[ad_1]
The immense impact that Bella Sobah made on everybody that she met in her life was nothing short of incredible and inspiring. Her family, her former classmates, and her mentor want to make sure that she is remembered and celebrated forever.
“She was a ray of sunshine that came into my life and I will never forget her,” Dr. Ahna Skop, UW-Madison genetics professor and Sobah’s capstone mentor, tells Madison365. “Very simply, she just changed my life. And she changed all of the lives of her classmates.”
The Madison community lost a brilliant, charismatic, inspiring and visionary young woman when Sobah unexpectedly passed away last week.
She was only 25 years old.
Featured Image, Courtesy of Bella Sobah
Full article @ Madison 365
KOLUMN Magazine – Context
The University of Wisconsin-Madison
Since its founding in 1848, this campus has been a catalyst for the extraordinary. As a public land-grant university and prolific research institution, our students, staff, and faculty members partake in a world-class education and solve real-world problems. We’ve changed the way the nation takes its vitamins and brought flamingos to Bascom Hill. We’ve inspired satirists and senators alike. We’ve fearlessly sifted and winnowed to find today’s truths. And with the Wisconsin Idea as our guiding principle, we’re not only changing the 936 acres we call home—Badgers are also creating a better future for Wisconsin, the nation, and the world. Source, University of Wisconsin-Madison
Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a group of neuromuscular disorders that result in the loss of motor neurons and progressive muscle wasting. The severity of symptoms and age of onset varies by the type. Some types are apparent at or before birth while others are not apparent until adulthood. All generally result in worsening muscle weakness associated with muscle twitching. Arm, leg and respiratory muscles are generally affected first. Associated problems may include problems with swallowing, scoliosis, and joint contractures. SMA is a leading genetic cause of death in infants.
Spinal muscular atrophy is due to a genetic defect in the SMN1 gene. They are generally inherited from a person’s parents in an autosomal recessive manner. In 2% of cases, one of the mutations occurs during early development and one is inherited from a parent. The SMN1 gene encodes SMN, a protein necessary for survival of motor neurons. Loss of these neurons prevents the sending of signals between the brain and skeletal muscles. Diagnosis is suspected based on symptoms and confirmed by genetic testing.
Treatments include supportive care such as physical therapy, nutrition support, and mechanical ventilation. The medication nusinersen, which is injected around the spinal cord, slows the progression of the disease and improves muscle function. In 2019, the gene therapy onasemnogene abeparvovec was approved in the US as a treatment for children under 24 months. Outcomes vary by type from a life expectancy of a few months to mild muscle weakness with a normal life expectancy. The condition affects about 1 in 10,000 people at birth. – Spinal muscular atrophy. (2020). Retrieved June 23, 2020, from Wikipedia.
[ad_2]
Source link