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Gene Sequencing Diagnoses Paralympic Hopeful's Rare Disease
Tuesday, June 18, 2013
UK national cycling champion Tom Staniford suffers from an extremely rare genetic disease that went undiagnosed until nowFor years, Tom Staniford has defied the odds, becoming a national cycling champion in Great Britain despite a debilitating illnessNow, researchers have learned what's causing h
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Six-Month-Old English Baby With Rare Chromosomal Disorder Emanuel Syndrome to Rejoin Parents
Tuesday, June 18, 2013
April Karmazyn-Wall, a six-month-old baby suffering from the extremely rare genetic disorder Emanuel syndrome, may soon be joining her parents at home in Wallsend, a town in North Tyneside, England, Chronicle Live reportsCaused by an extra chromosome called derivative 22 referred to as der(22), Em
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Evaluate Launches Enhanced Orphan Drug Intelligence
Tuesday, June 18, 2013
The worldwide orphan drug market is set to reach $127 billion by 2018, accounting for nearly 16 percent of total prescription drug sales, according to the recently released Orphan Drug Report 2013 from EvaluateTo better serve its clients' needs in regard to this growing segment of the pharmaceutic
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Native American Myopathy: A Breakthrough in Rare Disease That Only Affects Lumbees
Tuesday, June 18, 2013
PROSPECT - When her son, Gene, was only a few days old, Cassandra Locklear said doctors labeled him with a foreboding prognosis: "failure to thriveThe muscles in his mouth were so weak that he couldn't suck a bottle, Locklear saidDoctors weren't sure what was wrong, and, without the ability to ge
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ALS TDI Tri-State Trek Charity Bike Ride to Take Place July 19-21
Tuesday, June 18, 2013
The ALS Therapy Development Institute (ALS TDI) will hold its 11th annual Tri-State Trek charity cycling event on July 19-21, 2013. The Tri-State Trek is a three-day, 270 mile bike ride from Newton, MA to Greenwich, CT with the mission to end amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease
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Native American Myopathy: A Breakthrough in Rare Disease That Only Affects Lumbees
Monday, June 17, 2013
When her son, Gene, was only a few days old, Cassandra Locklear said doctors labeled him with a foreboding prognosis: "failure to thriveThe muscles in his mouth were so weak that he couldn't suck a bottle, Locklear saidDoctors weren't sure what was wrong, and, without the ability to get the nutri
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Rare Disease Hits Young King George Father
Monday, June 17, 2013
Nichole Langa was describing the way a rare disease changed her husband from a vibrant athlete, enrolled in a leadership program with the federal government, to a man who can barely walk or talk and has gauze stuffed in his mouth to absorb excess salivaAt times, she stopped and looked into the dar
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Family Seeks Help for Child With Rare Disease
Monday, June 17, 2013
Janiya suffers from spinocerebellar ataxias. It is a hereditary defect in a certain gene that makes abnormal proteins. The abnormal proteins hamper the ability of nerve cells, primarily in the cerebellum and spinal cord, to function properly and cause them to degenerate over time. As the disease A
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FDA Finalizes Changes to Orphan Drug Regulation, With Emphasis on Clarifying Existing Policies
Monday, June 17, 2013
US regulators have finalized a regulation they say makes some relatively minor changes to the orphan drug regulations and largely, but not entirely, finalizes the regulations as released in October 2011BackgroundFDA's orphan drug regulations are intended to create market-based incentives for manu
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Northlanders Rally Around Family of Boy With Rare Illness
Friday, June 14, 2013
People in Northland are rallying to support the family of a two-and-a-half-year-old Whangarei boy who is suffering from a rare illnessMostyn Baigent has a movement disorder known as anti-NMDA receptor encephalitisHis father Aaron says Mostyn was recently due to leave Starship Hospital, when it wa