DNA Science
Today, May 6th, is Wishbone Day, to raise awareness about osteogenesis imperfecta (OI).
Also known as “brittle bone disease,” OI is a consequence of mutations that disrupt the highly organized structure of collagen, a major component of connective tissues. Collagen accounts for more than half the protein in bone and cartilage, and is also part of skin, ligaments, tendons, and the dentin of teeth.
Because OI is due to a deficit of collagen, eating more calcium doesn’t help – the advice given to members of a family I wrote about here. Before many genes behind OI were identified, some parents of children with OI were suspected of child abuse, especially when a second child had fractures too.
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Patients with genetic lysosomal storage diseases – particularly children – are living longer because of better treatments. But with promising advances and longer lives comes complications, the loss of eyesight as these rare diseases take their toll over time.
Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies, according to the National Organization for Rare Disorders. With these diseases, patients are missing the mucopolysaccharidosis type 1 (MPS1) gene. Current therapies that allow patients to live longer don’t address corneal clouding caused by these diseases. However, one Carolina-affiliated startup, RainBio, is developing a novel gene therapy for MPSI corneal blindness, giving patients a chance not only for longer lives but better ones.
Patients with genetic lysosomal storage diseases – particularly children – are living longer because of better treatments. But with promising advances and longer lives comes complications, the loss of eyesight as these rare diseases take their toll over time.
Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies, according to the National Organization for Rare Disorders. With these diseases, patients are missing the mucopolysaccharidosis type 1 (MPS1) gene. Current therapies that allow patients to live longer don’t address corneal clouding caused by these diseases. However, one Carolina-affiliated startup, RainBio, is developing a novel gene therapy for MPSI corneal blindness, giving patients a chance not only for longer lives but better ones.
Study Shows Heart Issues Resulting From COVID-19 Not as Prevalent in Athletes as Previously Reported
Fewer than one percent of college athletes who tested positive for COVID-19 developed heart-related problems, according to a recent study published in the American Heart Association’s journal, Circulation, on April 17.
The prospective observational study involved 3,018 COVID-positive athletes from 42 colleges or universities across 26 sports. Data on the “prevalence, clinical characteristics, and outcomes of SARS-CoV-2 cardiac involvement” were collected from Sept. 1, 2020 to Dec. 21, 2020.
Most of the athletes (2,820) received at least one of the three screening protocols that consist of an electrocardiogram, an echocardiogram (ultrasound), or a blood test for troponin protein, followed by a cardiac MRI (magnetic resonance imaging) if “clinically indicated.” The rest of the 198 athletes underwent only a cardiac MRI.