A scientist who watched his mother and two sisters die from a devastating genetic disease is betting his life on experimental gene therapy, and after three years, he’s still beating the odds that killed his family.
Story Snapshot
- Jeff Vierstra carries a rare FUS gene mutation that caused aggressive ALS, killing his mother in nine months and claiming both his sisters despite treatment
- He began receiving experimental spinal infusions in 2020 before symptoms appeared, becoming the first known presymptomatic ALS prevention attempt
- After three years of treatment with Ulefnersen, his muscle abnormalities normalized, and he remains symptom-free at age 41
- Columbia University researchers published results from 12 patients in May 2025, showing the gene-silencing drug reduces toxic protein buildup
- The approach could transform a fatal diagnosis into a manageable condition for families carrying ALS mutations
The Family Curse That Spans Generations
Genealogical records dating to the late 1800s reveal a haunting pattern in Jeff Vierstra’s family tree. Relatives died mysteriously in their 30s and 40s across multiple generations. The curse had a name by the 1980s: amyotrophic lateral sclerosis, the brutal disease that destroys motor neurons and typically kills within two to five years.
Vierstra’s mother succumbed nine months after her first symptoms when he was just two years old. Her three siblings followed the same path, all dying from ALS in their late 30s or early 40s.
Racing Against a Genetic Time Bomb
Testing revealed the culprit: a mutation in the FUS gene, causing an especially aggressive form of familial ALS that strikes roughly one percent of all familial cases. The FUS gene encodes a critical RNA-binding protein for nerve cells, but when mutated, it produces toxic protein aggregates that accumulate in the brain and spinal cord.
Vierstra and his sisters Erin and Leigh all tested positive for the mutation, effectively receiving death sentences timed to their late 30s. The question wasn’t if ALS would strike, but when.
A Chance Encounter Opens the Door to Hope
Fate intervened at a 2019 ALS conference in Barbados. Vierstra met researchers from Columbia University’s Eleanor and Lou Gehrig ALS Center who were developing ulefnersen, an antisense oligonucleotide created by Ionis Pharmaceuticals.
Dr. Neil Shneider had already demonstrated in mouse studies that silencing the FUS gene could delay neuron damage. The FDA approved expanded access after an autopsy of the first human patient confirmed the drug reduced toxic FUS protein in the brain without serious side effects, even though that patient died within a year.
Two Sisters Enter the Trial, One Brother Follows
By summer 2020, Erin and Leigh had developed early symptoms and enrolled in the expanded access program, receiving spinal infusions of the experimental drug. Vierstra faced a choice: wait for symptoms or join them presymptomatically. An electromyography test revealed muscle abnormalities he couldn’t feel yet, early warning signs of motor neuron damage.
He became the first person to receive the treatment before ALS symptoms appeared, entering uncharted medical territory. His sisters continued treatment for three to four years, extending their lives beyond typical ALS trajectories before Erin died from disease progression and Leigh from an unrelated head injury.
The Treatment That Rewrote One Man’s Future
Vierstra’s outcome diverged sharply from his sisters’ paths. After one year of regular spinal infusions, his electromyography readings normalized. The muscle abnormalities vanished. Three years later, at 41, he remains completely symptom-free, actively working as a scientist and pursuing adventures like skiing and international travel.
He’s already outlived the age when his mother and aunts died. Dr. Shneider describes the presymptomatic intervention as a “very big deal,” offering real hope that ALS could become a liveable disease rather than a death sentence. Vierstra says the treatment has given him a “lease on life” and the ability to plan a future he never thought possible.
What the Science Reveals About Prevention
The May 2025 publication of results from the first 12 patients marks a milestone in genetic ALS research. The drug successfully silenced the FUS gene in humans just as it did in mice, reducing the toxic protein buildup that kills motor neurons.
Columbia’s Silence ALS initiative is now expanding to other genetic ALS subtypes, pursuing personalized gene therapies for families carrying different mutations. While only five to ten percent of ALS cases are familial, insights from these genetic forms could eventually inform treatments for the 90 percent of cases that appear sporadically.
The difference between Vierstra’s success and his sisters’ struggles underscores a critical principle: starting treatment before symptoms emerge may be essential for prevention rather than merely slowing progression.
Scientist whose mother and sisters died of ALS complications hopes experimental treatment will save his life https://t.co/9PQCDmuZYL
— CBS News (@CBSNews) April 5, 2026
The research validates a broader concept in rare disease treatment. Expanded access programs, which allow desperately ill patients to try experimental drugs before formal approval, can generate invaluable data while offering hope to those with no other options.
Ionis Pharmaceuticals continues sponsoring the trial, working toward full FDA approval. For families haunted by hereditary ALS, the prospect of testing for mutations and intervening before damage occurs represents a fundamental shift from helpless waiting to proactive prevention.
Columbia’s ALS Center is actively seeking participants for trials targeting other genetic variants, expanding the pool of families who might escape inherited death sentences.
Sources:
Jeff’s Story: Defying a Family History of ALS Through a New Drug Trial – Columbia Doctors
The FUS Involved in ALS – UTMB Health
