Bret Hatzinger graduated with a biology degree from Bucknell University, in Pennsylvania, last May, and had his sights set on going to medical school to become a doctor.
But after working on some research projects during his undergraduate study, the 22-year-old has put his medical school plans on hold to do some more research as part of a United States Fulbright graduate scholarship — this time on Meckel syndrome, at the University of Otago.
"It’s kind of a crazy winding road to how I got here," he said.
"It starts in Dallas, at the University of Texas Southwestern Medical Center, where I was doing some research the summer after my third year of uni.
"I was working on some rare disease-type stuff — in particular, a rare genetic blindness.
"But there was a researcher at the university, while I was working on my Fulbright application, who had actually used a New Zealand sheep disease model."
The sheep had shown all the characteristics of Batten disease — a group of rare, inherited, neurodegenerative disorders in humans, Mr Hatzinger said.
"The researcher had used the sheep to evaluate a gene therapy for the disease, and it actually worked.
"I believe that treatment is now going through the FDA to be approved.
"So I got to chatting with this guy while I was doing my application, and that was kind of like the light-bulb moment for me."
He had always wanted to come to New Zealand, so he filled out his Fulbright application to do similar research on Meckel syndrome, using the sheep model of disease, he said.
The rare genetic disorder affects the cilia — tiny hair-like structures that play a crucial role in cell function.
It is inherited in an autosomal recessive manner, meaning both parents must carry the gene mutation for their child to be affected.
It can result in a protrusion of brain tissue through an opening in the back of the skull; enlarged kidneys with numerous fluid-filled cysts; the presence of extra fingers and/or toes; abnormalities of the brain and spinal cord; liver fibrosis and cysts; abnormalities of the eyes, heart, bones, urinary system and genitalia; cleft lip/palate; and/or underdevelopment of the lungs.
The syndrome can be diagnosed prenatally through ultrasound and genetic testing, but it is a lethal disorder and most affected babies die before or shortly after birth.
At the moment, there is no cure or treatment for it.
Mr Hatzinger is now working with University of Otago pathology professor Mike Eccles, investigating the mechanisms underlying Meckel syndrome.
His ultimate aim was to use sheep and gene editing to eventually find a therapy that could treat the syndrome while an affected baby was still in the womb.
However, the research was still in its very early stages and he would only be here until the end of the year.
"It’s a very short timeframe.
"So there’s potential, if this is going really well, that I might find myself continuing this research instead of going to med school."
