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The Samantha Corpus Foundation

Photo Apr 02, 2 01 34 PMToday I would like to share some information on a topic that is near and dear to my heart.  How many of you have heard of Rett Syndrome?  I had little or no knowledge of this neurological disorder until my best friend’s daughter Samantha was diagnosed with it.  In an effort find a cure, John Corpus and his family started a fundraising golf tournament 10 Years ago!  Please read the information that follows and consider making a donation to this worthy cause or better yet, play in the tournament or volunteer!

Our Mission

Our Mission: Our mission is to find the cure for Rett Syndrome.

The Samantha Corpus Foundation’s beliefs and purposes are: The belief that the cure for Rett Syndrome is within ten years. The belief that the treatments for symptoms of Rett Syndrome are achievable much sooner. To support, fund, and accelerate research for the treatment and cure for Rett Syndrome. To increase public awareness of Rett Syndrome.

ABOUT RETT SYNDROME: Rett Syndrome is a debilitating neurological disorder diagnosed almost exclusively in females. Children with Rett Syndrome appear to develop normally until 6 to 18 months of age when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. Rett leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. Though Rett Syndrome may affect males, few are known to survive pregnancy. There is no known cure. Our best hope is through research to understand and develop an effective therapy to find the cure.

OUR GOAL: Raise money to increase public awareness of Rett Syndrome, fund research for treatment and, ultimately, a cure.

OUR BACKGROUND: Samantha was diagnosed with Rett Syndrome at age 3 ½. While most children are learning their colors and shapes, Samantha was seeing medical specialists at The Blue Bird Circle Rett Center of Baylor College. Samantha is a high functioning girl with Rett Syndrome and Samantha is seizure free for the most part, though she cannot speak and has developed the hallmark repetitive hand wringing. Samantha is 16 years old and lives with her parents John and Kathy, and her two brothers, Julian (18) and Jacob (13), in Alamo. Samantha has a smile that will light up a room and an innate fighting spirit. She is an active and very social little girl who can run, skip and jump. Samantha receives physical, occupational and speech therapy through her school and also participates in music therapy, dance therapy, special needs soccer and basketball to increase the quality of her and her family’s lives. Samantha is a very special girl taking on great challenges!

Tournament Details

10th Annual Golf Tournament Details & Event Schedule

 

Date: Tuesday May 19, 2015
Time: 9:00am – 7:00pm
Location: Blackhawk Country Club – Lakeside Course and Falls Course
Blackhawk, CA
Tournament Format: Four-person scramble
Prizes for Top Three Teams
Special Awards for: Closest To The Hole, Longest Drive, Most Accurate Drive, and Putting Contest

Fee : Tournament fee is $350 per player. Fee includes pre-tournament gathering, a great day of golf, food and beverages during the tournament, live and silent auctions, lunch, dinner, tee prizes and the contribution to an important cause. Only $60 to attend the dinner and evening festivities, $30 for kid’s dinner. Invite your significant other and family to join in the evening fun.

Dress Code : Blackhawk dress code strictly enforced. Country club casual – No jeans, cutoffs, tank tops, t-shirts, gym shorts or jogging suits; Men must wear collared shirts at all times; No bare feet, sandals or elevated heels. Non-metal spikes only.

Tenative Event Schedule

9:00 am • Registration
• Raffle and Mulligan Sale
• Pre-Tournament Breakfast
• Pictures with Cheerleaders
• Driving Range Opens (meet the range cart at putting green)
• Putting Contest Opens
10:30 am • Driving Range Closes
• Putting Contest Closes
10:45 am • Call to Carts
• Special Thanks by John Corpus
11:00 am • Shotgun Start
4:30 pm • 19th Hole Party
• Last call for Silent Auction
• Raffle Sale
5:30 pm • Dinner, Live Auction and Awards Presentation

Research

The following paper was released by the online journal Science Express at 2pm on February 8, 2007:

Reversal of Neurological Defects in a Mouse Model of Rett Syndrome Jacky Guy, Jian Gan, Jim Selfridge, Stuart Cobb, Adrian Bird

Acknowledgement: This research was funded by grants from Wellcome Trust, Rett Syndrome Research Foundation and Rett Syndrome UK/Jeans for Genes

The Experiment: The laboratory of Dr. Adrian Bird at the University of Edinburgh, Scotland, genetically modified mice so that production of MeCP2 could be stopped for a period of time and then allowed to be produced and serve its normal function. This created the equivalent of a “temporary” mutation. The question was if the “temporary mutation” was in place long enough for all the mouse symptoms of Rett Syndrome to appear and run their course, would it then be too late to reverse symptoms and improve the disorder when normal MeCP2 function was restored.

The Study: The technology used in this study is called Cre-lox. The method provides a way of locking and then unlocking a gene. Mice were genetically modified to keep MECP2 silenced by inserting a foreign piece of DNA called a lox Stop cassette, thereby creating a model of the deficits seen in Rett.Syndrome. The lox Stop cassette could be spliced out, at will, by using a protein called Cre. Cre was kept anchored to an estrogen receptor in the cytoplasm of the cell while the mice, deprived of functioning MECP2, developed the Rett Syndrome symptoms. Symptomatic mice were then treated with a drug to release the Cre, which migrates to the nucleus and splices out the lox Stop cassette, unlocking MECP2 and allowing it to function normally. In this genetic manipulation, the normal gene is already present in the mouse model but is under the control of tamoxifen, an estrogen analogue, and is only activated by dosing with tamoxifen.

The Results: Turning off MeCP2 resulted in mice that had the full mouse symptoms of Rett syndrome (most but not all match human symptoms). When MeCP2 was gradually turned on in these mice, Rett syndrome symptoms were reversed even in mature mice where symptoms has been allowed to progress and some mice were days from dying. Long term potentiation (LTP), a cellular basis of learning and memory, is defective in mouse models of Rett syndrome. In this study LTP was defective when MeCP2 was locked and LTP was then restored to its normal function by the reversal experiments.

The Conclusions: This paper shows that while Rett syndrome has a neurodevelopmental component, it should not be considered a strictly neurodevelopmental disorder with a point of no return. The key finding is a proof of concept. The neurological abnormalities in mouse models of Rett syndrome are reversible, even after they are already evident. The exciting implication this suggests is that in humans treatment does not need to begin at birth or before the onset of typical features of Rett syndrome. While the genetic manipulation used in this study is not applicable to human treatments, it opens the door to the development of new therapeutic approaches.

Cautionary Notes: The authors’ conclusion suggests no direct therapeutic intervention in humans. Two cautionary notes are mentioned. One is that aggressive activation of the gene in male mice lacking any MeCP2 expression resulted in death of 9 of 17 animals. The remaining animals showed a return to ‘normalcy’. Thus, the effect of aggressive gene activation is all or none. The authors also acknowledge that studying the males is not the most proper approach – or, as stated in the paper, female mice with some cells already expressing the normal gene ‘may be the most appropriate model’ to study RS in humans. It appears that activation of the normal gene in these females was accomplished more slowly and did not produce the all or none phenomenon noted in the males.

Thank you in advance for your interest and assistance.

The Samantha Corpus Foundation Team would be happy to answer any questions you may have regarding The Samantha Corpus Foundation and The Samantha Corpus Golf Tournament.

You can contact them at samantha@samanthacorpus.org.

http://samanthacorpus.org/wp/tournament-details/

For more information on Rett Syndrome, visit www.rettsyndrome.org.

#FindACure #samanthacorpus #Rettsyndrome #WorthwhileFundraiser #Donate #Milyoni

 

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Excalibur Cigar Lounge – San Diego, California

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For more information visit www.excaliburcigarlounge.com

#sandiego #cigars #montecristo #friends #wine #biggesthumidor #jonathanbayaniphotography

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For more information visit www.voyagerexcursions.com

#whalewatching #voyager #graywhales #dolphins #humpbackwhales #sealions #voyagerexcursions

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#fit4mom #southbayla #strollerstride #veteranspark #healthandfitness #workout #saturday #mommyandme

For more information visit fit4mom.com

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South Bay Wildlife Rescue is dedicated to caring for California native birds and educating the public about the natural world. They rehabilitate over 1000 sick, injured and orphaned birds for return to the wild every year and see over 30,000 children and adults with wildlife and environmental education.  SBWR has state and federal permits for wildlife rehabilitation and wildlife education.

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I love what this organization stands for and would encourage everyone to find out more. They are always looking for volunteers.

#widlife #owls #redtailhawks #ranchopalosverdes #volunteer

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