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Literature Review Of Human Hdr Syndrome With Gata3 Haplo Insufficiency, Olivia Ambursley-Gries
Literature Review Of Human Hdr Syndrome With Gata3 Haplo Insufficiency, Olivia Ambursley-Gries
Honors Theses
This literature mining project is regarding mutations that cause hearing loss in patients with human hypo parathyroid, deafness, and renal dysplasia (HDR) syndrome caused by a mutation in the GATA3 gene. The disease is unique; not all diagnosed individuals present with all symptoms of the triad. Van Esh et al. found that the haploinsufficiency of the GATA3 is found on chromosome 10p14-p15 (ref.1). The focus of this work is to condense the literature on GATA3 haploinsufficiency correlating to human HDR syndrome. Due to the lack of global healthcare access, it can be assumed that many cases remain undiagnosed; 180 have …
Regenerative Rehabilitation And Genomics: Implications For Occupational Therapy, John V. Rider
Regenerative Rehabilitation And Genomics: Implications For Occupational Therapy, John V. Rider
The Open Journal of Occupational Therapy
The completion of the human genome project has paved the way for health care practitioners to use genetic and environmental information to tailor medical treatment. This innovative approach to health care is rapidly evolving, and occupational therapists need to be aware of the impact it will have on future practice. Regenerative rehabilitation is a product of knowledge and techniques from the fields of rehabilitation and regenerative medicine with the common goal to restore function. Occupational therapists have the potential to play a significant role in regenerative rehabilitation research and implementation. The purpose of this article is to (a) increase understanding …