Klippel-Feil Syndrome: An Overview
According to the National Organization for Rare Disorders (2016), Klippel-Feil syndrome (KFS) is a rare disorder of the skeletal system characterized by cervical spine fusion of two or more vertebrae. The disorder was first documented in 1912 by two doctors Maurice Klippel and Andre Feil (NORD, 2016). Individuals with KFS often exhibit the hallmark features such as a short neck, low hairline, and limited neck mobility. Additional associated malformations may include scoliosis, hearing loss, disorders of the eyes as well as various problems occurring in the pulmonary, cardiac, and genitourinary systems to name a few. While KFS is a complex, multi-level disorder, the following will focus on the personal interest of the topic, principles of heredity, molecular, and genetic variations as well as bioethical issues regarding …show more content…
Bioethical issues Matters concerning bioethical issues in genetics is not one that is often unheard of in research today. Funding and continued research for KFS appear minimal as extensive research has uncovered little data since the gene identified as being responsible for the syndrome has been named. Nonetheless, gene therapy trials for rare diseases continue to be utilized for more common disease processes, and new trials are beginning to surface for other rare diseases as well (Resnik, 2012).
While gene therapy in humans has the potential to cure and prevent diseases, controversy remains. This includes risk associated with human gene therapy, which may include death; other ethical issues concerning altering human traits and discrimination exist as well (Resnik, 2012). From a personal perspective, one can merely hope for advancements, including prevention and / or treatment through gene therapy once a safe and ethically sound protocol exists.
According to the National Organization for Rare Disorders (2016), Klippel-Feil syndrome (KFS) is a rare disorder of the skeletal system characterized by cervical spine fusion of two or more vertebrae. The disorder was first documented in 1912 by two doctors Maurice Klippel and Andre Feil (NORD, 2016). Individuals with KFS often exhibit the hallmark features such as a short neck, low hairline, and limited neck mobility. Additional associated malformations may include scoliosis, hearing loss, disorders of the eyes as well as various problems occurring in the pulmonary, cardiac, and genitourinary systems to name a few. While KFS is a complex, multi-level disorder, the following will focus on the personal interest of the topic, principles of heredity, molecular, and genetic variations as well as bioethical issues regarding …show more content…
Bioethical issues Matters concerning bioethical issues in genetics is not one that is often unheard of in research today. Funding and continued research for KFS appear minimal as extensive research has uncovered little data since the gene identified as being responsible for the syndrome has been named. Nonetheless, gene therapy trials for rare diseases continue to be utilized for more common disease processes, and new trials are beginning to surface for other rare diseases as well (Resnik, 2012).
While gene therapy in humans has the potential to cure and prevent diseases, controversy remains. This includes risk associated with human gene therapy, which may include death; other ethical issues concerning altering human traits and discrimination exist as well (Resnik, 2012). From a personal perspective, one can merely hope for advancements, including prevention and / or treatment through gene therapy once a safe and ethically sound protocol exists.