Tag: genetic disease
The heart of the matter: Elamipretide in the treatment of Barth syndrome
Barth syndrome (BTHS) is an ultra-rare but debilitating genetic disease affecting cell mitochondria. High infant mortality due to cardiac complications and a weakened immune system significantly decrease life expectancy. Current medications treat symptoms but not the cause, leaving an unmet clinical need to develop effective treatments that target the underlying pathology. Dr Hani N Sabbah, Professor of Medicine at Wayne […]
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Cilia, asymmetry, and genetic disease
The length and movement of motile cilia – microscopic hair-like organelles on the outside of our cells – have a remarkable effect on the asymmetric development of embryos, allowing organs to grow in the correct places in our bodies. Dr Susana Lopes and her team at the LYSOCIL project are investigating rare genetic diseases affecting the cilia, and how these […]
Stem cells could offer hope for muscular dystrophy
Muscular dystrophies are genetic conditions that cause muscles to become progressively weaker. Researchers are investigating several novel approaches, including gene and stem cell therapy, to meet the challenges of these serious illnesses. Recently, Dr Yoshitsugu Aoki of the National Center of Neurology and Psychiatry, Tokyo and colleagues have drawn on research from around the world to create a picture of […]
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The genomics of cancer
Many cancers are associated with changes to our genetic material, DNA. These may be small, single unit substitutions, large rearrangements such as deletions or duplications of a part of the DNA sequence, or various other forms of mutations. Although the smaller substitutions have been more intensively studied, Dr Lixing Yang, of the University of Chicago, focuses on uncovering changes at […]