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Science Live 2023

You are here: Home / Webinar Recordings / Science Live 2023

Cardiac Care for Duchenne Muscular Dystrophy Carriers

2 February 2024 by Lizzie Cox

Unfortunately, female carriers have not received a lot of focus from the research community in the past. Here, we will discuss the topic of carriers …

Cardiac Care for Duchenne Muscular Dystrophy CarriersRead More

Carriers

2 February 2024 by Lizzie Cox

In this bite-sized video we delve into the topic of carriers - exploring who are carriers, why they 'carry' the Duchenne mutation, and how Duchenne is …

CarriersRead More

Germline Mosaicism

2 February 2024 by Lizzie Cox

Join us as we explore what germline mosaicism is and how these sporadic mutations, also known as chromosome alteration, occur in germline cells (eggs …

Germline MosaicismRead More

X-Linked Recessive Inheritance

2 February 2024 by Lizzie Cox

In this video we will explore the pattern of genetic inheritance referred to as 'X linked recessive' - We will highlight how and why the X chromosome …

X-Linked Recessive InheritanceRead More

Spontaneous Mutations

2 February 2024 by Lizzie Cox

Join us as explore the topic of spontaneous mutations and how these mutations relate to Duchenne muscular dystrophy. We use simple and accessible …

Spontaneous MutationsRead More

What is a Splice Site Variant?

26 January 2024 by Lizzie Cox

Here you will learn how these mutations disrupt gene expression and lead to a range of genetic disorders such as Duchenne muscular dystrophy. …

What is a Splice Site Variant?Read More

Reading Frames

26 January 2024 by Lizzie Cox

Explore the fundamental genetic concept of reading frames in our latest video. Dive into how these frames dictate the translation of DNA into …

Reading FramesRead More

Genetic Mutations in Duchenne Muscular Dystrophy

26 January 2024 by Lizzie Cox

Here we discuss how mutations can occur, and how the genetic mutations in the dystrophin gene leads to Duchenne muscular dystrophy symptoms. …

<strong>Genetic Mutations in Duchenne Muscular Dystrophy</strong>Read More

What are Exons?

26 January 2024 by Lizzie Cox

Learn about what exons are and their crucial role in gene expression and subsequent protein synthesis. …

What are Exons?Read More

When to Get a Muscle Biopsy

15 December 2023 by Lizzie Cox

Muscle biopsies are an uncommon, but sometimes an important diagnostic tool. This video will highlight why muscle biopsies are performed, and when …

When to Get a Muscle BiopsyRead More

Histology Images

15 December 2023 by Lizzie Cox

Learn the need to know information about histology, including how and why this technique is used in clinical assessments. …

Histology ImagesRead More

Genetic Testing & Muscle Biopsy

15 December 2023 by Lizzie Cox

Discover valuable information about muscle biopsies and genetic testing and how these tests are used in diagnosing Duchenne muscular dystrophy …

Genetic Testing & Muscle BiopsyRead More

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