Final Project- Rylee Yauger by Rylee Yauger

Description of disease:

yaugerrylee — 2023-10-31 18:41:16 UTC

Rett Syndrome is a rare genetic disorder caused by a mutation on a gene on the X Chromosome. The disorder usually results from a random genetic mutation rather than being inherited. Rett syndrome affects the nervous system, causing intellectual and physical disability. While it is a life-long condition with no cure, treatment and therapies can help manage symptoms, especially when the treatment is started early enough. It is also found to usually affect females. This disease is named after Andreas Rett, the doctor who originally described it (Syndrome Foundation, I. R, 2023).

Symptoms:

yaugerrylee — 2023-10-31 18:41:56 UTC

Rett syndrome can cause different symptoms, ranging from mild to severe, that can show up between 6 and 18 months of age. Some symptoms include; slow head growth, little interest in social interaction and small hands and feet (Health Direct, 2023).

Mutation/gene that causes the disease:

yaugerrylee — 2023-10-31 18:42:19 UTC

Most cases of Rett syndrome are caused by the mutation on the Methylcytosine-binding protein 2 (MECP2) gene. The MECP2 gene is located on the X chromosome. Mutations on two other genes can cause some of the atypical variants of Rett syndrome: Congenital Rett syndrome (Rolando variant) is associated with mutations of the FOXG1 gene, and CDKL5 mutations are linked with the early-onset, or Hanefeld, variant (NIH, 2022).

Prevalence of the disease:

yaugerrylee — 2023-10-31 18:42:46 UTC

The incidence of Rett syndrome in the United States is estimated to be 1 in 10,000 girls by age 12. Cases of Rett syndrome can go undiagnosed or misdiagnosed, making it difficult to determine the disorder's true frequency in the general population (Stanford Medicine Children's Health, 2023).

Any known methods of testing and treatment:

yaugerrylee — 2023-10-31 18:43:06 UTC

As of right now there are no known cures for Rett syndrome, most of the treatments used for this disease are mostly treating the severe symptoms. Though medications can't cure Rett syndrome, they may help control some signs and symptoms that are part of the disorder. Medications may help with seizures, muscle stiffness, or problems with breathing, sleep, the gastrointestinal (GI) tract or the heart (Mayo Clinic, 2022).

Works cited:

yaugerrylee — 2023-10-31 18:43:35 UTC

Syndrome Foundation, I. R. (2023). Retrieved from https://www.rettsyndrome.org/about-rett-syndrome/what-is-rett-syndrome/

Healthdirect Australia. (n.d.). Rett syndrome. healthdirect. https://www.healthdirect.gov.au/rett-syndrome

National Institutes of Health. (2022). Retrieved from https://www.nichd.nih.gov/health/topics/rett/conditioninfo/causes#:~:text=In%201999%2C%20NICHD%2Dsupported%20scientists,mutation%20in%20the%20MECP2%20gene .

Default - Stanford Medicine Children’s health. (n.d.). Retrieved from https://www.stanfordchildrens.org/en/topic/default?id=the-genetics-of-cystic-fibrosis-90-P02933#:~:text=Once%20parents%20have%20had%20a,carriers%20of%20the%20CF%20gene .

(2022). Retrieved from https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

International Rett Syndrome Fundation . (2023, July 13). Clinical Trial News & Updates. Retrieved October 31, 2023, from International Rett Syndrome Foundation website: https://www.rettsyndrome.org/clinical-trial-news-updates/

National Institute of Neurological Disorders and Stroke. (2023, September 20). Rett Syndrome. Retrieved October 31, 2023, from National Institute of Neurological Disorders and Stroke website: https://www.ninds.nih.gov/health-information/disorders/rett-syndrome#:~:text=The%20National%20Institutes%20of%20Health

Current Studies Relevant to Rett syndrome:

yaugerrylee — 2023-10-31 18:56:50 UTC

During the clinical trial process, many clinical trial sponsors will provide community updates or news articles on the status of their study. When available, we will post their updates below. The most recent clinical trial is from Acadia Pharmaceuticals using the drug DAYBUE, otherwise known as Trofinetide, to treat Rett Syndrome (International Rett syndrome Foundation, 2023).

Importance of Understanding Rett syndrome:

yaugerrylee — 2023-10-31 19:01:36 UTC

The National Institutes of Health (NIH) supports research on Rett syndrome. Understanding the cause is necessary for developing new therapies to manage specific symptoms, as well as improving diagnostic tools (National Institute of Neurological Disorders and Stroke, 2023).