February 11th marks the ninth annual International Day of Women and Girls in Science, which serves as an opportunity to recognize the achievements of women working in science, technology, engineering, and mathematics. To celebrate, we are shining a spotlight on Annie Collins, one of our 2023 Milton Safenowitz Postdoctoral Fellows, and how she is helping move the development of new ALS treatments forward.
The FDA announced it has granted accelerated approval to tofersen, a treatment for people living with mutations of the SOD1 gene. This is a significant victory for the ALS community and our efforts to make ALS livable for everyone, everywhere, until we can cure it.
The ALS Association commends the FDA for approving tofersen under the agency’s accelerated approval pathway for the treatment of people living with ALS connected to mutations in the SOD1 gene. This marks the first time the FDA has approved a treatment for ALS under accelerated approval and serves as a promising endorsement of the antisense technology that underlies tofersen.
With the emergence of gene-targeted therapies, knowing whether your ALS has an underlying genetic cause is becoming more important. Research has shown that about two-thirds of people with familial ALS and about 10% of people with sporadic ALS (no family history) have a mutation (or change) in at least one of the more than 40 genes that have been linked to the disease.
When I was about 8 years old, I asked my mother about my grandmother, and she shared her mom died when she was 10 years old from “paralysis.” What my mother never knew was that I was afraid when I turned 10 years old, she would die of “paralysis,” just like her mom. Little did I know a mere 10 years later that fear would come true. And that is the beginning of my journey in life with the beast known as ALS.
In most cases, a person with a mutation in an ALS-linked gene usually has a 50-50 chance of passing it on to their children. But just because someone inherits an ALS-linked gene, it does not automatically mean they will develop the disease, and family members who develop ALS may have different disease experiences.
The fight for the Genetic Testing Protection Act in Maryland continued Thursday with ALS Association leaders pressing the state’s House of Delegates to advance the policy. The bill would prohibit companies that offer life insurance and disability insurance in that state from using the results of genetic testing to deny coverage or engage in price discrimination. Similar bills have been proposed in New York, Illinois and Tennessee.
ALS Association leaders and people living with ALS urged Maryland senators to advance legislation that would prohibit companies that offer life and disability insurance from using the results of genetic testing to deny coverage or influence pricing decisions. John Knowles, a caregiver for his wife, Teri, testified about the impact familial ALS has had on his family. Teri’s twin sister died in 2013, and another sister died in 2020 after living with ALS. John talked about the need for genetic testing for family members and the fear that the results could be used against them.
ALS Association leaders and advocates from the ALS community will press lawmakers in Maryland to pass legislation that would prevent insurance companies from using genetic testing information to deny coverage or influence price considerations.
Maryland lawmakers are considering a bill spearheaded by The ALS Association that would prohibit life insurance, long-term care insurance, and disability insurance policies from discriminating against people based on the results of a genetic test.