Racing the Clock: When the Genetic Carrier Seeks to Become the Architect of the Cure

In rare disease, urgency is often discussed in abstract terms — pipeline acceleration, regulatory timelines, translational gaps. But for some, urgency has a date attached to it.

Yentli E. Soto Albrecht, PhD, is an MD-PhD student at the University of Pennsylvania whose life and work converged in August 2024 when her father — a 42-year educator in Lancaster, Pennsylvania — died from rapidly progressive ALS caused by the C9orf72 genetic mutation. He died fourteen months from his first symptom. She carries the same mutation and is determined not to let it take her the same way.

After pivoting from infectious disease research to neurodegeneration following her father's death, Dr. Soto Albrecht built an eleven-project collaborative research portfolio spanning seven countries and twelve laboratories within a year. She is now co-launching the program CureC9 within EverythingALS.

A discussion with Yentli Soto Albrecht about what it means to operate at the intersection of lived risk, translational science, and clinical training.

1. You often refer to your "triple perspective" — genetic carrier (patient), scientist, and physician-in-training. How does that change the way you approach research?

It changes the timeline.

I have a 50% chance of fatal disease by 55 and 95% by 65. I've likely lived over half my life already. When those are your numbers, "someday" stops being a planning horizon. It becomes a deadline.

My father and I had a language for the things we couldn't say out loud. Four squeezes of the hand meant “do you love me”. Three meant “yes I do”. Two meant “how much?” One long squeeze — as long as you could hold—means “that much (I love you)”. When ALS took his voice, it took his ability to squeeze, too. I held his hand knowing that the same mutation is rewriting my body, cell by cell, in ways I can't yet feel.

So I ask different questions. Not just how to treat disease after collapse, but how to detect it before symptoms start, how to predict which disease will manifest — ALS or frontotemporal dementia (FTD), my genetic mutation being the most common familial cause of both — and how to prevent both. The field hasn't prioritized those questions with urgency because most researchers don't carry the mutation they study.

The triple perspective also exposes failures you can't see from one side. As a scientist, I see the mechanistic gaps — we still don't know why the same mutation causes paralysis in some people and dementia in others. As a future doctor, I see where the system fails families — there is no care model for a presymptomatic genetic carrier who is "healthy" but won't always be. That requires fundamentally different care than a diagnosed ALS or FTD patient. Now, multiply that by a family — generations of members facing those same odds, each at a different risk age. As a genetic carrier, I feel the cost of every month we lose to fragmented data and institutional delay.

2. Within a year of pivoting into neurodegeneration, you built an eleven-project research portfolio. What problem were you trying to solve?

I started off trying to solve fragmentation. Now, I'm trying to think my way to a cure. Why? Because I want to live. And I want to bring others with me.

One of my first projects confronted what I call the C9orf72 paradox, that concept I just brought up. One mutation causes two diseases, and nobody knows why. The same genetic defect produces the same toxic proteins throughout the brain, yet some carriers develop ALS — which attacks movement — and others develop FTD, which attacks personality, language, and judgment. What determines which disease takes hold is an open question, and so is whether the same treatment will work for both. Experts agree we may never know which genetic carriers will get ALS versus FTD—but we have to try. The data, biological samples, and prevention frameworks needed to answer those questions are scattered across the globe. So I'm building what didn't exist. My role is one of project manager. The real stars are my collaborators — physician-scientists, scientists, patient advocates, and ALS research organizations — who work with me towards our common goal. At the end of the day, it doesn't matter who gets the credit, who's on the paper, or who gets the paycheck. If I get to survive, and bring patients with me, I win.

The eleven projects fall into four areas. Disease mechanisms, including the C9orf72 paradox and a neuroinflammation study. Biomarkers* and prediction, including a $150,000 ALS Network Innovation grant I helped my collaborator win for ALS biomarkers, and another on biomarkers of disease progression. Therapeutics and prevention, including a University of Pennsylvania Longitude Prize submission to use AI to develop novel ALS treatment targets, a drug candidate screening effort, and CureC9 — a C9orf72 disease prevention and cure platform within EverythingALS. And Research infrastructure and community — consolidating the fragmented patient data that exists on C9orf72, launching the first commercial C9orf72 stem cell biorepository, the Push-Ups for ALS fundraiser, and the Search for a Self Cure video series. 

Together, they span seven countries and twelve laboratories — from advanced imaging facilities in Europe, to cell biology labs, to drug candidate screening, to partnerships with prominent ALS research organizations working to consolidate data on my gene. A very important relationship that fuels my advocacy work is that with End the Legacy, the organization supporting genetic carriers predisposed to ALS and FTD. I’m their inaugural Community Science Liaison fellow, tasked with supporting my peers with the science needed for our survival. You can see how the Search for a Self Cure video series and CureC9 program (and really, all of my projects) are a natural extension of this role.

I built these by traveling to ten neurodegeneration conferences in one year — scientist first, patient second. I asked good questions during the talks, and I heard people asking each other who I was — a newly minted PhD in a completely different field. While other people networked, I recruited. At first, the question was: Will you help me cure myself? Then it evolved: Will you help me survive? Because survival means bringing others with me. Now I ask: Will you help us change ALS? And they're saying yes.

This isn't diversification for its own sake. It's architectural. Each project addresses a specific barrier, and we need to move them all forward simultaneously to have a chance at survival. It required building every collaboration from scratch — cold messages, conference introductions, handing out business cards with a picture of my dad and me embracing. The photo on the front is one of the last times he could still hug me back; 1 year before he died. The photo on the back, a picture of him in a beach wheelchair—the last time he felt the waves against his feet; 7 months before he died. I tell these stories when I hand them out. Sometimes, as I walk away, I see people staring at the card, wiping tears from eyes.

*biomarker = a sign of disease that you can detect in blood or another sample

3. Prevention appears central to your strategy. Why has that been underdeveloped in genetic ALS/FTD?

   
   

Because onset has been defined clinically, not biologically.

My body is silent about when it will betray me, converting cell by cell from healthy to terminally diseased. There's growing evidence that biological changes begin years before symptoms appear — but we have no reliable way to track them in carriers, and nothing commercially available. No blood test, no scan, no marker that tells you what decade of your life it will start. I recently went viral on TikTok with 1.5 million views, 2 weeks after starting an account. “How come Stephen Hawking had ALS for a very long time?” several people have asked. “We still don’t know,” I answer. Neurofilament light chain, as an ALS biomarker, comes closest, but it's non-specific for ALS (it rises when neurons are damaged from other causes) and it’s not completely sensitive (it doesn’t always rise before ALS). The lack of prevention is, in part, a lack of adequate biomarkers.

Yet most treatment models still wait for impairment — unless the gene has already been successfully treated, as SOD1 was with tofersen, and only then, prevention is maybe possible through a clinical trial. But the same antisense oligonucleotide approach that worked for SOD1 failed for C9orf72. It made C9orf72 ALS patients sicker. So the lack of prevention is also, in part, an inability to functionally silence the most common genetic cause of ALS.

I'm not willing to wait. That's why I'm working with the CEO and founder of EverythingALS, Indu Navar, to power prevention studies. Our reasoning: if the digital clinical endpoints already in use for ALS trials — speech analysis, movement data from wearables — can be validated in presymptomatic genetic carriers like me and my family, those same endpoints could serve as a prevention arm alongside a traditional ALS trial. That's the prevention arm of the CureC9 program.

4. You are launching a cell bank for C9orf72 research, beginning with your father's cells and your own. What does it represent?

My father died in my arms on August 24, 2024. He wanted to live, but existing medicine couldn't help him. He was on all the "best" ALS drugs and died a year after diagnosis, struggling to breathe.

His cells are now being banked for worldwide drug discovery. So are mine. Even after we're gone, our cells will keep fighting. That's what the biorepository represents — not just a research resource, but a continuation of the fight in the only way biology allows.

Researchers and drug companies need high-quality living cells from genetic carriers to test treatments — without spending a year negotiating material transfer agreements (MTAs) between lawyers. MTAs, ugh. I’m trying to access my cells and my dad’s right now banked in my own PhD lab, and it’s taken me 9 months—I still don’t have them. That’s pretty normal. Imagine how long it would take if they weren’t mine, and I wasn’t also the scientist trying to use them to save my own life. Anyway, a whole year—that's ~5% percent of the life I have remaining. Academia and industry both need cells that are financially accessible (competitive with buying a cancer cell line on the market), quality controlled, available as either stem cells or differentiated neurons or other cell types (take your pick), from different people carrying the same gene — some with disease, some presymptomatic. That’s how they’re going to help us cure C9orf72 ALS and FTD. That's what we're building with BrainXell.

We haven't fully launched yet, but I'm excited that my cells and my dad's are seeding the biorepository. We have support to add at least one patient cell line per month, and more if there are multiple patients in one family in the household when the neurologist goes there to collect the small skin sample. Important to me and my patient peers, I've negotiated 4% of sales proceeds back to the carrier community through End the Legacy. Rare disease families have long contributed biological samples without structural return. This model changes that — infrastructure that serves both science and the families who made it possible.

5. You are also translating complex ALS/FTD research directly to genetic carriers through your video series, Search for a Self Cure. Why was that important?

   
   

Carriers participate in studies. We give blood, spinal fluid, brain scans. We enroll in observational trials. But we often don't understand the scientific strategy behind what we're contributing to. I know this because I am one of those carriers. I sit in the same waiting rooms. I roll up my sleeve for the same blood draws, I curve my back for lumbar punctures, I undergo hours of cognitive and muscle function testing. And I've felt the distance between being studied and being informed.

Through Search for a Self Cure, I interview leading scientists and translate the research critical to our survival into language carriers can use — showing people facing these diseases that science is not something done to them but something they can understand, question, and drive. If we're going to ask families to enroll in prevention studies, to contribute data, to advocate — they deserve to know what's actually happening in the labs they're fueling, and to have a real chance at understanding the biology that governs their survival.

The Search for a Self Cure video series is deeply personal to me for another reason. I have the skillset to create these but I couldn't do it until I had healed from some of the trauma of being a caregiver for my dad while knowing that ALS is very likely to be my fate. When I learned I carried the same gene as him, a few months into his diagnosis, I spent so many hours sinking into my couch, trying to find answers in scientific papers and drawing a blank. I remember encountering video interviews with experts and not wanting to watch them — I wanted to consume information by reading. So I insisted on making a blog post of every video, and illustrating them so the biology is accessible to the lay person, or a scientist outside her field of expertise. I made this resource for myself, for the darkest period of my life, and for any patient experiencing that same place now.

In so many ways, I'm proud of what it has become in just two months. Search for a Self Cure reaches patients through End the Legacy, and we now have additional sponsors in this space: EverythingALS and Corsalex. I produce it with both End the Legacy and PennMed Trainees Against ALS/FTD, a group of 25+ medical students from my institution whom I founded. It’s led by Emily Lubin, Malhaar Agrawal, and Kesshni Bhasiin, my classmates and my friends. These volunteers write and obtain research proposals, organize our Push-Ups for ALS fundraiser at the high school where my late father taught — Let’s fund a cure! It's on April 8, 2026, visit pushupsforals.org to learn more — and learn what translational research looks like when urgency is personal. They are fierce fighters for their patients in so many ways, and they awe me.

6. What lessons from your earlier research in infectious disease have translated into neurodegeneration?

The pattern.

My doctoral work required me to build a research partnership between the University of Pennsylvania and Boston University to study a dangerous virus under high-security laboratory conditions. Neither lab had what it needed alone — one had the virology, the other had the mitochondrial biology. Bringing them together produced the discovery that a basic energy pathway in our cells can suppress viral replication 100-fold. The approach was the same as what I'm doing now: identify a gap no single lab can fill, build the network to fill it, generate the data.

The biology is different — neurodegeneration instead of viral infection. But both are systems problems. And both required someone willing to travel to the collaborators, learn the new techniques, and hold the pieces together. After I met the head of structural biology at a major European research facility at the Alzheimer's and Parkinson's conference in 2025, I identified a scientific gap and recruited each expert one by one. That team has now secured time on one of the most powerful imaging instruments in the world to begin pilot data collection. The same instinct, operating at international scale.

I'm a virologist and mitochondrial biologist by training, and it brought me real delight to discover that my expertise isn't moot in the neurodegeneration space. It turns out mitochondrial biology is likely important to the process of neuron death in these diseases, and could be targeted with treatment approaches to ALS. Viruses, on the other hand, form the basis for gene therapy — and may just be the basis to save my life someday.

Closing Remarks

Rare disease research is often described as a race against time. In Dr. Soto Albrecht's case, the phrase is literal — and the clock is her own biology.

But what stands out is not only urgency. It is structure — and underneath the structure, something harder to name.

Her father squeezed her hand four times. She squeezed back three. When he could no longer squeeze at all, she held him as he died. Now she hands out business cards bearing his photo to researchers around the world, building what didn't exist so that other families might never face what hers did.

Across eleven projects in seven countries, several commitments emerge that extend beyond her own disease:

• Redefining disease onset biologically, not just clinically — because if the body is already changing before symptoms appear, then waiting for a diagnosis means losing time.

• Building prevention-oriented research where none existed — because genetic carriers currently receive results with no roadmap.

• Centralizing data and biological resources globally — because fragmentation is not a scientific problem. It is a structural one.

• Positioning patient-scientists as architects of research strategy — because the question "Will you help me cure myself?" opens doors that traditional networking does not.

• Reducing the information gap between researchers and the families whose bodies fuel the research — because participation without understanding is not partnership.

Yentli’s father, “Brother” Frank Albrecht, died on August 24, 2024, and this interview was conducted on February 24, 2026—exactly 1.5 year later. It’s a tribute to him—all that he lost, and all that she built in his memory. In her father’s words: "As long as you’re breathing, you can still make changes."

For the broader rare disease community, her model signals a shift. Genetic carriers are no longer only study participants. They are collaborators, funders, communicators, and scientific drivers — building, from the inside, the infrastructure the field has not yet built for them.