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Ataxia

Snapshot: What is a Meta-Analysis?

Meta-analysis refers to a research process. You might think of it as a ‘Cliff’s Notes’ summary that compiles, evaluates, and synthesizes all of the individual research reports that were completed by the others. Using statistics, a meta-analysis synthesizes the findings of multiple similar scientific studies to produce an overall result. Read More…

Um esforço contínuo em direção ao tratamento da SCA3

Escrito por Dr. Jorge Diogo Da Silva Editado por Dr. David Bushart Traduzido para o português por Priscila Pereira Sena Como um grupo de pesquisa avaliou se a Rivastigmina, uma droga usada no tratamento da doença de Parkinson, pode exercer um papel no tratamento da SCA3 Ataxia Espinocerebelar do tipo Read More…

Spinocerebellar Ataxia Type 8: Lifetime risk and repeat interruptions

Written by Dr. Hannah K ShorrockEdited by Dr. Larissa Nitschke Differences in the lifetime risk of developing SCA8 are associated with the presence of interruptions in the ATXN8 repeat expansion. In most spinocerebellar ataxias caused by repeat expansions, everyone who carries a repeat expansion above a certain threshold will develop Read More…

Snapshot: What is the Cerebral Cortex?

The cortex has many folds, just like how an origami flower has many folds. This helps increase the brain surface area by tightly packing in neurons. “Origami Lotus Flowers” by Dominic’s pics is licensed under CC BY 2.0. The cerebral cortex, also called “the cortex,” is a highly organized layer of tissue that Read More…

¿Qué es la Escala Internacional Cooperativa de la Ataxia?

Escrito por Cristina (Yi) Peng Editado por la Dra. Hayley McLoughlin Traducción: Dra. Frida Loria La Escala Internacional Cooperativa de la Ataxia (del inglés International Cooperative Ataxia Rating Scale, ICARS) es una escala que se utiliza para evaluar el grado de discapacidad en pacientes con ataxia cerebelosa. Fue desarrollada en Read More…

Snapshot: What is Drosophila melanogaster?

Drosophila melanogaster is the scientific name of the common fruit fly. Yes, the ones flying around your green bin on a hot summer day. You may be surprised to learn that it is a commonly used model organism in biomedical research and has made significant contributions to many fields of Read More…

Desenvolvendo um interruptor liga/desliga para terapia gênica

Escrito por Dr Hannah K Shorrock Editado por Dr Larissa Nitschke Traduzido por Ana Carolina Martins Composto modificadores de “splicing” podem regular se a terapia gênica está ou não ativa A terapia gênica é uma estratégia terapêutica incrivelmente versátil que pode ser usada para tratar doenças monogênicas. A terapia gênica Read More…

Spotlight: The Lim Laboratory

Picture of the Lim lab taken in May 2022. Left to right: Chris Lee, Benjamin Sanders, Kimberly Luttik, Dr. Janghoo Lim, Dr. Neha Gogia, Luhan Ni, Ashley Owens, Victor Olmos Principal Investigator: Janghoo Lim, PhD Location: Yale University, New Haven, CT, USA Year Founded: 2010 What disease areas do you Read More…

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