ALS: From Genetic Complexity to Treatment Challenges and Advances
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 with the fatal disease is typically 2-5 years after diagnosis ...
Inherited Retinal Disorder: In Vivo CRISPR Therapy Provides Vision Improvements
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 Amaurosis (LCA). The early-onset condition is the leading cause of ...
Angelman Syndrome Treatment Efforts and a Novel Prenatal Strategy
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, early-onset neurodevelopmental disorder affecting approximately one in 12,000 to 20,000 ...
Treating Genetic Causes of Dravet Syndrome
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, his mom took him to the ER, where he started ...
Hope of New Treatments for Chronic Liver Disease MASH (NASH)
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 successful clinical trials are providing hope that this may change. ...
RNA Single-base Editing Therapy that Treats Genetic Lung and Liver Disease Entered Clinical Trials
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 (AATD). Knowing it was a genetic condition, the doctors tested ...
ALS: From Genetic Complexity to Treatment Challenges and Advances
Amyotrophic Lateral Sclerosis (ALS), commonly called Lou Gehrig's disease, is a neurodegenerative disorder of the ...
Inherited Retinal Disorder: In Vivo CRISPR Therapy Provides Vision Improvements
Inherited retinal disorders (IRDs) are the leading cause of visual impairment, affecting approximately 1 in ...
Angelman Syndrome Treatment Efforts and a Novel Prenatal Strategy
Imagine finding out your child may never walk, talk, feed, or dress themselves. Never have ...
Treating Genetic Causes of Dravet Syndrome
In September 2014, identical twins Hudson Blake and Grady Lee were born and appeared seemingly ...
Hope of New Treatments for Chronic Liver Disease MASH (NASH)
In the early stages of Metabolic Dysfunction-Associated Steatohepatitis (MASH), many patients are asymptomatic, though some ...
RNA Single-base Editing Therapy that Treats Genetic Lung and Liver Disease Entered Clinical Trials
When Peggy's mom was in her forties, she started to have trouble breathing. Although she ...
