Rare Diseases Day



28th February 2021 was the Rare Disease’s (RDs) Day. RDs represent a big challenge for biomedical research, health care and society in general, given their high diversity and low numbers/scattered distribution of patients. Even though the incidence of each RD is not higher than 1 in 2,000 newborns, there are around 7,000 RDs that affect 30 million people in Europe alone. In Portugal, it is estimated that 600-800,000 people suffer from RDs. It is through research that we will be able to find the answers to the questions of the patients with RDs, their families and the clinicians who follow them. As such, several LYSOCIL CEDOC-NMS I FCM researchers are contributing to the development of new diagnostic methods for RDs and creating a network that focuses on the research of groups of RDs that share causes and treatments. By investigating the molecular mechanisms of cells and their organelles, these teams will be able to better understand the causes of RDs, such as lysosomal disorders and ciliopathies. This knowledge will be essential to pave the way for the development of new treatments for these diseases.

 

Duarte Barral’s team


Skin color is determined by melanin, a pigment that protects us from the harmful effects of ultraviolet (UV) radiation. There are several RDs that affect skin color, including syndromes that involve albinism or hypopigmentation. The lack of pigmentation exposes affected individuals to a higher incidence of skin cancers and other cellular damage caused by UV radiation, in addition to the social stigma that this represents, especially in African countries. Duarte Barral and Miguel Sabra’s teams developed in collaboration a skin model, reconstructed from human cells, which allows recreating in laboratory the skin pigmentation deficiencies associated with Griscelli syndrome. Through this model, these scientists are studying the mechanisms that lead to skin pigmentation deficiencies and can also test new therapies for the RDs that involve them.



Susana Lopes’s team


Susana Lopes´s team studies the genetic origin of RDs, including Primary Ciliary Dyskinesia (PCD), which causes breathing difficulties, infertility and mislocalization of the heart, liver, pancreas and lungs. This disease is being studied in the zebrafish animal model, where therapies are being developed to recover the motility of the cellular structure responsible for all these manifestations - an organelle called cilium. By recovering the correct function of the cilium, it becomes possible to avoid respiratory diseases or improve symptoms, bringing a better quality of life to patients, most of them children.

Susana Lopes's team managed to generate fish that mimic the human PCD disease and recover the motility of the cilia, leading the fish cells to recover previously lost functions. This preclinical study, in collaboration with the German company Ethris, is extremely important to pave the way for the development of new treatments for these diseases based on messenger RNA.

 

Miguel Seabra´s team

Hereditary retinal diseases, called retinopathies, affect approximately 1 in 2,000 people worldwide and, for the most part, have no cure yet. Choroideremia is one of these diseases, associated with the chromosome X. This degenerative disease of the retina affects mainly men and the first symptoms appear from the age of 20, progressing to complete loss of vision around 40-50 years of age. Miguel Seabra's team was a pioneer in the discovery of a curative gene therapy for the disease, one of the first in the world in this area that opened doors for the treatment of other vision diseases. However, this therapeutic strategy is not applicable to everyone. So far the causes that lead to retinal cell death in this disease remain unknown. These scientists are currently investigating the importance of a cell death pathway that has been shown to be very important in this disease. Understanding the molecular mechanisms that result in the activation of cell death in patients with Choroideremia will be essential for the development of new therapies.



LIG session dedicated to “The impact of BIN1 mutants on Alzheimer's Disease cellular pathology”



On 26th February 2021 it was held a LIG session (via Zoom) with the title "The impact of BIN1 mutants on Alzheimer's Disease cellular pathology" presented by Catarina Perdigão, PhD student at Cláudia Almeida´s laboratory (CEDOC-NMS I FCM).



LYSOCIL CEDOC-NMS I FCM special seminar with Christopher Westlake

February 24, 2021 @Zoom


On 24th February 2021, the LYSOCIL project promoted a special LYSOCIL CEDOC-NMS I FCM seminar with Christopher Westlake from the National Cancer Institute (USA). This seminar was dedicated to “Organizing membranes associated with the primary cilium” and it was organized through Zoom.



LIG session dedicated to “Lysosome turnover in the retinal pigment epithelium in health, ageing and age-related macular degeneration”



On 12th February 2021 it was held a LIG session (via Zoom) with the title "Lysosome turnover in the retinal pigment epithelium in health, ageing and age-related macular degeneration" presented by Michael Hall, Postdoctoral researcher at Duarte Barral´s laboratory (CEDOC-NMS I FCM).



Rare Disease