Archive for April, 2007

Rett Syndrome Fundraiser: Elk Grove, IL April 28, 2007

Apr 25

Posted by Greg Long in Fundraising, Rett Syndrome - General | No Comments

Date

Saturday, April 28, 2007

Location

Busse Woods, Elk Grove, IL, Grove #5-16 (Enter of Higgins Road -Rt. 72 – just west of Arlington Heights Road)

Registration Information

On site registration is available. For more information please call Diane Ross at (847) 524-7540.

About This Event

From the serious runner to the recreational runner, to family members and friends of all ages the Run For Rett is an event you don’t want to miss. Make a difference in the life of those affected by Rett Syndrome; join us for the Run For Rett 5K Run/Walk & 1 Mile Fun Run.

The Cause

The mission of the International Rett Syndrome Association is to support and encourage medical research to determine the cause, treatment and cure for Rett Syndrome, and to provide informational and emotional support to families of those with Rett Syndrome.

Schedule of Events

7:00 am Race day registration and packet pick-up
8:30 am 5K Run/Walk
9:15 am 1 Mile Fun Run/Walk

Perks

ChampionChip Timing
Scenic course through the Forest Preserves.
T-shirts for the first 250 participants.
Post race activities include music, food and awards.

Packet Pick-Up
You can pick-up your packet on Saturday, April 28, 2007 at the Pre-registration Area beginning at 7:00 am.

Awards

Awards will be given to the top male and female overall finishers and to the top three male and female finishers in the designated ten year age divisions.

Timing & Results

The Run For Rett will use the ChampionChip timing system. Each participant will receive an envelope containing their timing chip. You must wear the chip on your shoe in order to be timed. No chip no time. You are responsible for returning the chip immediately after the race. Participants will be charged $30 for any lost or damaged chips. Overall results will be posted on race day. Complete results will be posted at www.chicagoaa.com

Source

www.rettsyndrome.org

Tags: Rett Syndrome

Rett Syndrome Fundraiser: Boston DKNY Shopping Event

Apr 25

Posted by Greg Long in Fundraising | No Comments

Event Date

May 3, 2007

Location

DKNY Store, Boston, MA, USA

Summary

On May 3, join Boston Herald fashion writer Jill Radsken at DKNY (37 Newbury St.) for an evening of cocktails, hors d’oeuvres and shopping. It’s all to benefit the Rett Syndrome Research Foundation and goes down from 6 to 9 p.m. Shoppers can score 15 percent off all purchases during the event, and DKNY will donate 15 percent of proceeds to the Foundation. RSVP at events@dkintl.com.

Source

http://theedge.bostonherald.com/styleNews/view.bg?articleid=196503

Tags: Rett Syndrome Research Foundation

An explanation for another familial case of Rett syndrome: maternal germline mosaicism

Apr 23

Posted by Greg Long in Genetics, Maternal germline mosaicism, MECP2, Research, Rett Researchers, Rett Syndrome - General, Science | No Comments

Abstract

Rett syndrome (RTT; OMIM#312750) is a severe neurodevelopmental disorder that affects mainly girls. It has an estimated incidence of 1:10 000–15 000 females. Mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) have been found in most patients.

The most accepted explanation for the sex bias is that the Rett mutation in sporadic cases has its origin in the paternal germline X chromosome and can thus only be transmitted to females. The majority of cases are sporadic (99.5%) but some familial cases have been described. These cases can either be explained by germline mosaicism or by asymptomatic carrier mothers with skewing of X-inactivation towards the wild-type MECP2 allele.

We describe one of the few familial cases of RTT in which a maternal germline mosaicism is the most likely explanation. The mutation p.Arg270fs (c.808delC) was identified in both a girl with classical RTT and her brother who had the severe neurological phenotype usually described in males. The mutation was absent in DNA extracted from blood of both parents.

These type of events must be taken into consideration in the genetic counselling of families after the diagnosis of a first case of RTT in a female or a MECP2 mutation in a male.

Researchers

Margarida Venâncio¹, Mónica Santos², Susana Aires Pereira³, Patrícia Maciel² and Jorge M Saraiva¹

¹Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Coimbra, Portugal
²Instituto de Ciências da Vida e da Saúde (ICVS), Escola das Ciências da Saúde, Universidade do Minho, Braga, Portugal
³Serviço de Pediatria, Centro Hospitalar de Vila Nova de Gaia, Portugal

Correspondence: Professor JM Saraiva, Serviço de Genética Médica, Hospital Pediátrico de Coimbra, Av Bissaya Barreto, 3000-075 Coimbra, Portugal. Tel: +351 239 480 638; Fax: +351 239 717 216; E-mail: j.saraiva@hpc.chc.min-saude.pt

Publication

European Journal of Human Genetics advance online publication 18 April 2007; doi: 10.1038/sj.ejhg.5201835

Received 29 September 2006; Revised 8 March 2007; Accepted 17 March 2007; Published online 18 April 2007.

Abstract Source Link

http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/5201835a.html

Tags: Maternal germline mosaicism, Rett Syndrome

Researchers discover gene that causes Noonan Syndrome

Apr 18

Posted by Greg Long in Genetics, Media Coverage, Research, Science | No Comments

Summary

ScienceDaily.com reported today that in the April 19, 2007 Issue of Neuron researchers from the Hospital for Sick Children and University of Toronto report the discovery of the genetic malfunction that causes a form of mental retardation called Noonan Syndrome (NS).

NS is a relatively common genetic disorder, occurring in one of every 2,500 live births. It is characterized by congenital heart defects, short stature, learning disabilities, and mental retardation.

The researchers speculated that “genetic perturbations such as those seen in NS, or perhaps even in more commonly studied disorders such as Rett Syndrome, might first perturb cell genesis, and then this might in turn alter many later aspects of neural development, ultimately resulting in impaired circuitry and cognitive dysfunction.”

Story Link

http://www.sciencedaily.com/releases/2006/10/061018151037.htm

Tags: Genetic research

U.S. Congressman pushes for national clearinghouse on autism

Apr 18

Posted by Greg Long in Advocacy, Autism - General, Media Coverage, Politics | No Comments

Summary

The Pittsburgh Post-Gazette reported today that on April 17, 2007 U.S. Rep. Mike Doyle introduced a bill that would provide $350 million to improve services for people with autism, creating a national "clearinghouse" for research and information on treatments.

The newspaper quoted Mr. Doyle as saying that "a long-term goal is finding a cure for autism spectrum disorder, a group of developmental disabilities — including Asperger’s syndrome and Rett syndrome." He went on to say "but in the interim, the government needs to help families gain access to treatments that help manage the illness. They know that with love and support, individuals with autism can flourish. he government has consistently failed to provide them with the services they need."

Story Link

http://www.post-gazette.com/pg/07108/778784-84.stm