Recent Articles

A clinical trial for a drug designed to treat the rare neurodevelopmental disorder known as Angelman syndrome (AS) has achieved a favorable safety profile and lessening of overall symptoms in trial participants. In a recent press release, Ionis announced the detailed HALOS study results for the multiple ascending dose ...

Described as a combination of Alzheimer's disease, Amyotrophic lateral sclerosis, and Parkinson's disease all at once, Huntington's disease is a rare and debilitating neurological disorder passed down within affected families. With a 50% chance of a child inheriting it from a parent with the HD mutation, the fatal disease ...

Amyotrophic Lateral Sclerosis (ALS), commonly called Lou Gehrig's disease, is a neurodegenerative disorder of the motor neurons that causes progressive muscle weakness and respiratory failure (1). ALS is the most common motor disease among adults (2), affecting around 60,000 people in the U.S. and Europe. Life expectancy for those ...

Inherited retinal disorders (IRDs) are the leading cause of visual impairment, affecting approximately 1 in 2,000 people of all ages worldwide (1). There are many types of IRDs, each caused by a gene variant that affects how the retina functions, with one of the most severe being Leber Congenital ...

Imagine finding out your child may never walk, talk, feed, or dress themselves. Never have a job, get married, or have children. Never live independently. This long list of milestones never to be met is the experience for many parents with children diagnosed with Angelman syndrome (AS), a rare, ...

In September 2014, identical twins Hudson Blake and Grady Lee were born and appeared seemingly perfect. However, when their mom went to return to work when the boys were 12 weeks old, she started to notice they both had an odd shiver. When Hudson began shivering again one day, ...

In the early stages of Metabolic Dysfunction-Associated Steatohepatitis (MASH), many patients are asymptomatic, though some may feel weak or fatigued or have an ache in their upper right abdomen. While lifestyle changes can help patients diagnosed early enough, more advanced stages of the disease have fewer options. However, recent ...

When Peggy's mom was in her forties, she started to have trouble breathing. Although she had never smoked, she had been exposed second-hand earlier in her life. Eventually, her mother ended up at the Mayo Clinic, where she was the 36th patient to be diagnosed with Alpha-1 Antitrypsin Deficiency ...