Informative Essay On Rett Syndrome

After working with and staying affiliated with CELAH throughout my undergraduate and graduate career, it is not the size of the impact that makes a difference in someone’s life. Rather, it is more about the continued influence, big or small, you can make in someone’s life, medically or personally. The patient interaction with the man who remembered me reaffirmed my desire to become a physician, and it made me think about what kind of leader I wanted to become. The entire experience with the Latino clinic taught me how to accommodate the patient’s needs in order to make them more comfortable to be around me. It also taught me what working with an underserved population is like and how to be a part of the change to serve an underserved

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene found on the X chromosome; it have been thought that RTT was exclusively found in females, but a limited number of males with RTT have been reported (Renieri et al, 2003). Unlike females, who have two X chromosomes, males only have one X-chromosome. Because males lack a "backup" copy of the X chromosome that can compensate for a faulty one, RTT is often fatal to males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is

All that I have been able to accomplish is a product of my father being afford more time. My hope is that through medicine I can prolong someone else’s life and they will be able to impact other’s lives the way my father impacted

In the majority of Rett Syndrome cases, it is caused by a mutation in a single gene. In 1999, it was discovered that mutation within the Methylcytosine-binding protein 2 is what eventually lead to Rett Syndrome. This gene makes a protein that is extremely necessary for the brain to function. However, the mutation is insufficient on developing this gene, or it damages the protein to the point where it may not be used. Either way, there is not enough working protein for the child to cooperate.

MECP2 is a chromatin-associated protein which binds to DNA that is methylated at CpG sites and can activate as well as repress transcription. MECP2 is mapped on the X chromosome at Xq28 and is subject to X chromosome inactivation (XCI), thus the condition is lethal in males and if the foetuses reach full term they normally do not survive after birth. According to Matijevic et al. 2009, the rare cases of males with mutations in the MECP2 gene is mostly associated with different types of mosaicism or even some moderate forms of mutations (Matijevic T., 2009). Research involving mouse cells and in situ immunofluorescence has revealed that the protein is present throughout the chromosome arms, but is more concentrated in the pericentromeric heterochromatin. MECP2 is developmentally regulated in humans as well as mice and is also essential for maturation of neurons. Despite decades of research on Rett syndrome and MECP2 function, it is still uncertain how MECP2 regulates transcription but also why RTT characteristics appear 6-18 months after birth.

Rett syndrome (RTT). RTT, identified for the first time in 1966 by Andreas Rett, is a rare genetic neurodevelopmental disorder that occurs predominantly in girls. The clinical features include growth failure, psychomotor regression, characteristic repetitive stereotyped hands movements, and severe problems with language, learning and coordination development. Other signs involve breathing abnormalities, seizures and scoliosis (Leonard H, Cobb S, Downs J. Clinical and biological progress over 50 years in Rett syndrome. Nat Rev Neurol. 2017 Jan;13(1):37-51). In 1999, it has been established that RTT is caused by mutations in the X-linked MECP2 (methyl CpG binding protein 2) gene (Amir et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23,

Rett Syndrome (RTT) is a rare neurodevelopmental disorder caused by a mutation of a gene on the X chromosome and therefore, more commonly found in females (Renieri et al, 2003). A limited number of cases have been documented in males (Katz et al, 2012). Prior research has shown that a mutation in the methyl CpG binding protein 2 (MeCP2) gene predominantly causes RTT (Forbes-Lorman et al, 2014). The MeCP2 gene holds the information for the production of the protein methyl cytosine binding protein 2 (MeCP2), which is required for brain development (Gonzales & LaSalle, 2010). When the MeCP2 gene mutates, it leads to a decline in cognitive development (Renieri et al, 2003). Decline in physical development such as microcephaly, and respiratory

Rett’s syndrome is a neurodevelopmental disorder characterized by the gradual loss of purposeful hand movements and development of characteristic, stereotypical hand movements (hand– wringing or hand – washing movements); loss of previously acquired speech; psychomotor retardation; ataxia; truncal apraxia; deceleration of head circumference; and autistic symptoms. These characterizations start to appear in a normally developed child after 6 months to 48 months of age170.

MECP2 is associated with numerous cellular functions including synapse, as well as dendritic spine formation, and regulation of BDNF activity. Additionally such mutations are also theorized to influence widespread inflammation which contributes towards seizure activity later on. This condition was only identified approximately fifty years ago by Austrian physician named Andreas Rett while an understanding of its underlying root cause became identified in 1999.Rett syndrome is considered a spectrum disorder given certain aspects of its manifestation given and the ability to impair normal cognitive development, as well as social functions including interacting with

Rett syndrome (RTT) was first described by Andreas Rett in 1966 and thereafter by Bengt Hagberg and colleagues in 1983.[1, 2] RTT is one of a group of neurodevelopmental disorders most often caused by de novo mutations in the X-linked methyl-CpG binding protein 2 gene, MECP2.[3, 4] RTT appears to affect almost exclusively females and the frequency is 1/10,000–15,000 live births and isusually the result of dominantly acting de novo mutations in MECP2. [2, 3, 5, 6] Females have two X chromosomes, and random　X-chromosome inactivation (XCI) occurs in roughly a 50:50 distribution in RTT patients. The variation in XCI patterns with skewing has been hypothesized to attribute to the range of severities in clinical phenotypes.[7-10] Patients with RTT

Have you ever known someone who was diagnosed with Rett syndrome? First, you have to know what it is. Rett syndrome is a genetic disease that causes the inability to use muscles used for movement and affects their ability to speak. Females are the only ones that can contract the disease. Every nine minutes, one girl is born with Rett syndrome.

My cousin Lizzie was adopted as an infant and is just a year younger than me. Growing up together, I have noticed that when we go places people stare at her and treat her differently because of her Down Syndrome. Even some of the members of our own extended family are not accepting of her and she has been excluded from attending more formal family events due to her short stature, younger looking age, and sensitivity to noise and crowds. However, socially I know that she is not that different than me. Just like any teenage girl, she loves to get her hair and nails done, hang out with friends, and use technology to stay connected. I have fond childhood memories of Lizzie coming to my house in the summer and going to the park or hanging at the pool with me. Just like me, she has activities she is passionate about, such as theater and singing, and excels at these activities.

What if I told you that today, YOU could change the world for one person. That YOU could give them comfort, inspiration, courage and hope when they needed it the most, when their health was in jeopardy – would you?

There are millions of questions that are begging to be answered, and I think that I have the potential to answer some of them. There could be a vaccine for cancer just waiting to be found in the world, and I could be the one to find it. Paraplegics could be able to walk again, and I could be a part of their recovery. Not only would I be influencing the world, but I would also be influencing distinct human lives. My experience with volunteering in schools and crisis centers has taught me a lot about the value of lives. I’ve come to really appreciate the fact that every human experiences the world as vividly as I do, meaning that they share the same feelings, from love, anger, sadness, down to pointless and sporadic thoughts and emotions. This makes me further respect the work of those who work in the medical field, as they make impacts larger than I can imagine. I know that if I were in the place of someone whose life depended on the innovations in science and technology, my existence would be highly influenced by any doctor who even simply hopes to make advancements in

In this world, there is no telling when a situation will come across a person that will change the way they live forever. Life can be drastically altered in the blink of an eye with no sign or warning. My uncle can be used as a testament to this very fact. Rick Snyder, my uncle, was diagnosed with a brain tumor a year after I was born. This 32-year-old father, son, and relative, received information that would change the way he lived for the remainder of his life.