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t m c ยป p u l s e | s e p t e m b e r 2 0 1 4 26 Baylor Joins NIH Undiagnosed Diseases Network clinicians and researchers at Baylor join forces with other top medical institutions to address hard-to-solve medical cases B y Z o e Q u e z a d a E ager to help patients and families who struggle for years without a diagnosis, the National Institutes for Health (NIH) has created the Undiagnosed Diseases Network to help provide patients with the answers they have been desperately searching for. As part of an interdisciplinary approach, the NIH has selected six clinical research institutions from across the country to work together, combining resources and expertise to advance medical knowledge for these rare diseases. Widely recognized for their advancements in genetics and genom- ics, Baylor College of Medicine has been selected to be a part of the be evaluated. Many of the patients who applied were admitted and put through rigorous research studies and testing for evaluation. Using their vast resources in genomics, the NIH provided specialized testing that, for many of these patients, was not readily accessible elsewhere. As more diagnoses continued to be made, the NIH was able to make several discoveries of new diseases, and in some cases, they were even able to determine better treatment strategies for the troublesome diseases. The program spurred a tremen- dous amount of new knowledge and the NIH recognized that if it wanted the program to expand, it needed to program and was awarded a $7.3 million dollar grant to support their clinical site. For the past six years the NIH has been developing the pilot program for the Undiagnosed Disease Network. The intramural program began at the NIH headquarters in Bethesda, Maryland, and took advantage of the clinical research resources available there. Since its inception, the program has evaluated people from all over the U.S. and has been successfully able to diagnose many of the participants. Soon after the pilot program started, the NIH received an over- whelming response from physician referrals and patients who wanted to collaborate with other top clinical research institutions. "The NIH really wanted to take advantage of the enormous national resources to try to make discoveries and diagnosis in patients who have rare and unusual diseases which has been problematic in the health care system," said Brendan Lee, M.D., Ph.D., the prin- cipal investigator for the Baylor exten- sion site of the Undiagnosed Disease Network, Interim Chair of Molecular and Human Genetics, and founder and director of the Skeletal Dysplasia Clinic at Texas Children's Hospital. "We (Baylor) have had a four decade history of leading in genetics and genomics in discovering new genes exactly aligned with the mission of this program." When the NIH announced its plans Baylor, and its hospital affiliate Texas Children's, were determined to join forces and become a part of the program. Recognizing that its location in the Texas Medical Center could be a huge strength, they made sure to put that forward in the application process. "We at Baylor have been very lucky," said Lee. "I think what distin- guished our application is a combina- tion of the history of discovery we've had in genetics and genomics, the support and collaboration with the other departments at Baylor, and more broadly, the other institutions of the Texas Medical Center. " "The Texas Medical Center has a wealth of expertise and I think there has been a long history of collabora- tion between institutions," said Lee. "Potentially being able to tap into expertise at the investigator level has been a well established tradition and certainly adds to our strengths, because when you put an application like this forward it must showcase what we do well. But when we are dealing with undiagnosed disease, having the potential to tap into the broad scien- tific and medical expertise locally is an enormous strength. Our ability to reach professor and interim chair of molecular and human Genetics, Brendan lee, m.D., ph.D., will lead a team of clinicians and researchers who will lend their resources and expertise to the undiagnosed Diseases network. (credit: Baylor college of medicine)