Adrenoleukosdystrophy (ALD) is a X-linked genetic defect that manifests itself in males usually between 4 and 10 years of age. ALD causes irreparable damage to the myelin sheath surrounding nerve cells of the brain and affects the release of the enzyme to break down fatty acids in the body. This leads to an accumulation of long chain fatty acids in the brain and adrenal cortex, which can have lead to serious health problems as the disease progresses. Most commonly the symptoms begin with behavioral changes and eventually include visual loss, poorly articulated speech, deafness, disturbance of gait, and seizures. ALD patients may be treated with adrenal hormones or more commonly with a mixture of oleic acid and erucic acid (extracted from rapeseed oil and olive oil known as Lorenzo’s oil. Lorenzo’s oil has shown strong evidence that it can reduce or delay the appearance of symptoms.

Recently, a group of UBRP students had the opportunity to view the 1992 film, “Lorenzo’s Oil” that portrays the true story of Lorenzo Odone and his parents’ struggle against ALD. Determined not to accept the doctor’s prognosis of their son’s death within two years, the Odones set out to find a cure for their son’s disease. The Odones were the creators of Lorenzo’s oil, which helped keep Lorenzo alive well passed the life expectancy for a child diagnosed with ALD; Lorenzo is now 26 years old. Although Lorenzo’s oil has helped many children around the world control the onset of symptoms, it cannot stop the damage that has already occurred to the myelin sheath. In order to do this, the Odones founded The Myelin Project, which aims to encourage doctors to repair the myelin damage through clinically oriented experiments mostly through the use of stem cells. Demyelinating diseases, such as the leukodystrophies and sclerosis, affect more than two million people worldwide (see www.myelin.org for more information).

After viewing the film, Dr. Robert Erickson, a pediatric geneticist and UBRP faculty sponsor, led the group in a discussion of the film and about his work with other rare genetic disorders. Everyone was eager to know Dr. Erickson’s views on possible cures for diseases such as ALD, especially related to gene therapy. While gene therapy has not been successful yet, there are still many areas of research with the possibility to treat all types of genetic disorders.

Christine Poach, UBRPer in Dr. Jorge Giron’s lab, Biochemistry & Microbiology and Immunology