RARE Daily

Rare Leader: Taruna Reddy, President, PACS1 Foundation

December 16, 2021

The Basics
: Taruna Reddy

Title: President

Organization: PACS1 Foundation

Social Media Links:

Disease focus: Children with PACS1 syndrome will be dependent life-long on caregivers. They have intellectual disabilities, global developmental delays, epilepsy, autism, and significant language impairments. All children with PACS1 syndrome have the same exact change in the PACS1 gene making it extremely unique and more easily curable relative to other genetic conditions.

Headquarters: Greenwich, Connecticut

How did you become involved in rare disease: My daughter Alya is 8. When she was 3, she was diagnosed with a rare disease, PACS1 syndrome; It’s considered a new disease because it was first discovered in late 2012. She was diagnosed in 2017, when we started the foundation because there was no foundation. There was no research. There was absolutely nothing. We looked at it and we said, “Wow, we’ve got to do something.”               

Previous career: Worked in global structured products at various investment banks.

Education: B.S. in chemical engineering from Indian Institute of Technology, Master’s degree in mechanical engineering from Columbia University

The Organization
Organization’s mission
: We’re research focused. All of our funds are spent on research. Our goal is to fund research to find treatments. We don’t spend any money on advocacy; However, in this next phase with the CZI grant, we will be able to put more resources into patient engagement and education and ultimately that will hopefully help move the research needle forward. We have a scientific board that decides on any proposals we get and figures out the avenues we can pursue to fund research to find treatments.

Organization’s strategy: We’re pursuing everything we can. We pursue small molecule approaches. We looked into sort of a cell-based screening technology and that did not end up being at a point where the board felt comfortable funding it. We’re working on antisense technologies. We don’t need a gene therapy because our disease doesn’t need more of the good protein. It’s a gain of function disease. We just need to remove the bad protein. We have a group in France that’s working on siRNA approaches—anything that can remove the toxic protein.

Funding strategy: That’s what we struggle with. We have a wonderful scientific advisory board that is very good at making sure we don’t waste our funds or spend our funds on things we’re not supposed to. We got lucky because my father-in-law has a Ph.D. from Rockefeller in genetics, so right off the bat we connected with scientists that knew what they were doing. The funding strategy is hard. There are only about 200 people in the world identified as having the disease and most of them are children, their parents are knee-deep in trying to navigate all the challenges that go along with the disease (as well as earn a living, etc.) and that doesn’t leave a lot of time for fundraising. But this year is the first year that we actually had a nice fundraising year where we had more than 20 families come together. We need to educate more families about the power of crowdfunding, which is that if you have 200 families, 50 of them come together and you can raise a lot of money. That’s what we’re trying to move forward with.

What’s changing at your organization in the next year: One thing we need to have is a sustainable budget to know how much you’re going to fund and what you’re going to fund. That’s really hard. At some point we need to build a sustainable source of fundraising. We were excited because we got the Chan Zuckerberg Initiative grant. That will help us build our infrastructure and help us to build patient engagement and those sorts of things, which we haven’t been able to do in the past because it takes funds to do. We have a strategy on the science. We do need to engage patients more and figure out how to better sustain fundraising.

Management Style
Management philosophy
: We’re purely voluntary except for our Chief Science Officer. We’ve not paid anyone to do anything. It’s been a grassroots effort so far in terms of what we’ve done. Right now, we have a research page on Facebook. I give a lot of updates. I explain what we’re doing. Thankfully, we’ve had a few parents that have had backgrounds, such as I have, and have been willing to dedicate their time. We need to build an effort where we can potentially run that model professionally.

Guiding principles for running an effective organization: For us at the stage that we are, our biggest goal or need is to communicate effectively with the families. The research is so abstract sometimes. We want to tell them what we are doing. Communication to parents—effective communication that’s simple and easy to understand—is important. We tried to make simple figures that they can understand—that sort of stuff. That’s what we try to do.

Best way to keep your organization relevant: This is something we probably haven’t done enough just because we haven’t had resources, but to keep it sustainable, you have to engage patients and caregivers for the organization to be relevant until a cure or effective treatment is found. Actually, all rare disease foundations are relevant, whether or not they’re hugely funded, because studying some of the most obscure diseases has the potential to lead us to new insights/treatments/cures for not so rare diseases.

Why people like working with you: I work hard and will do everything I can to achieve our mission. I think that a lot of these families want to do so much. I hear from them all the time that they wish they could do more, or they want to do more. They want to understand more. They want to help. They’re just relieved some organization is out there to help their child’s disease. They’re also doing everything they can. It’s not just me. I’m doing everything I can for all of our kids, so I try to be as supportive as I can to everyone.

Mentor: My daughter because she inspires me every day to work harder. My father-in-law whose guidance was key in starting the foundation, and the amazing head of our scientific advisory board, Joe Gleeson.

On the Job
What inspires you
: My daughter has this disease and it’s hard to have a better motivation than having a sick child that can benefit from the work that you do, the hope that one day she will speak, no longer have seizures, and be more independent keeps me motivated. I worked in investment banking before and I was never as motivated. Our disease is pretty unique because all of the kids have the same exact mutation, which is not just the same gene, but the same exact spot that’s mutated. The other 200 children that have this rare disease will also benefit and I’ve found personal connections with these families. I don’t think there’s a better way to motivate me than my daughter and all these other kids and families that I now personally know.

What makes you hopeful: The nature of the disease is that all the kids have the same mutation. That makes it easier to sort of analyze and study. Most genetic diseases have missense, nonsense, and whatever various mutations, deletions, duplications. For our disease, it’s really the same exact change every single time. That makes it easier to study. That makes it easier to explain. That makes it easier to treat because that means that all the kids will have the same treatment potentially. That makes me hopeful that we can get somewhere in a reasonable timeframe.

Best organization decision: When we started having the scientific board that we put in place, by far, has been our best decision. It’s so important because it shouldn’t be me as a parent making decisions on what research we fund. You need an expert scientific board that knows what they’re doing. We have an amazing board and I think that’s been the reason for where we are at the moment.

Hardest lesson learned: Someone on Twitter, from a different board and a different foundation, said something and I agreed completely: Don’t fund just someone that moves your gene or someone that knows this or that. Fund people who are translational and are going to bring it to the clinic. That’s what you need to think about.

Toughest organization decision: We struggle all the time with how much to fund basic science versus funding a screen or something along those lines. Those are pretty tough decisions. We reevaluate them all the time. We decide that all the time. Those are hard because basic science is needed, but also not always going to get you to the clinic. Those are tough decisions that not just us, but every one of these guys is making. And it’s hard.

Biggest missed opportunity: Truthfully and thankfully I don’t think we’ve missed out on that many things.

Like best about the job: It’s being able to make a real difference in the life of my kid, but also all these other parents that I meet. It’s very different than the job I had before. It’s very philanthropic, but there’s a real change in what I can do for these kids. When I worked before, I would turn off my phone on the weekend. Now, I can be on vacation, and someone can email me. I’ll say, “Let’s get on a call.”

Like least about the job: It gets so personal. That is hard because every failure is a failure for the kids that I know, like my daughter and every other child.

Pet peeve: Scientists sometimes don’t always share. That’s very hard for me. In Alzheimer’s, you have like a zillion dollars, so it doesn’t matter as much if scientists share with each other. There are enough people working on it. I think with our limited funds, we need people to share. We need them to share so this happens in a timeframe that makes sense for my daughter and all the other children.     

First choice for a new career: I’d just like to retire.

Personal Taste
Most influential book
: Songs of Blood and Sword by Fathima Bhutto    

Favorite movie: The Bourne Series

Favorite music: I grew up in India. Bollywood music

Favorite food: Sushi. We also love McDonalds in my house.

Guilty pleasure: Wine

Favorite way to spend free time: I love walking outside. It helps me so much to like, to just be, especially when the weather’s good.




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