When we talk about ALS, we often make a distinction between types of the disease: 90% of cases appear to be sporadic – meaning there is no family history of the disease. The opposite is true of the other 10% – known as familial ALS or genetic ALS. In these cases, the disease can sometimes be traced back in a family for generations. 

Behind this phenomenon are a number of inherited mutations in genes with names like SOD1, FUS, C9orf72. With the advent of widely available genetic testing, people with a family history of ALS are now able to find out if they carry these mutations – and are thus likely to develop the disease.

When Jean Swidler was a child, she lost her grandmother to ALS. Then as, an adult, her mother was diagnosed with the disease. Eventually, Jean herself underwent genetic testing and discovered that she carries the C9orf72 repeat-expansion mutation. 

Since then, Jean has become a tireless advocate for asymptomatic carriers of ALS-related genetic mutations. Today, she joins us to talk about her story, her advocacy, and how she believes the medical and research establishment could be better serving people in her situation. 

When we talk about ALS, we often make a distinction between types of the disease: 90% of cases appear to be sporadic – meaning there is no family history of the disease. The opposite is true of the other 10% – known as familial ALS or genetic ALS. In these cases, the disease can sometimes be traced back in a family for generations. 
Behind this phenomenon are a number of inherited mutations in genes with names like SOD1, FUS, C9orf72. With the advent of widely available genetic testing, people with a family history of ALS are now able to find out if they carry these mutations – and are thus likely to develop the disease.
When Jean Swidler was a child, she lost her grandmother to ALS. Then as, an adult, her mother was diagnosed with the disease. Eventually, Jean herself underwent genetic testing and discovered that she carries the C9orf72 repeat-expansion mutation. 
Since then, Jean has become a tireless advocate for asymptomatic carriers of ALS-related genetic mutations. Today, she joins us to talk about her story, her advocacy, and how she believes the medical and research establishment could be better serving people in her situation.

The Endpoints Podcast features guests from the ALS community, including people living with ALS, researchers, advocates and fundraisers. Each episode cuts to the chase with short, digestible conversations about the latest research at ALS TDI and the most closely watched ALS clinical trials as well as stories from people living with ALS with their thoughts on research, healthcare and their journey with ALS.

The Endpoints Podcast is hosted by the ALS Therapy Development Institute (ALS TDI) the world's foremost drug discovery lab focused solely on ALS. ALS TDI is a non-profit biotech with one mission. End ALS.

To access all episodes of the Endpoints Podcast, visit als.net/endpoints.

The <a href="https://www.als.net/endpoints/">Endpoints Podcast</a> features guests from the ALS community, including people living with ALS, researchers, advocates and fundraisers. Each episode cuts to the chase with short, digestible conversations about the latest research at ALS TDI and the most closely watched ALS clinical trials as well as stories from people living with ALS with their thoughts on research, healthcare and their journey with ALS.
The Endpoints Podcast is hosted by the <a href="https://www.als.net">ALS Therapy Development Institute (ALS TDI)</a>&nbsp;the world's foremost drug discovery lab&nbsp;focused solely on ALS. ALS TDI is a non-profit biotech with one mission. End ALS.
To access all episodes of the Endpoints Podcast, visit als.net/endpoints.

Endpoints

The Endpoints Podcast features guests from the ALS community, including people living with ALS, researchers, advocates and fundraisers. Each episode cuts to the chase with short, digestible conversations about the latest research at ALS TDI and the most closely watched ALS clinical trials as well as stories from people living with ALS with their thoughts on research, healthcare and their journey with ALS.

The Endpoints Podcast is hosted by the ALS Therapy Development, the largest drug discover center focused solely on ALS. Visit our website and register to access all Endpoints Podcast episodes.

The Endpoints Podcast features guests from the ALS community, including people living with ALS, researchers, advocates and fundraisers. Each episode cuts to the chase with short, digestible conversations about the latest research at ALS TDI and the most closely watched ALS clinical trials as well as stories from people living with ALS with their thoughts on research, healthcare and their journey with ALS.
The Endpoints Podcast is hosted by the <a href="https://www.als.net">ALS Therapy Development</a>, the largest drug discover center focused solely on ALS. Visit our website and register to <a href="https://www.als.net/endpoints/">access all Endpoints Podcast episodes.</a>