Heart defects affect 40,000 US babies every year — but cutting edge AI and stem cell tech will save lives and even cure them in the womb

Katie Blue-Pugh was just a few hours old when her lips turned blue and panic suddenly set in for her parents and staff in a California maternity ward.

Later that day, doctors discovered she had a major heart defect, born with a single ventricle. She was immediately sent by ambulance to a nearby hospital at University of California, San Francisco, for life-saving surgery.

By the time Katie was 9 years old, she’d undergone multiple invasive procedures but still “couldn’t run across a playground without stopping.”

“My lips were blue, my nails were blue, my oxygen saturation was at 60%, it’s supposed to be above 90%,” Blue-Pugh told The Post.

The most common types of birth defects occur in the heart, according to the Centers for Disease Control and Prevention. They affect around one in every 100 live births, which is equivalent to 40,000 babies born in the US each year, or one child born every 15 minutes, according to the Murdoch Children’s Research Institute (MCRI).

Blue-Pugh is now 34 years old and thriving in Durham, North Carolina. While the Fontan procedure to “re-do the plumbing” in her heart has dramatically improved her quality of life, she still may need a heart transplant one day, according to doctors.

“Thinking of one’s own mortality is scary,” she said.

“I’m very grateful to be here. I live a pretty much normal life. But thinking I might one day need a transplant and that my body can reject it gives me a lot of anxiety.”

Groundbreaking new research in stem cell and Artificial Intelligence [AI] technology has raised hopes of eliminating all of these worries, and treat conditions like hers — even before birth.

Top health researchers from MCRI in Australia have teamed with those from the Gladstone Institutes in San Francisco on a new program to develop cutting-edge technologies to treat the underlying causes of childhood heart disease more effectively.

Current treatment options such as transplants are inadequate as donor heart supply is limited, patients have a lower medium-to-long-term chances of survival and they require lifelong immunosuppression, according to MCRI.

Professor Enzo Porrello at MCRI is spearheading the new research which focuses on developing personalized treatments to prevent the progression of the disease and, ultimately, to avoid the need for transplantation.

The initiative, dubbed “Decoding Broken Hearts”, leverages MCRI’s stem cell technologies and Gladstone Institutes’ advanced AI capabilities to “understand human disease biology”.
“Transplantation is not a cure, it’s really a last resort,” Porrello said.

The partnership aims to be able to offer personalized treatments to young patients.

Porrello and his team pioneered the stem-cell field in 2017 when they created the most complex 3D mini-models of human heart tissue in the world. They can now mimic the human heart in a lab dish and perform breakthrough experiments to create treatments.

“We can produce thousands of these miniature human heart tissues from stem cells every week,” Porrello explained.

“These types of studies generate enormous data sets. We need to be able to mine those data sets to pinpoint the underlying cause of the heart disease – this is where AI comes in.

“It allows us to predict how an individual patient might respond to a particular therapy.

“Potentially the approach we’re developing can apply to all forms of heart disease, not only children, but adults.”

MCRI’s researchers are working with cardiologists and heart specialists to get to a point where they can eliminate defects before they even have time to develop.

“By going in and editing these genes early – first it’ll be at birth – the way they use their AI is you can go in and snip these genes at different stages. (Then it’ll be) going to the mother and preventing the diseases from happening in the first place,” said MCRI Global Ambassador, Sarah Murdoch, who is the wife of Lachlan Murdoch, the Chairman of The Post’s parent company, News Corp, and Chief Executive Officer of Fox Corporation.  

They are carrying on the legacy started by world-leading philanthropist Dame Elisabeth Murdoch — the late mother of media mogul, Rupert Murdoch, who founded the original Murdoch Institute for Research in Birth Defects in 1986 alongside genetics pioneer Professor David Danks.

Since then it has grown from a genetics research institute to a global leader in children’s health.

MCRI is now ranked among the top three best child health research institutes in the world for the quality and impact of its work.

A living example of the leaps forward in heart research by MCRI and Gladstone Institutes can be seen in the case of Ebony and Kyle Mallison.

Their daughter, Amelia, was 2 years old when she suddenly suffered heart failure.

She was diagnosed with LVNC cardiomyopathy after waking up on Mother’s Day 2015 with a “face was so swollen that she could barely open her eyes,” Ebony said.

“She was in the ICU for a week and then on the cardiac ward for another week before she came home,” Ebony, a 31-year-old receptionist in Melbourne, Australia, told The Post.

Later that year, an organ donor became available and Amelia had a heart transplant at just 3 years old.

But the Decoding Broken Hearts’ initiative’s research will hopefully mean now-11-year-old Amelia’s brother, Elijah – who has the same heart condition – will not have to undergo a transplant at all.

“Eli is currently stable, but our hope is, if he ever does become unwell, the work that MCRI is doing would be very beneficial in any treatment that he needed,” Ebony said.

Sarah Murdoch has seen first-hand the heartbreaking reality of what children affected by heart disease and their families go through.

“I visited a child who was an 18-month-old toddler, who had the tubes coming out of her chest to a machine that pumps her blood for her. Bed bound,” Murdoch told The Post.

“You think of a toddler – I’d never seen a child in that condition at that age. She just sat there. And she’ll be sitting there waiting until she can have a heart.

“It’s extra hard when you have young children yourself – that’s what motivates us.

“Some months ago we pioneered being able to map an entire human genome of a child – a rapid diagnosis in three days. We’re doing it in four hours now. This is where we’re going to be able to map an entire baby genome. Find the genetic problem, before it causes an issue.”

Another area where MCRI has excelled is in developing a life-saving vaccine for newborns to prevent rotavirus – a highly infectious virus which caused over 400,000 deaths per year in developing countries in the 90s and early 00s, according to the National Institutes of Health (NIH).

The World Health Organization (WHO) now recommends the vaccine for all children and it has been introduced to 114 countries, where it has been up to 90% effective in preventing severe rotavirus, according to the NIH.

Ebony says that the research and leaps forward made by MCRI make her whole family feel reassured and hopeful.

“It’s good to know that there are people working on things that will help the lives of my kids and other kids around the country,” she said.