Crnic Institute Supergroup 2013 Grant Recipient

Richard Spritz, M.D. – Autoimmune Disorders and Down Syndrome

Co-Investigators:
Dr. Ellen Elias
Dr. Shanlee Davis
Dr. Fran Hickey
Dr. Michael McDermott

Dr. Richard Spritz, M.D., Program Director of the University of Colorado School of Medicine’s Human Medical Genetics & Genomics Program, is a recipient of a 2013 Linda Crnic Institute Grand Challenge Grant.  The grant is underwriting Dr. Spritz’s research on autoimmune disorders in people with Down syndrome.

As highlighted by Anchor Kathy Walsh on CBS4, Dr. Spritz’s study requires saliva samples (from which DNA will be extracted) from at least 500 people with Down syndrome.  Once Dr. Spritz has the samples it is anticipated that conclusions may be available as soon as six months or one year from that date.

The issue

It is estimated that 30% to 50% of people with Down syndrome develop one or more autoimmune diseases, including autoimmune thyroid disease, celiac disease, vitiligo, type 1 diabetes and rheumatoid arthritis.

The research

The Spritz lab has studied autoimmune disorders in the mainstream population for many years. His lab discovered a gene on chromosome 21, called UBASH3A, that contributes to these diseases in the mainstream population. Down syndrome is a condition whereby people are born with three copies of chromosome 21 instead of two.

Dr. Spritz’s study will determine whether UBASH3A causes the very high risk of autoimmune diseases in people with Down syndrome. If it does, their findings may enable easy testing to identify the subgroup of people with Down syndrome at highest risk and who would benefit from intensive clinical surveillance and early treatment.

The need

In order to complete this study, 500 people with Down syndrome are needed to donate their DNA via a simple saliva sample.

How do I sign up?

Review the sign-up form and decide if this research is appropriate for you or your self-advocate with Down syndrome.  If you believe it is appropriate, please contact Paulene Holland at paulene.holland@ucdenver.edu or 303-724-3108. If you have specific questions, you may contact Paulene at 303-724-3108, who will provide you with any information required to participate as appropriate

Subject Form for clinical study by Dr. Richard Spritz

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