Advances in sequencing and molecular technology now allow us to understand the genetic underpinnings of complex diseases such as neurological disorders.Genetic variations(or mutations) in the DNA sequence of single ge...Advances in sequencing and molecular technology now allow us to understand the genetic underpinnings of complex diseases such as neurological disorders.Genetic variations(or mutations) in the DNA sequence of single genes have been implicated in neurological diseases such as Huntington's disease and spinal muscular atrophy.As a result,the development of gene therapies for neurological diseases is now a feasible endeavor.展开更多
CHARGE syndrome is a rare, recently well recognized entity with non-random pattern of congenital anomalies. The syndrome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-ret...CHARGE syndrome is a rare, recently well recognized entity with non-random pattern of congenital anomalies. The syndrome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-retarded growth and development, G-genital hypoplasia/genitourinary anomalies and E-ear anomalies and/or hearing loss. All anomalies are not seen in every case and a varied spectrum of associations is seen in most of the cases. The exact incidence is not known. However, the reported prevalence is approximately 1:10,000 births. We report one such case.展开更多
基金funded by grants from the National Health and Medical Research Council of Australia (1185600to GSL)+1 种基金Retina Australia (to GSL)The Center for Eye Research Australia receives Operational Infrastructure Support from the Victorian Government。
文摘Advances in sequencing and molecular technology now allow us to understand the genetic underpinnings of complex diseases such as neurological disorders.Genetic variations(or mutations) in the DNA sequence of single genes have been implicated in neurological diseases such as Huntington's disease and spinal muscular atrophy.As a result,the development of gene therapies for neurological diseases is now a feasible endeavor.
文摘CHARGE syndrome is a rare, recently well recognized entity with non-random pattern of congenital anomalies. The syndrome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-retarded growth and development, G-genital hypoplasia/genitourinary anomalies and E-ear anomalies and/or hearing loss. All anomalies are not seen in every case and a varied spectrum of associations is seen in most of the cases. The exact incidence is not known. However, the reported prevalence is approximately 1:10,000 births. We report one such case.
