Fragile X Syndrome Case Study
Kaielin Gilliland
An Important First Look
Fragile X syndrome is genetic disorder that affects about a third of people. The disorder can cause mild to severe intellectual disability and is the most common genetic cause of autism spectrum disorder. Physical features include long and narrow face, large ears, and flexible fingers. The disorder usually affects more males than females. Hyperactivity and seizures are common also mainly in males.
Due to a new study led by scientists at The Scripps Research Institute, researchers are able to have a first look at the early stages of brain development in patients with fragile X syndrome. In order to comprehend the syndrome and take action for treatment, scientists need to know how the brain of a patient with fragile X syndrome develops. Literally, starting with the first week in the womb. The main problem with treating the …show more content…
She was able to defeat the main problem using her expertise with a technique called “induced pluripotent stem cells.” The technique is designed to take from almost any tissue in an adult and reprogram that tissue to become a different kind of tissue. Loring’s test subjects were samples from juveniles and adults that did in fact have the fragile X syndrome. She then induced the cells to become neurons in a lab dish. She and her colleagues evaluated the dishes and the findings were mind blown.
Jeanne Loring’s experiment revealed that multiple induced pluripotent stems cells with the fragile X syndrome showed major delay in neurodevelopment compared with non-fragile X syndrome stem cells. She believed that the reason for delay in neurodevelopment is due to delayed development in the formation of “neuronal synapses”. Neuronal synapses is the connection that neurons make between the regions of the brain to communicate messages. Jeanne is stating the cells are in the brain; however, they do not migrate or connect
An Important First Look
Fragile X syndrome is genetic disorder that affects about a third of people. The disorder can cause mild to severe intellectual disability and is the most common genetic cause of autism spectrum disorder. Physical features include long and narrow face, large ears, and flexible fingers. The disorder usually affects more males than females. Hyperactivity and seizures are common also mainly in males.
Due to a new study led by scientists at The Scripps Research Institute, researchers are able to have a first look at the early stages of brain development in patients with fragile X syndrome. In order to comprehend the syndrome and take action for treatment, scientists need to know how the brain of a patient with fragile X syndrome develops. Literally, starting with the first week in the womb. The main problem with treating the …show more content…
She was able to defeat the main problem using her expertise with a technique called “induced pluripotent stem cells.” The technique is designed to take from almost any tissue in an adult and reprogram that tissue to become a different kind of tissue. Loring’s test subjects were samples from juveniles and adults that did in fact have the fragile X syndrome. She then induced the cells to become neurons in a lab dish. She and her colleagues evaluated the dishes and the findings were mind blown.
Jeanne Loring’s experiment revealed that multiple induced pluripotent stems cells with the fragile X syndrome showed major delay in neurodevelopment compared with non-fragile X syndrome stem cells. She believed that the reason for delay in neurodevelopment is due to delayed development in the formation of “neuronal synapses”. Neuronal synapses is the connection that neurons make between the regions of the brain to communicate messages. Jeanne is stating the cells are in the brain; however, they do not migrate or connect