61. Rett Syndrome I decided to do rett syndrome for my Web Paper because it is a disease that A girl that has rett syndrome will develop normally until about 18 months, http://serendip.brynmawr.edu/biology/b103/f01/web1/charamella.html

This paper reflects the research and thoughts of a student at the time the paper was written for a course at Bryn Mawr College. Like other materials on Serendip , it is not intended to be "authoritative" but rather to help others further develop their own explorations. Web links were active as of the time the paper was posted but are not updated Contribute Thoughts Search Serendip for Other Papers Serendip Home Page Biology 103 ... 2001 First Web Report On Serendip Rett Syndrome Deb Charamella Rett Syndrome randomly effects girls 1 in 10,000 girls. There have been a few reported cases in males however males do not live past birth. Many girls have been misdiagnosed because Rett Syndrome is closely related to other disorders, such as autism, ataxic cerebral palsy, atypical Angelman's syndrome, mitochondria disease, spinocerebellar among others. The reason that Rett syndrome is easily misdiagnosed, is because there is such a wide range in functioning among girls with Rett Syndrome. Rett Syndrome is diagnosed by the following: -Normal development until 6-18 months -Normal head circumference at birth followed by slowing of head growth -Loss of verbal language -Purposeful hand use is replaced by stereotypical hand movements such as hand clapping, constant hand wringing, or other midline hand repetitive hand movement

62. HHMI News: Rett Syndrome Traced To Defective Gene "Silencer" rett syndrome (RTT) is a neurodevelopmental disorder seen in young girls that causes a sudden and permanent decline in mental capabilities. http://www.hhmi.org/news/zoghbi2.html

Getting to the Heart of Cell Signaling Supercharging Blood-Forming Stem Cells Gaining Ground in the Race Against Antibiotic Resistance More September 30, 1999 Rett Syndrome Traced to Defective Gene "Silencer" A 14-year search for the cause of a rare genetic disease that strikes young girls has uncovered the first example of a human disease that is linked to a defective gene silencing mechanism. Rett syndrome (RTT) is a neurodevelopmental disorder seen in young girls that causes a sudden and permanent decline in mental capabilities. In 1985, HHMI investigator Huda Zoghbi , who was then a neurology fellow, published a clinical research report on Rett syndrome. Her initial encounter with the disorder had a lasting impact on her career. Shortly after seeing her first RTT patients, Zoghbi decided to change her career plans, switching from clinical medicine to a research position. Shortly after switching to research, she started the long, tedious search for the genetic causes of RTT. Huda Y. Zoghbi

63. HHMI's BioInteractive - The Puzzle Of Rett Syndrome For many years, this was the picture of rett syndrome. This means that, at least in the mouse, rett syndrome results from the lack of the Mecp2 protein http://www.hhmi.org/biointeractive/neuroscience/rett_puzzle.html

Related Stories: Huda Zoghbi, M.D. Learning in the Lab Learning from Patients: Inspiration and Insights Polyglutamine Diseases: A Devastating Genetic Stutter The Puzzle of Rett Syndrome By Laura Bonetta A disease can be a difficult puzzle to doctors and scientists until a breakthrough starts to bring a few of the pieces together. Imagine facing a three-year-old girl who cannot speak or pick up and hold things. She has abnormal breathing and she keeps moving her hands as though she is washing them. Her parents say she was a perfectly healthy baby until sometime after her first birthday. These are the telltale signs of Rett syndrome, a severe neurological disease that strikes mostly girls. But a diagnosis is difficult. There is no test for Rett syndrome, and many of its symptoms are similar to those of cerebral palsy and autism. Even with a proper diagnosis, no one knows what causes the disease or how to treat it. Finding the Gene Zoghbi faced a formidable challenge in searching for the gene responsible for Rett syndrome. "Gene hunters" rely on families with several members suffering from a disease to trace the inheritance of the responsible gene and home in on its location in the genome. But when Zoghbi started to work on Rett syndrome in the early 1980s, there were only two known families with two affected girls in each—all other cases of Rett syndrome were isolated patients. With the help of two additional small families and collaborations with other scientists, Zoghbi's group finally found the Rett syndrome gene in 1999. This was the breakthrough everyone had been waiting for.

64. Research News: Solving The Mechanism Of Rett Syndrome rett syndrome, a neurological disease, affects girls almost exclusively. (Photo courtesy the rett syndrome Research Foundation) http://www.lbl.gov/Science-Articles/Archive/LSD-Rett-syndrome.html

lab a-z index phone book search: December 20, 2004 news releases receive our news releases by email science beat Solving the Mechanism of Rett Syndrome How the First Identified Epigenetic Disease Turns on the Genes That Produce its Symptoms Contact: Paul Preuss, (510) 486-6249, paul_preuss@lbl.gov Rett Syndrome, a neurological disease, affects girls almost exclusively. (Photo courtesy the Rett Syndrome Research Foundation) Just five years ago, Rett Syndrome was tracked to mutations in a gene on the X chromosome, . But how this gene, not previously associated with the brain or nervous system, could cause a neurological developmental disorder remained a puzzle. The research was supervised by Terumi Kohwi-Shigematsu, a biochemist with Berkeley Lab's Life Sciences Division; it reveals how mutated MeCP2 protein represses genes, and identifies some of the most important of those genes. Kohwi-Shigematsu and her colleagues, Shin-ichi Horike, Shutao Cai, Masaru Miyano, and Jan-Fang Chen, report their results in the January issue of Nature Genetics (.pdf).

65. Rett Syndrome Research The primary objective of Rush University Medical Center research on rett syndrome is to determine the relationship between breathing, heart rate, http://www.rush.edu/rumc/page-R12511.html

Pediatric Pulmonology Pediatric Respiratory Medicine Pediatrics Pediatrics Rett Syndrome Research Program Description Rett syndrome is a debilitating neurologic disorder. Children with Rett syndrome appear to develop normally until six to 18 months of age. They then enter a period of regression, losing speech and hand skills they had acquired. Most develop seizures, repetitive hand movements, irregular breathing, and motor-control problems. They can live to adulthood, but most never regain the ability to use their hands or to speak The cause of the disorder is a defect in the MECP2 gene on the X chromosome. Rett Syndrome Research Team: Debra E. Weese-Mayer, MD, Principal Investigator Jan-Marino Ramirez, PhD, Co-Investigator Jean M. Silvestri, MD, Co-Investigator Christina M. Boothby, Project Coordinator Research support provided by the Rett Syndrome Research Foundation. Contact Name Debra E. Weese-Mayer, MD, Director Contact Phone Contact E-mail Contact_Rush@rush.edu Location Rush University Medical Center 1653 W. Congress Parkway, 727 Kellogg Pavilion

66. Breathing Disorder In Rett Syndrome Breathing Disorder in rett syndrome and the Malregulation of Autonomic Function. http://www.rush.edu/rumc/page-1099611530232.html

Pediatric Pulmonology Pediatric Respiratory Medicine Respiratory Disorders (Pediatrics) Children's Hospital Dysautonomia Study Bronchiolitis (Pediatric Study) Pediatric Asthma (Medication Study) Breathing Disorder in Rett Syndrome Clinical Trial Protocol ID Clinical Trial Investigator Name Debra Weese-Mayer, MD Clinical Trial Title Breathing Disorder in Rett Syndrome and the Malregulation of Autonomic Function Clinical Trial Protocol Description Clinical Trial Eligibility Criteria Female Between two and six years of age Contact Name Debra Weese-Mayer, MD Contact Phone Contact E-mail clinical_trials@rush.edu Clinical Trials Home Pediatric Respiratory Disorders Trials Breathing Disorder in Rett Syndrome Find a Doctor Health Information Clinical Services Rush News Room ... Site Map

67. Rett Syndrome Information Organization calling for rett syndrome research and education. Another great resource for finding information about rett syndrome. http://www.geocities.com/HotSprings/Spa/3247/rett_syndrome.html

Rett Syndrome International Rett Syndrome Association (IRSA) Organization calling for Rett syndrome research and education. Provides information and support to patients and their families. http://www2.paltech.com/irsa/irsa.htm National Academy for Child Development, Inc. An international organization dedicated to helping children and adults cope with developmental issues. http://www.nacd.org/index.html One to One Individualized Therapeutic Recreation A long list of therapeutic recreation links, including links for Rett Syndrome. http://www.erols.com/dawnie1/oneto1.htm Our Rett Syndrome Page Another great resource for finding information about Rett Syndrome. http://pages.prodigy.com/DebbieSchilling/irsg.htm Rett Syndrome Has technical medical information on Rett Syndrome. http://www.icondata.com/health/pedbase/files/RETTSYND.HTM Rett Syndrome Great resource page for information on Rett Syndrome, how to chat with others, personal accounts and more. http://www.familyvillage.wisc.edu/lib_rett.htm Rett~Angels Gallery A photo gallery of girls suffering with Rett Syndrome and links to their websites.

68. Rett Syndrome rett syndrome is a progressive neurological disorder in which individuals exhibit reduced muscle tone, autisticlike behavior, hand movements consisting http://healthlink.mcw.edu/article/921961093.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: autistic Receive Health Link via email! Subscribe now >> Rett Syndrome Rett syndrome is a progressive neurological disorder in which individuals exhibit reduced muscle tone, autistic-like behavior, hand movements consisting mainly of wringing and waving, loss of purposeful use of the hands, diminished ability to express feelings, avoidance of eye contact, a lag in brain and head growth, gait abnormalities, and seizures. Hypotonia (loss of muscle tone) is usually the first symptom. The syndrome affects approximately 1 in every 10,000-15,000 live female births, with symptoms usually appearing in early childhood between ages 6 and 18 months. The cause of Rett syndrome is unknown. There is no cure for Rett syndrome; however, there are several treatments options. These include treatments for the orthopedic and learning disabilities and seizures that may occur in individuals with Rett syndrome. Some children may require special nutritional programs to maintain adequate weight. In spite of the severe impairments that characterize this disorder, the majority of individuals with Rett can be expected to reach adulthood, surviving at least into their 40s. However, the risk of death is increased. Sudden, unexplained death possibly from brainstem dysfunction with respiratory arrest often occurs.

69. Coping With Rett Syndrome One symptom of rett syndrome is profound growth failure. Coping With rett syndrome was published in the February 1999 issue of Agricultural Research http://www.ars.usda.gov/is/AR/archive/feb99/rett0299.htm?pf=1

70. BBC - Health - Conditions - Rett Syndrome A guide to rett syndrome. People with rett syndrome are profoundly and multiply disabled and totally dependent on others for their needs throughout http://www.bbc.co.uk/health/conditions/rettsyndrome1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index SUNDAY 25th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Rett syndrome Dr Trisha Macnair People with Rett syndrome are profoundly and multiply disabled and totally dependent on others for their needs throughout their lives. There is currently no cure. In this article What is it? Genetic influences Further help What is it? Rett Syndrome is a complex neurological disorder, genetic in origin and predominantly affecting girls. Although signs may not be initially obvious, the condition is present at birth and becomes more evident during the second year, following an irreversible course. Typical signs include: initial normal development followed by stagnation after about one year and then regression with loss of early speech and hand movement skills, loss of walking or crawling, development of repetitive hand movements (hand-wringing), a stiff or clumsy gait, breathing problems, EEG (brainwave) abnormalities, and epilepsy (affects over 50 per cent). The gene normally shuts off production of certain proteins in the brain. When faulty, overproduction of the proteins occurs, leading to damage to the nervous system.

71. Rett Syndrome rett syndrome is a severe disorder of the nervous system. It is usually only seen in girls and affects all body movement. It causes loss of speech and hand http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Rett_syndrome?Ope

72. Our Story With Rett We were just beginning what has turned out to be our rett syndrome journey, though at that time (1981) Acceptance is the key to surviving rett syndrome. http://members.aol.com/Rsmother/ourstory.html

Welcome To ~Our Story With Rett Syndrome~ "We cannot live only for ourselves. A thousand fibers connect us with our fellow men; and along these fibers, as sympathetic threads, our actions run as causes, and they come back as effects." Herman Melville When we first found out that anything might be "wrong" with Dani, it was like going through the death of someone you love. You literally go through all the stages of grief; denial, anger, depression, grief and acceptance. Not always in that order, but most experience each emotion. "If you learn from your suffering, and really come to understand the lesson you were taught, you might be able to help someone else who’s now in the same phase you may have just completed. Maybe that’s what it’s all about after all." -Anonymous- We were seeing a group of five (5) Pediatricians and they all kept telling us the same thing, "Each child progresses at a different rate." For almost three years I listened to this. You may wonder why we didn't switch doctors..... part was probably denial, I knew something was wrong, but as long as I had 5 "professionals" telling me I was crazy, I could hold on to the last bit of hope I had.

73. Rett Syndrome - Areas Of Research - MRDDRC Back to General Topics. rett syndrome. Symptoms and genetic basis. rett syndrome is a rare neurodevelopmental disorder that occurs almost exclusively in http://mrrc.pedi.bcm.tmc.edu/research areas/rett.html

74. HUM-MOLGEN: Gene Implicated In Rett Syndrome news section of the international communication forum in human genetics hummolgen. http://hum-molgen.org/NewsGen/01-2005/msg07.html

home genetic news bioinformatics biotechnology ... register for news alert Gene Implicated In Rett Syndrome January, 11 2005 9:12 A new gene has been identified that may be involved in the pathogenesis of Rett syndrome a neurological disorder resulting in autism, seizures and loss of speech, almost exclusively in girls before the age of 18 months as reported in the January issue of Nature Genetics The primary genetic cause of Rett syndrome is a mutation in the gene MECP2, encoding a protein thought generally to affect the expression of many other genes, several of which probably contribute to the disease. The search for MECP2 'target' genes that are relevant to the development of Rett syndrome has been difficult, but Terumi Kohwi-Shigematsu and colleagues have now identified the gene DLX5 as a strong candidate. The authors found that DLX5 expression was altered in the brains of mice lacking MECP2. In humans, DLX5 is an 'imprinted' gene, and is expressed only from the copy received from one's mother. In cells from individuals with Rett syndrome, however, they found that the gene was expressed from both copies, resulting in an overproduction of the protein. DLX5 regulates the production of enzymes that synthesize gamma-aminobutyric acid (GABA), a neurotransmitter that has been linked to the development of other neurological disorders, suggesting that this pathway may have role in at least some of the features of Rett syndrome.

75. RettFAQ rett syndrome is a neurodevelopmental disorder affecting one in 10000 females. The defective MECP2 leads to development of rett syndrome, http://www.bcm.edu/pa/rettfaq.htm

RS Discovery RS Fact Sheet Zoghbi Bio Fact Sheet: Rett Syndrome What is Rett Syndrome? Rett syndrome is a neurodevelopmental disorder affecting one in 10,000 females. When was it discovered? Dr. Andreas Rett, an Austrian pediatric neurologist, first identified the disorder in 1966. What causes Rett Syndrome? A defect in the MECP2 gene on the X chromosome, as discovered by Dr. Huda Y. Zoghbi and colleagues of the Howard Hughes Medical Institute at Houston's Baylor College of Medicine. Why don't males have Rett Syndrome? Unlike females, who have two X chromosomes, males have an X and a Y chromosome. Because males lack a "back-up" copy of the X chromosome that can compensate for a defective one, mutations in MECP2 are lethal to the male fetus. One thought is that males carrying a mutation in the RS gene never develop normally and miscarry early - maybe so early that there is never recognized pregnancy. That's why Rett syndrome is found in females only. Girls with a mutated MECP2 on one X chromosome are able to survive if they have a normal MECP2 gene on the other X chromosome. But because the two X chromosomes are activated randomly, girls might have the normal MECP2 gene active in some cells and the defective copy active in other cells. The defective MECP2 leads to development of Rett syndrome, and the severity of the disorder depends on the percentage of defective MECP2 genes that are active.

76. RETT@LISTSERV.BROWN.EDU RETT@LISTSERV.BROWN.EDU. rett syndrome Forum. List name, RETT. Host name, LISTSERV.BROWN.EDU (Brown University). Subscribers, 71. Features http://www.lsoft.com/scripts/wl.exe?SL1=RETT&H=LISTSERV.BROWN.EDU

77. Rett Syndrome Noonan Syndrome rett syndrome SaethreChotzen Sanfilippo Syndrome Smith-Lemli-Opitz Thrombosis Panel Uniparental Disomy X-Inactivation http://www.ggc.org/Diagnostics/Molecular/rett_syndrome.htm

Rett Syndrome Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; Rett Syndrome A neurodevelopmental disorder that affects females, Rett syndrome is associated with cortical atrophy, stereotypical hand movements and severe mental deficiency. With an incidence of 1 in 10,000 - 15,000, it is one of the most common causes of mental retardation in females. Rett syndrome is characterized by loss of acquired skills after a period of normal development in infancy. Mutations in X-linked methyl-CpG binding protein 2 (MECP2) which cause Rett syndrome include both nonsense (R168X and R255X) and missense (R106W and R306C) mutations. Genetic analysis for Rett Syndrome at the Greenwood Genetic Center includes complete sequencing of the entire coding region of the MECP2 gene. Specimen requirements : 5 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted. Please contact the laboratory for more information. Transport : Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery. However, our lab does accept specimens on Saturdays.

78. Great Mississippi River Race For Rett Syndrome The Great Mississippi River Race for rett syndrome, May 2001 is the longest canoe/kayak marathon race in history. Five dauntless, courageous teams used only http://www.dreamkeeper.org/

The Great Mississippi River Race for Rett Syndrome, May 2001 The Race Teams Flagship Double Helix ... Mississippi River Team Kruger Team Double Helix Team Alaska Team Rebels With A Cause Amazons of the Mississippi The Great Mississippi River Race for Rett Syndrome, May 2001 is the longest canoe/kayak marathon race in history. Five dauntless, courageous teams used only human muscle powered propulsion of 2 person boats to travel 2,348 miles down the Mississippi River from Lake Itasca, Minnesota to the Gulf of Mexico. Physical and mental endurance were taken to the extreme while attempting to paddle nonstop to the Gulf of Mexico in world record time during this charity event. More importantly, participating teams and families from across the country raised awareness of Rett syndrome in the scientific community and research funds to find a cure.

79. Research - Rett Syndrome Association UK The rett syndrome Association UK funds research, and gives help, advice, Jeans for Genes’ monies will help the rett syndrome Association to fund two http://www.jeansforgenes.com/2_about/2085_aboutrett.php

What is Jeans for Genes? About the Charities Why Support Us Personal Stories ... Site Map Rett Syndrome Association UK What does the Rett Syndrome Association UK do? How will Jeans for Genes donations help? Visit www.muscular-dystrophy.org The other charities involved Where the funds are going Quick Links Watch our new videos: About Jeans for Genes Get your Jeans On! Badge and Wristband Outlets ... working together Hannah, aged 9, has Rett syndrome. Read Hannah's story Back Subscribe here! Home ... TMB UK Ltd

80. Rett Syndrome Penn State Children s Hospital provides world class care and services to patients. http://www.hmc.psu.edu/childrens/healthinfo/r/rhett.htm

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 121    Back | 1  | 2  | 3  | 4  | 5  | 6  | 7  | Next 20