According to the World Health Organization (WHO), more than 3 million people in Spain (a country of 46 million inhabitants) suffer from a rare disease. A disease is considered rare when it appears in less than 1 inhabitant in 2000. The low incidence of each of these diseases has resulted in an almost complete lack of funding for research, diagnosis and treatment of these conditions, which have been pushed into the background by the healthcare sector. There are nonetheless about 7000 rare diseases; their individual incidence is very low, but overall they affect 7% of the world population.
In addition, the relatives of patients must be considered affected, since the disabilities associated with these diseases often imply the need for constant care. February 29 was the day for all of them.
Lluis Montoliu, a scientist at the CNB, forms part of the Biomedical Research Networking Centre on Rare Diseases (CIBERER). This platform seeks to foster collaboration among Spanish groups that study rare conditions to promote research and deepen knowledge.
Albinism, a rare condition where pigment isn’t everything
Montoliu’s group works to improve diagnostic methods and therapy for albinism. "This disease can be caused by mutations in 18 different genes, which complicates diagnosis,” explains Montoliu. “In collaboration with other CIBERER groups, we have developed a method that uses a single saliva sample to detect which of these 18 genes has the mutation. This system has greatly reduced costs, which led the National Health System, through the Xunta de Galicia and CIBERER, to begin to finance the diagnosis of these patients," says the researcher.
Albinism affects one of every 17,000 inhabitants, and is characterized by scanty pigmentation. This is not its most problematic feature, however, as albinos suffer from serious vision problems. They have very poor visual resolution and depth perception, that is, they see in two dimensions.
Study rare diseases to find personalized therapies
The Montoliu laboratory found that these visual problems are not due to lack of melanin (the pigment that gives color to the skin), but of L-DOPA (a metabolite that participates in the metabolic pathways of melanin and dopamine synthesis and is traditionally used to treat patients with Parkinson’s disease).
"We found that when we induce an increase in L-DOPA in the retina of albino mice, their visual acuity improves," says Montoliu. Thanks to this discovery, L-DOPA is already being tested in clinical trials in the United States to improve patient vision.
A patient’s avatar
To test new treatments for this disease, Montoliu’s laboratory also develops mice that mimic the specific mutation of a patient with albinism, using the new CRISPR tools. "We call them avatar mice, which mimic a particular patient’s exact condition. In this way, we can move forward from studying the disease in general to a specific case with a first and last name".
"February 29 is a rare day, which is why it this date was chosen to promote understanding and raise public awareness of these diseases. They affect many people; we can not forget them. We must continue our efforts to better understand each of their conditions and find treatments that will improve their quality of life," concludes Montoliu.