensive experience with the assessment and evaluation of children and adults with chromosome 18 changes.

We are frequently asked whether our team of collaborators will see patients who are not eligible for one of the clinical studies.  Our investigators do see patients on a non-research basis and will be happy to see you in their individual clinics.  As a service to families who have completed the primary enrollment for the Chromosome 18 Clinical Research Center, we will help schedule these appointments so that they can take place within a relatively compressed number of days.  However, it is important to understand that the Chromosome 18 Clinical Research Center will not cover the cost of these visits.  As with other specialists that your child might see, you will need to check that your insurance will cover the costs.  This might require your child’s primary care provider to complete a referral to the provider in San Antonio.   When setting up these appointments, you will need to tell both the provider and the insurer that this will be a CLINICAL VISIT and not a “research visit”.   Your child’s physician in your hometown will receive a clinical summary from each appointment. 

Please keep in mind that, if you seek an appointment with a provider in San Antonio, the results of the evaluation will not automatically be made available to the Research Center.  If you would like the information of those visits to become part of the Research Center’s data base, then we will need your permission to obtain those records for every doctor seen.  This can easily be done by filling out a medical record release form as you see each of these providers.

Although you will be responsible for all costs associated with a visit to San Antonio, the staff at the Research Center may be able to provide you with some assistance.  If you are already enrolled in our Primary Research Study, we can:

    1. Review your child’s records and determining which specialists would be most appropriate,
    2. Coordinate the visit so that multiple specialists can be seen in a timely fashion
    3. Make suggestions about hotels and tourist attractions
    4. Provide directions and other instructions to get to the appointments.

Below is a list of our collaborators who are willing to see private patients in their clinics.

Otorhinolaryngology (Ear, Nose and Throat):
Brian Perry, MD
This appointment would include an ENT examination and possible ABR/audiology testing, as ordered by Dr. Perry.

Daniel E. Hale, MD
This appointment would include an endocrinology examination and appropriate endocrinology blood work, which may include growth hormone stimulation testing and  bone age X-rays.

Neuropsychology testing:
Louise O’Donnell, PhD
This exam would include neuropsychology testing appropriate for child’s age and could also include interviews of parents or guardians.

Pediatric Neurology:
Sidney W. Atkinson, MD
This appointment with consist of a very thorough neurology examination.
Allergy and Immunology
Edward Brooks, MD
This appointment would include a thorough evaluation of the history of exposures, and allergies.

Martha Schatz, MD
This appointment will include visual acuity testing as well as an evaluation of the eyes.

These providers could become your child’s treating specialists, if you so wish.  This differs from research-funded evaluations, in which our providers can only make treatment recommendations.
If you have any questions about this information, please call or email our Project Manager, Annice Hill, 210.567.5321,


Chromosome 18 Group Photo


Image of US Map

Spearheaded by Jannine D. Cody, PhD, Alex Foster, MD, MPH, Alexander Pertsemlidis, PhD, Andrew Meyer, MD, MS, PEDs are short presentations highlighting Pediatric Research. Posted on youTube, they tell the stories behind faculty research projects.


The Inspiration for the Chromosome 18 Research Center
Jannine D. Cody, PhD
Professor of Pediatrics
Division of Genetics and Metabolic Disorders
The Chromosome 18 Clinical Research Center

LINK: youTube May29, 2014


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