Using Genetics to Diagnose Rare Metabolic Diseases | Dr Michael Wanger

Feb 23, 2022 | biology, health and medicine

Original Article Reference

This SciPod is a summary of https://doi.org/10.33548/SCIENTIA745

About this episode

Identifying the cause of an illness in a sick baby or child is not always easy, particularly if the disease is rare. Throughout his career, Dr Michael Wangler, at the Baylor College of Medicine and Jan and Dan Duncan Neurological Research Institute, has investigated rare childhood diseases. Combining his expertise in paediatrics and genetics, Dr Wangler utilises genomics, metabolomics and the humble fruit fly to identify the genes responsible for rare and undiagnosed diseases to improve both diagnosis and treatment.

 

 

 

This work is licensed under a Creative Commons Attribution 4.0 International License. Creative Commons License

What does this mean?

Share: You can copy and redistribute the material in any medium or format

Adapt: You can change, and build upon the material for any purpose, even commercially.

Credit: You must give appropriate credit, provide a link to the license, and indicate if changes were made.

More episodes

Dr. Archana Thakur | A Novel Immunotherapy Approach to Treat Solid Tumors

Dr. Archana Thakur | A Novel Immunotherapy Approach to Treat Solid Tumors

Developing therapies to effectively treat cancerous tumors is challenging, due to the hostility of the tumor microenvironment and the potential to unintentionally damage surrounding tissues. Infusions of immune cells can improve immune function and assist the body in fighting disease, although this approach increases the risk of inducing dangerous inflammatory responses. Dr. Archana Thakur and her colleagues at the Universities of Virginia and Pennsylvania have engineered a pioneering immunotherapy system that precisely targets cancerous cells. This new immunotherapy poses minimal risk of adverse reactions, and can be used against a wide range of tumor types.

Dr Eleanor Wilson | Breath by Breath: Decision-Making in the Final Stages of Motor Neurone Disease

Dr Eleanor Wilson | Breath by Breath: Decision-Making in the Final Stages of Motor Neurone Disease

Motor neurone disease is a currently incurable and progressive neurological disorder that severely impacts muscle function. As the disease progresses, individuals with motor neurone disease experience significant difficulties in movement, speech, swallowing, and breathing. Home mechanical ventilation can be used to support breathing and improve the quality of life. However, while this can alleviate symptoms and extend survival, it does not stop disease progression, and patients and caregivers must confront difficult decisions in their treatment journey. In a new UK study, Dr Eleanor Wilson of the University of Nottingham and colleagues have explored end-of-life decision-making in motor neurone disease patients using home mechanical ventilation.

Dr. Christopher Buck | Expanding Our Knowledge of Viral Evolution

Dr. Christopher Buck | Expanding Our Knowledge of Viral Evolution

Vitamin D has been studied as a treatment for a large number of diseases and conditions, from cancer to autism to COVID-19. However, its mode of action is not completely understood. Professor Ralf Herwig carries out his research at HG Pharma GmbH (Austria) and Ulster University (UK). His vital work explores the role of vitamin D in the body with a view to unlocking its potential as a treatment for a variety of health conditions involving the immune system.

Increase the impact of your research

• Good science communication helps people make informed decisions and motivates them to take appropriate and affirmative action.
• Good science communication encourages everyday people to be scientifically literate so that they can analyse the integrity and legitimacy of information.
• Good science communication encourages people into STEM-related fields of study and employment.
• Good public science communication fosters a community around research that includes both members of the public, policymakers and scientists.
• In a recent survey, 75% of people suggested they would prefer to listen to an interesting story than read it.

Step 1 Upload your science paper

Step 2 SciPod script written

Step 3 Voice audio recorded

Step 4 SciPod published