Dr. William Gahl, Dr. Carlos feirrera, Miss Shira Ziegler (National INstitute of health- Bethseda, maryland)

Dr. William Gahl is the current Clinical Director of the National Human Genome Research Institute and is the founder and director of the National Institutes of Health Undiagnosed Diseases Program (UDP). This program focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland.

In the August of 2013, a genetic team at the NIH started seeing GACI patients as part of their growing interest in the studying disorders of vascular calcification. This team includes Dr. William Gahl, Dr. Carlos Ferreira and Shira Ziegler. Natalie's first appointment with them was when she was 4 months old. Natalie continues to see the genetics team at the NIH in conjunction with follow up appointments at Children's Hospital of Philadelphia. Since March of 2015, the genetics team has evaluated a total of 9 GACI patients ranging from 4 months to 22 years of age.

The following explains what the NIH genetics team does from both the clinical and research sides:

"From the clinical standpoint, we have a team of geneticists, cardiologists, and endocrinologists that see our patients with GACI. The cardiologists provide input regarding the heart function and presence or absence of known cardiovascular complications of GACI such as high blood pressure or thickening of the walls of the heart. If there have been no recent imaging studies to evaluate the extent of vascular calcifications or the contractile function of the heart, you will be able to obtain those during your NIH visit. The endocrinology team provides expertise with respect to other potential complications seen in patients with GACI, such as rickets or calcifications around the joints. An eye doctor examines older patients, since some older children with GACI can have involvement in the vessels of the back of the eye. Finally, the genetics team acts as a hub, coordinating medical care during the visit, and is also able to provide information regarding the risk of recurrence or potential options available in the future pregnancies.

On the research side, we are exploring the underlying cause of GACI in cell culture and in mouse models. We grow cells from a small piece of skin donated from the patient and evaluate the cells' potential to calcify in a petri dish. We utilize these cells to delineate disease-relevant cellular and molecular pathways with the intention of finding new drug targets to prevent the calcification. We can use these same drugs in our mouse model that recapitulates the disease phenotype. Our aim is to be able to translate our scientific findings from lab bench to bedside.

We are happy to answer any questions regarding clinical management of GACI or our current research endeavors."

Dr. Gahl was interviewed in 2012 on the CBS television newsmagazine program 60 minutes. Click here for the link to his interview. 

If you are interested in contacting the NIH about this research opportunity, please contact hopeforgaci@gmail.com. We can provide you with the name, phone number, and email address of the contact physician at the NIH. This research is potentially available to GAXCI patients worldwide.