Rare Diseases Day 2022

February 28, 2022


Today we celebrate the World Rare Disease Day, created by EURORDIS – Rare Diseases Europe in 2008, which aims to raise awareness among the public and policy makers of rare diseases and their impact on the lives of patients, families and caregivers.


We highlight the work developed within the scope of the European Twinning project “LYSOCIL: promoting research in rare diseases with a special focus on lysosomal diseases and ciliopathies”, led by Duarte Barral and Susana Lopes, principal investigators at the Center for the Study of Chronic Diseases (CEDOC), in partnership with the University of Münster (WWU) and the Telethon Institute of Genetics and Medicine (TIGEM). 


In the course of the project, the CEDOC-NMS researchers have worked to increase interdisciplinarity in research and training in the field of Rare Diseases and to expand collaboration networks, enhancing research excellence among the partners involved.


To mark the date, we showcase some actions that were developed involving the various stakeholders: clinicians, patients and families, patient associations and researchers - scientific workshops, exchanges and outreach activities.


As an examples of the bridges built with society and particularly with families who live daily with the challenge posed by Rare Diseases is the connection developed with various patient associations.


Recently, NMS signed a protocol with Associação Raríssimas of which Susana Lopes and Duarte Barral will be part of the Scientific Council, to establish the bases for scientific and pedagogical cooperation between both institutions. At the same time, researcher Duarte Barral was invited to be part of the Scientific Council of RD Portugal - Union of Rare Diseases Associations of Portugal, in addition to integrating since 2021 the Scientific Council of Associação Sanfilippo Portugal.


Moreover, there is now a Ciliary Function Evaluation Service at NMS. This is the only service in the country to provide the diagnosis of Primary Ciliary Dyskinesia, a Rare Disease that affects about 1 in 10,000 people worldwide.


As in previous years, we joined the global movement and also the NMS and the CEDOC-NMS Research Campus “wear” the colours of this cause.


Join us on raising the awareness of rare diseases.

Know more at: https://www.nms.unl.pt/en-us/nms/news-and-events/events/detalhe/eventid/6129





LYSOCIL CEDOC-NMS I FCM special seminar with Professor Claire Mitchell

February 23, 2022 @Zoom


Special LYSOCIL CEDOC-NMS|FCM seminar with Professor Claire H Mitchell, Dept. Basic and Translational Science at University of Pennsylvania, USA, will take place on February 23rd at 12pm (Lisbon time) via zoom. This seminar will be dedicated to “ Lysosomal signaling via luminal Ca2+, pH and ATP; consequences of age-dependent neurodegenerations and approaches for repair”.

Please request the link to: manage.lysocil@nms.unl.pt


Title: “Lysosomal signaling via luminal Ca2+, pH and ATP; consequences of age-dependent neurodegenerations and approaches for repair”


Abstract: Lysosomes were originally known for their ability to degrade cellular waste, but recent discoveries indicate they provide a central hub for cell signaling. High levels of hydrogen ions make the lysosomal lumen sufficiently acidic for activities of pH-sensitive degradative enzymes. However, lysosomes are also major cellular stores of ATP and calcium. Efflux of lysosomal ATP can be triggered by inflammatory toll like receptor signaling, and is sensitive to small RNA fragments. The efflux of lysosomal calcium through the TRPML1 channel induces lysosomal efflux and coordinates lysosomal biogenesis and autophagy via transcription factor TFEB. Lysosomal pH is elevated in models of several neurodegenerative diseases, including Alzheimer’s and age-dependent macular degeneration. The resulting accumulation of partially degraded lipid waste material may itself provide a secondary force to inhibit lysosomal Ca2+ signaling. Pharmacological and nanoparticle approaches to restore lysosomal pH and enhance degradation may help break the cycle of accumulation in age-dependent degenerations.



LYSOCIL CEDOC-NMS I FCM special seminar with Professor Rick Kahn

February 16, 2022 @Zoom


Special LYSOCIL CEDOC-NMS|FCM seminar with Professor Rick Kahn, Department of Biochemistry at Emory University School of Medicine, Atlanta, USA, will take place on February 16th, 2022 at 2 pm (Lisbon time) via zoom. This seminar will be dedicated to “Cell Regulation by ARF Family GTPases with Recent Focus on Cilia”.

Please request the link to: manage.lysocil@nms.unl.pt


Title: “Cell Regulation by ARF Family GTPases with Recent Focus on Cilia”


Abstract: The ARF family of regulatory (aka Small) GTPases is ancient, with fully 16 members present in the last eukaryotic ancestor (LECA) and 30 members present in mammals. The ARF family is comprised of both the canonical ARFs (ARF1-6 in mammals that share >65% identity) and 22 ARF-like (ARL) proteins that share typically greater than 40% identity to other ARLs and ARFs. Like all regulatory GTPases, ARF family GTPases are regulated by GEFs that activate them and GAPs that both terminate their signal but also propagate signaling downstream. Because the known ARF GAPs were found to act on ARFs but not ARLs, we purified and identified a novel family of ARF family GAPs, the ELMODs (ELMOD1-3 in mammals) that act on both ARLs and ARFs. While the ARFs are well known for roles in membrane traffic, my lab has been focused in the last few years on roles of the lesser studied family members (such as ARL16) as well as roles of the ELMODs. Results have consistently led us to focus on their roles in/at cilia, with links to membrane traffic and cell division. We are currently working on connecting a number of loose threads to learn how the different ciliary ARLs (ARL3, ARL6, ARL13B, ARL16) and ELMODs act together in a “GTPase cascade”.



Rare Disease