Recessive Gene

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Fundraiser to assist Bethel girl with Tay-Sachs

Published July 9, 2009, 6:47 pm, The News-Times

The first year and a half of Bethel resident Isabela Roman's life were normal, happy, and healthy. Then, at around eighteen months, her parents began to notice that something was not right.She lost her ability to walk, and was reduced to crawling wherever she went.

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Fundraiser Sunday for Bethel toddler with Tay-Sachs

Published July 9, 2009, 6:46 pm, The News-Times

The first year and a half of Bethel resident Isabela Roman's life were normal, happy and healthy. Then, at about 18 months, her parents began to notice that something was not right.Isabela lost her ability to walk and was reduced to crawling wherever she went.

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Discovery of key gene for bone development that when mutated lead to dwarfism

Published July 9, 2009, 12:49 pm, News-Medical-Net

Scientists have just discovered the gene behind Recessive Omodysplasia, a rare skeletal disease characterised by short-limbed dwarfism and craniofacial anomalies.

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Two new tigers call Issaquah home

Published July 9, 2009, 12:20 pm, Issaquah Press

NEW — Noon, July 9, 2009 Issaquah’s Cougar Mountain Zoological Park is the recipient of two new Bengal tiger cubs. “We are very happy. We want people to come out and be a part of these two boys’ lives,” said Robyn Barfoot, general curator for Cougar Mountain. “If it weren’t for our guests, we wouldn’t be able [...]

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Reality-show parents share experiences with Russellville family

Published July 8, 2009, 11:16 am, The Russellville Courier

Story date: July 8, 2009 By Cindi Nobles education@couriernews.com Ron and Peggy Roloff of TLC’s reality show “Little People, Big World” rolled into town last week to visit Willie and Lori Johnson, a Russellville couple who adopted a child with diastrophic dysplasia, a form of dwarfism.

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Key Gene For Bone Development That When Mutated Lead To Dwarfism

Published July 8, 2009, 9:45 am, redOrbit

Scientists have just discovered the gene behind Recessive Omodysplasia, a rare skeletal disease characterized by short-limbed dwarfism and craniofacial anomalies.

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Key Gene For Bone Development Discovered: When Mutated It Lead To Dwarfism

Published July 8, 2009, 5:21 am, Science Daily

Scientists have just discovered the gene behind Recessive Omodysplasia, a rare skeletal disease characterized by short-limbed dwarfism and craniofacial anomalies. The work reports the identification, on chromosome 13, of a gene - GPC6 -- that is shown to be crucial for normal bone development.

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My Pharmiweb.com

Published July 8, 2009, 2:04 am, PharmiWeb

Lexington, Massachusetts, US – July 6th, 2009 – Shire plc (LSE: SHP, NASDAQ:SHPGY), the global specialty biopharmaceutical company, announces that, at the request of the FDA, in view of a potential restriction on the availability of the current approved and marketed treatment for Gaucher Disease patients, it has filed a treatment protocol for velaglucerase alfa, its enzyme replacement therapy in ...

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A Culprit in Infertility, Overlooked Yet Treatable

Published July 7, 2009, 6:03 am, The Hendersonville Times-News

LAURIE TARKAN A hormone deficiency, often misdiagnosed, can affect ovulation.

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Shire Has Filed A Treatment Protocol For Velaglucerase Alfa For Gaucher Disease

Published July 7, 2009, 4:14 am, Medical News Today

Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, announces that, at the request of the FDA, in view of a potential restriction on the availability of the current approved and marketed treatment for Gaucher Disease patients, it has filed a treatment protocol for ve

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