Meet the biotech-company founders driven by their child’s rare disease

For some parents, finding a cure for their child’s illness is the ultimate motivation to start a company

Annie and Ilan Ganot (pictured with their children) tapped into their networks to start a firm focused on Duchenne muscular dystrophy.Credit: Ilan Ganot

For most parents of children with serious medical conditions, the date of the diagnosis is seared into their memory. For Terry Pirovolakis, it was 2 April 2019. After an 18-month diagnostic odyssey, he was told that his son, Michael, had a progressive neurodevelopmental condition called spastic paraplegia 50 (SPG50), and would probably never walk or talk.

But, unlike most parents, Pirovolakis began a journey to find a cure, which ultimately led to setting up a biotechnology company. He is not alone. Pirovolakis, chief executive of Elpida Therapeutics in Encino, California, says there is a small but growing number of parents doing the same. Four years ago, he started a channel for them on the online communication platform Slack, which now has more than 400 members.

Major advances in life-science tools over the past 20 years, and the increasing number of ways to produce therapies mean that finding cures is not just wishful thinking, although the road to clinical success is still daunting. Some of these parents have backgrounds in finance or business, but most have no formal scientific training. However, all share a determination to keep going. They describe what it took to get their firms off the ground, and how they deal with the highs and lows of being both a parent and a company founder.

In 2012, after their two-year-old son, Eytani, was diagnosed with Duchenne muscular dystrophy (DMD), Ilan and Annie Ganot gave up their previous careers. Realizing that the networks they had developed could help them to raise the necessary capital to start a biotech firm, the family relocated from London to Boston, Massachusetts, in 2013. By the year’s end, they had US$17 million in seed funding for the company, Solid Biosciences. “I didn’t know if it was going to succeed or fail,” says Ilan Ganot, “but it didn’t feel like there were a ton of reasons not to try.”

Daniel Fischer had been an e-commerce entrepreneur and a management consultant before Natasha, one of his twin daughters, was diagnosed in 2009 with Dravet syndrome, a severe form of epilepsy caused by a genetic mutation. Unlike his wife, who immediately began to read the literature, Fischer felt there was little he could do, but a series of serendipitous meetings with other parents changed his mind.

At one, a computational biologist explained his work on drug repurposing — finding new uses for existing medications. Then Fischer received a call from another parent, who was looking to support work towards a cure. The three of them started Intellimedix in Atlanta, Georgia, which uses computational modelling to screen existing drugs for anti-seizure activity. Eventually, they opened a laboratory in Boston to screen the top hits in a zebrafish model of the disease.

Daniel Fischer (with daughter Natalie, left) started companies to work on Dravet syndrome.Credit: Karina Fischer

Jill Wood had a career in fashion retail, when. in 2010, her son Jonah was diagnosed with Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), a rare genetic disorder that causes damage to the brain and nervous system. “We were told that he had an incurable, ultra-rare disease, no treatment. It was terminal,” says Wood. She “flipped out” and started fundraising as a non-profit foundation, but “quickly realized that wasn’t going to cut it”.

Wood immersed herself in the scientific literature and started seeking out the key researchers who work on the disease. She quit her job to go to conferences, sometimes taking Jonah, as well as her sister or husband to help. She recalls waiting for one researcher outside the men’s toilets so she could ask questions. Following the example of another mother of a child with Sanfilippo syndrome, who set up a company called Lysogene in Paris in 2009, Wood transformed her foundation into a biotech company called Phoenix Nest, based in New York City, and won a US National Institutes of Health Small Business Innovation Research grant to pursue therapies for Sanfilippo syndrome. So far, the company has been awarded more than $13 million and has a preclinical pipeline that includes a peptide, an enzyme replacement therapy and a gene therapy.

At the time of his son’s diagnosis, Pirovolakis, who is based in Toronto, Canada, had spent 25 years in information technology. He knew nothing about genetics and was reluctant to move into biotech, but concluded, “if I don’t do this, who will?” Within a couple of months, he hired a team at the University of Texas Southwestern Medical Center in Dallas to start work on a gene therapy for his son. “We liquidated our life savings, and we knew that even if we sold everything, we wouldn’t have enough money.” He embarked on an exhausting fundraising campaign of galas and golf tournaments and, over four years, raised US$4.5 million. In December 2021, Health Canada gave the gene therapy, Melpida, the go-ahead for use in a single-patient clinical trial, and Michael was treated in March 2022. Since then, seven other children have been treated. Preliminary results suggest that the therapy can stabilize the disease (J. J. Dowling et al. Nature Med. 30, 1882–1887; 2024).

He then wanted to hand over the programme to any organization for free and return to his previous career, but found no takers; the market for the treatment was too small, with fewer than 100 people known to be affected worldwide. So he set up the non-profit company Elpida, with the help of two investors.

Start-up company or charity?

For those with business or finance backgrounds, setting up a company seemed the obvious choice. “I basically went with what I knew how to do,” says Fischer. Wood says the constant need to fundraise for the charity that she and her husband initially set up was harder than running a biotech firm. “It’s like having to plan three weddings a year for 300 people, and it is soul-sucking. After a while, you are hitting up the same people over and over — you wear everybody thin.”

Ganot realized that it would take hundreds of millions of dollars to find a cure for DMD, and that raising that amount would need a for-profit company. But creating profit isn’t so easy for rarer diseases. Brad Margus was faced with this problem in 1993, when two of his sons, Jarrett, then aged four, and Quinn, then aged two, were diagnosed with ataxia–telangiectasia (AT). This genetic disease causes loss of muscle control and problems with the lungs and immune system, as well as heightening the risk of cancer, and often leads to death by early adulthood.

He and his wife poured their energy into a foundation while he continued to run a shrimp-processing business. But he found it increasingly difficult to care about supplying restaurants, and instead focused on how to accelerate research on AT. His knowledge of and focus on drug discovery drew several venture capitalists to him in 2000, looking for executives who knew about genetics. That same year, he co-founded Perlegen Sciences, a company based in Mountain View, California, that sought to identify patterns in genetic differences that underlie disease.

Parents who want to start a company to find a cure for their child’s disease should take the plunge, says Brad Margus, who has founded several biotechnology firms.Credit: Brad Margus

Although he wasn’t working on an AT cure, “now I could think about science all the time,” he says. He has since founded two more biotech companies, Envoy Therapeutics, which was sold to Takeda Pharmaceuticals, based in Tokyo, in 2012, and Cerevance in Boston, which has a therapy for Parkinson’s disease in a phase III trial. All the while, Margus says, he has been leveraging his experience to benefit the AT mission. “You really can’t work for me at a company and be smart and not expect to have me ask you a lot of questions” about the disease, he says. Cerevance has helped to analyse brain-tissue samples from children who died from AT.

Limited scientific knowledge hasn’t been a barrier for some parents who have founded companies. Arjun Natesan, senior vice-president of translational research and portfolio management at Ultragenyx in Novato, California, which focuses on rare diseases, runs an entrepreneur bootcamp to help them, and says he is impressed by their scientific literacy. “It’s like they have a PhD in their specific indication. They can talk the talk, and they truly understand a lot of the biology.” Fischer took some courses at the Massachusetts Institute of Technology in Cambridge, and says, “I’m at a stage where I can talk smartly about the science, but don’t ask me to do it or to work out too many details!” Wood picked up what she needed to know but “a lot of times I just nod my head and go with it”, she says. They both trust the scientists they hired to provide the expertise they lack.

Having a personal stake in the company’s pipeline matters. “Your motivation is going to guide many of the decisions,” says Fischer. But, as a chief executive, he sometimes has to make choices that go against his personal interests. “Sometimes we have to prioritize the programmes where you have a bigger probability of succeeding in the market.” If this helps the company to succeed, he thinks, in the long run it puts him in a better position to find a treatment for Dravet syndrome. Ganot, who now runs Alesta Therapeutics in Boston, another firm with a focus on rare diseases, has a similar ethos. “It was important to me that this would not be about my son. This would be because of him,” he says. The approach has helped him to make decisions in the interests of stakeholders as well as those being treated.

The personal mission can make you “less patient” and “more blunt and candid”, says Margus, which might not always be easy for colleagues. But, he adds, a large proportion of people in biotech have a personal connection to the field: “They’ve got a mother who’s cognitively declining or they’ve got a kid with something.” At Tevard Biosciences in Boston, which Fischer co-founded in 2017 together with another Dravet parent, the leadership thinks hard about being patient-focused, he says, by bringing families in to talk to the team, for example. “I always tell our employees, ‘I know we’re working with cell lines and mice, but in the end, remember we’re working for kids and I have one at home.’”

Highs and lows

As with any biotech endeavour, parents who launch companies go through highs and lows, and sometimes a steep learning curve. Wood experienced the departure of a principal investigator (PI), which meant that the $2-million NIH grant that was funding employees, including herself, was frozen. She ended up borrowing money from her brother to keep the company afloat, and did not take a salary for six months until she could find another PI willing to take on the grant. “That was almost a year by the time it all got back on track,” she says. “I cried every day.”

Pirovolakis says he learnt to remove his emotions from stressful situations. In 2021, he lost a gene-therapy product worth $800,000 because of snowstorm shipping delays. He felt like screaming at people, but quickly moved on to thinking about fixing the situation. Ganot also experienced severe disappointments, such as unexpected safety challenges during clinical trials of a candidate molecule. “When it’s personal, it hits you much harder,” agrees Fischer.