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SCAsource Snapshot

Snapshot: What are somatic expansions?

In a nutshell: somatic expansions are expansions of repeat DNA sequences that accumulate in cells over an individual’s lifetime. A special kind of mutation: repeat expansion mutations Some genes naturally contain repeat sequences in the DNA. For the most part, these DNA repeats are relatively short and do not cause Read More…

Snapshot: What are adeno-associated viruses (AAV)?

Written by Paige Blair Edited by Larissa Nitschke & Celeste Suart What are adeno-associated viruses? Adeno-associated viruses, also known as AAV, are a type of virus that infects humans without causing a serious disease response. These viruses possess the unique ability to deliver DNA to specific cells in living organisms. Read More…

Decorative digital drawing of the brain

Snapshot: What is the pons?

Brainstem – the part that connects and acts as a communicator between our brain and our spinal cord. The brainstem itself is composed of midbrain, pons, and medulla oblangata. Even minor injuries or disruptions to this neural communication and this region can have devastating consequences. The pons is a horseshoe-shaped Read More…

Snapshot: What is the grip strength test?

Many daily tasks, such as writing or buttoning a shirt, require fine motor skills. One aspect of fine motor skills is muscle strength. In order to write, for example, you need to grip the pencil with the appropriate amount of force. Ataxia can involve a loss of control over fine Read More…

Snapshot: O que é um oligonucleotídeo antisenso (ASO/AON)?

Oligonucleotídeos antisenso (em inglês “antisense oligonucleotides” – ASOs ou AONs) são pequenas moléculas que podem ser usadas para prevenir ou alterar a produção de proteínas. As proteínas são os “trabalhadores” da célula e coordenam a maior parte dos processos celulares. A formação de proteínas geralmente consiste em duas etapas: primeiro, Read More…

Snapshot: What is Immunofluorescence?

Immunofluorescence is a common laboratory technique used to see proteins in a sample through microscopy. It relies on attaching a fluorophore, a chemical compound that can release light of a certain colour, to an antibody that can recognize a specific protein of interest. Immunofluorescence is an important tool for studying Read More…

Spotlight: The Shakkottai Laboratory

Principal Investigator: Vikram Shakkottai, MD, PhD Location: UT Southwestern Medical Center, Dallas, TX, USA Year Founded: 2010 What disease areas do you research? SCA1 SCA2 SCA3 SCA6 SCA7 What models and techniques do you use? Mouse Models Microscopy Patch-clamp electrophysiology In vivo electrophysiology Next-generation sequencing approaches (RNA-seq) Research Focus What is your Read More…

Snapshot: What is DNA Sequencing?

Most things about you are written in your genes: from the colour of your eyes, whether you are lactose intolerant, to if you have a higher chance of getting certain diseases. You may have heard of the popular ancestry DNA testing service that tells if you are part Chinese, part Read More…

Snapshot: O que é terapia genética?

Terapia genética significa utilizar ácidos nucleicos para tratar uma desordem genética. Esses ácidos nucleicos podem ser desenhados em uma variedade de formas para alcançar um mesmo propósito terapêutico. Ferramentas de terapia genética podem ser utilizadas para corrigir um gene mutante através de uma das três formas: Expressão de uma cópia saudável Read More…

¿Qué es el nistagmus?

El nistagmus, también conocido como ataxia ocular, es un término que se refiere al movimiento incontrolable del ojo, generalmente un ciclo repetitivo de movimiento lento en una dirección específica seguido de un ajuste rápido de regreso al centro. La raíz de este movimiento reside en un reflejo normal que usamos Read More…

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