According to a story from Xtalks, there has been an uptick in research related to rare diseases and the development of new therapies for them. Despite this, only a small…
Familial Chylomicronemia Syndrome Familial chylomicronemia syndrome (FCS) is a condition that is considered ultra-rare. It's caused when the enzyme called lipoprotein lipase (LPL) is impaired. It is can result in…
According to a story from The Irish Times, a recent report issued by the Irish Pharmaceutical Healthcare Association (IPHA) indicates that Ireland trails many other European countries in approving new…
According to a story from finance.yahoo.com, the US Food and Drug Administration (FDA) has recently released new guidelines that are related to how the agency will regulate and manage the…
NICE stands for the National Institute for Health and Care Excellence in England. This organization is responsible for evaluating the cost effectiveness of all medications as they come to the…
Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is caused by a mutation in the SMN1 gene. This mutation results in a loss of motor neurons causing weak and atrophied muscles.…
According to a publication from SMA News Today, Scotland is now the latest country to make spinal muscular atrophy (SMA) drug Spinraza available to patients at low or no cost…
Second Annual International Congress on Advanced Treatments in Rare Diseases The first International Congress on Advanced Treatments in Rare Diseases, otherwise known as RARE2018, was held in London, England. Now,…
Passsage Bio Passage Bio has just announced that they've received 115.5 million dollars to help advance their development of gene therapies. They will begin by using the funds to further…
An article recently published by the Guardian shared the stories of three families affected by recent breakthroughs in gene therapy treatments. What is Gene Therapy? Gene therapy is an increasingly…
A recent interview with David Alvarez and his mother in the CTPost explains how he manages to remain positive after being diagnosed with spinal muscular atrophy (SMA). David is a freshman…
According to a story from mirror.co.uk, a five-month-old girl named Maryam Malji was diagnosed with spinal muscular atrophy, a progressive, degenerative disease that is ultimately fatal without treatment. Her brother…
Time for Revision Like many things in this world, research for rare diseases such as Spinal Muscular Atrophy (SMA), Multiple Sclerosis, and Duchenne Muscular Dystrophy (DMD) has evolved substantially in recent years. This evolution…
According to a story from arkansasonline.com, Rep. Julie Mayberry R-Hensley of the Arkansas General Assembly is sponsoring House Bill 1074. This legislation proposes adding the rare and potentially fatal genetic…
Ionis Pharmaceuticals and Roche have been collaborating on a drug for Huntington's Disease which will treat the root cause of the condition. Currently, there are no such approved treatments, meaning…
Precision mNedicine is the latest craze in rare disease research. Thankfully for patients, it is completely, 100% centered on improving the quality of their care. Unlike most typical healthcare practices,…
Spinal muscular atrophy (SMA) is a genetic condition which affects between 10,000 and 25,000 in the United States. While rare, it is currently the leading genetic cause of infant mortality. But,…
Every day the scientific community makes progress in the study of rare disease. Research in the field has advanced exponentially in recent years and we're starting to see more treatments…
A recent article by NBC News is highlighting a growing concern among parents and professionals alike over the effectiveness of newborn genetic screening. There is a certain place between knowing…
According to a story from physiciansweekly.com, a recent report from the Institute for Clinical and Economic Review (ICER) suggests that, pending more data about overall price and longterm success rates,…
Myasthenia Gravis (MG) is a progressive autoimmune disorder which results in the weakening of muscles. Most people with the condition are able to manage their symptoms with treatment and have…
People with spinal muscular atrophy and other rare conditions with either few or no approved treatments have recently had their hope of a cure renewed by the concept of gene therapy. Basically,…
What if you could prevent all of the world's most fatal genetic diseases? According to Lee D. Cooper, there's a way- we're just not educating people on how to do…
According to a story from pm360online.com, the pharmaceutical company Roche recently announced that its investigational therapy risdiplam has awarded PRIME designation from the European Medicines Agency (EMA). The drug has…
Who's in the mood to help grant a young girl her Christmas wish this year?! People who know 10-year-old Paola Vega describe her as a cute, spunky princess who can't…
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