LYSOCIL CEDOC-NMS I FCM special seminar with João Gonçalves, PhD

April 20, 2022 IN PERSON and ZOOM


Special LYSOCIL CEDOC-NMS I FCM seminar with João Gonçalves,PhD, Research Scientist at Deep Genomics, Toronto, Canada will take place on 20th of April, Wednesday at 2pm (Lisbon time) (-1h rest of Europe) IN PERSON  hosted by Susana Lopes, PhD. It will be also available by zoom.


This seminar will be dedicated to “From basic to pre-clinical research: focus on the ciliopathy genes TTC28 and CEP290”  and it will be IN PERSON at NMS I FCM facilities, Auditorium MMM.


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


Title: “From basic to pre-clinical research: focus on the ciliopathy genes TTC28 and CEP290”


Cilia are microtubule-based organelles that project from the cell surface. Vertebrates present several specialized cilia types that collectively fulfil sensory and motility functions critical for embryonic development and adult tissue homeostasis. Importantly, cilia malfunction causes a multitude of complex diseases known as ciliopathies. Cilia-related disorders are characterized by often overlapping clinical manifestations like abnormal skeletal and brain development, obesity, infertility, and kidney cysts. Despite their clinical relevance, we are still far from understanding several aspects of the basic biology of cilia such as their molecular composition, and mechanisms underlying their assembly, maintenance and multiple functions. Moreover, we are still identifying the genetic causes of ciliopathies and starting to learn the functions of ciliopathy genes.

In this seminar, Dr. João Gonçalves will present the identification of TTC28 as a ciliopathy gene. TTC28 localizes to the centrosome/basal body, interacts with multiple centrosome/cilia-associated proteins, and participates in microtubule-associated processes. He will also present work concerning the use of antisense oligonucleotides as a potential therapeutic approach for the treatment of a ciliopathy caused by mutations in the CEP290 gene.



Rare Disease