Advancing ALS genetics through accessible testing

Interviewer: Today, we're joined by Teresa Fecteau, medical director at Biogen to discuss her recent paper exploring insights from a genetic testing program designed for individuals diagnosed with ALS or those with a family history of the condition. To kick things off, Teresa, can you tell us a bit about what is currently known about the genetics of ALS? Dr. Fecteau: Thank you, and it's a pleasure to be here speaking on this topic. Just for the folks who may be listening that don't have as much of a background in amyotrophic lateral sclerosis or ALS. This is also known as Lou Gehrig's disease as its often referred to in the US, and we know it's a rare, relentlessly progressive and very uniformly fatal neurodegenerative disease. Right now, based on the current epidemiology, we know it affects about 352000 people across the globe. It's caused by damage to the motor neurons and their axons that impacts our ability to perform essential motor functions like moving, speaking, swallowing, and breathing. Death is typically quite rapid within about 2-5 years after diagnosis and that's most often secondary to respiratory complications. There are a lot of different risk factors that have been linked to ALS, including genetics. But for just a little bit of additional background, we do know that ALS, based on what we know now, tends to occur more often in older individuals, as well as more in men than women, and our US military veterans are particularly at risk experiencing ALS about 2-3 times as likely as the general population. There are also environmental exposures like toxic chemicals or head injuries that can potentially