Tay-Sachs disease is a rare, genetic and sadly fatal condition. It's a neurodegenerative disorder caused by an impaired production of the β-Hexosaminidase A enzyme (HEXA). Symptoms of this condition include listlessness, diminishing…
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…
According to a story from Fierce Biotech, the results of a year-long study examining the utility of the groundbreaking gene-editing technology CRISPR in treating the rare genetic disorder Duchenne muscular…
The Star Gazette recently reported that Alan Ramsay Evans, a 34-year-old man from Horseheads, New York, remains in the hospital after developing respiratory failure. Three decades ago, when he was…
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…
Duchenne Muscular Dystrophy Duchenne muscular dystrophy (DMD) is a rare, progressive, and fatal condition. It primarily affects males (1 out of every 3,600 to 6,000 male births). It's caused by…
The Problem One of the greatest challenges in the investigation of nanoscale treatments for people with rare diseases is figuring out how to administer the therapy to the correct part…
What is Duchenne Muscular Dystrophy? Duchenne muscular dystrophy (DMD) is a rare genetic condition that is ultimately fatal. It causes muscles to weaken and usually results in heart failure before age…
According to a story from pm360online.com, the life sciences company Solid Biosciences has released some preliminary findings from its Phase 1/2 clinical trial of SGT-001. This investigational product is in…
Duchenne muscular dystrophy (DMD) has gained recent attention. New symptom management and gene therapy treatments are at the forefront of DMD research. DMD is a genetic disease characterized by progressive…
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 an article published by Washington University of Medicine in St. Louis, scientists appear to have succeeded in slowing axon destruction in mice through standard gene therapy. Though an…
Cameron Dixon is a 17-year-old boy living with muscular dystrophy. His family was first told that he would most likely never be able to walk, eat, or talk, and that…
According to a story from drugs.com, the biopharmaceutical company Catabasis pharmaceuticals recently provided updates on the status of its Phase 3 clinical trial testing its investigational therapy CAT-1004, also known…
Limb Girdle Muscular Dystrophy Type 2D (LGMD2D), also called alpha-sarcoglycanopathy, is a form of muscular dystrophy which is caused by a defected SGCA gene. It causes the body to lose function of…
It has just been announced that Capricor Therapeutics has put their Duchenne Muscular Dystrophy (DMD) clinical trial on hold. Fortunately, the company does plan on continuing the trial. What is…
"It helps to share experiences with others who understand what I am going through." Jill Price, a mom with Charcot-Marie-Tooth Disease talks about how social media has helped create a…
According to a story from globenewswire.com, the biotechnology company Wave Life Sciences Ltd. recently announced that the tolerability and safety data from its Phase 1 clinical trial of its investigational therapy…
According to a story from EurekAlert!, monitoring lung function is an important role of managing Duchenne muscular dystrophy and other diseases that can cause wasting of the respiratory muscles. Many…
Andrew Taylor celebrated his 50th birthday this year. This is a big year for anyone, but especially for Taylor, who was told he would not make it to the…
Earlier this month marked a solemn 34 years since the horrendous Bhopal disaster. The worst industrial disaster in human history killed over 3,800 almost instantly, and tens of thousands in…
"It's funny to say grief as it is not a bereavement but you kind of are grieving the loss of the child you thought you had and the future they…
We all got really excited last year when India implemented a new plan to benefit rare disease patients. It was called the National Rare Disease Policy. Basically, it put 12.86…
Limb-Girdle Muscular Dystrophy or LGMD, is a form of Muscular Dystrophy caused by a mutation which disrupts production of the protein beta-sarcoglycan. There are currently no treatment options for LGMD and…
Biobanks store biological samples to help scientists research certain diseases. Registries collect information from patients and standardize it, but no samples are stored. Which of these is best for rare…
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