Tag: Murdoch Childrens Research Institute

Murdoch Children’s Research Institute’s Dr Simranpreet Kaur is leading Australia’s first KAND research program in collaboration with national and international collaborators including KIF1A.org. The team hopes to accelerate research into KAND, develop effective treatments through stem cell-based models and understand the cell process that changes in response to genetic changes in the KIF1A gene.

These advances will improve long-term health outcomes for our KIF1A Koalas and may potentially offer unprecedented and life-changing opportunities for individuals and families affected by KAND and related disorders.

MCRI continues to support our foundation by featuring some of our super heroes on their website. Here we share an article that turns the spotlight on one of our KAND parents and gives you a parent’s perspective on supporting a child with KAND. You can also read their beautiful article about Edward here.

Gary Boyer: A Father’s Journey

The Boyer family’s life has been profoundly inspired by their young son’s rare neurological degenerative condition. 12-year-old Edward Boyer is one of approximately 500 people diagnosed with KIF1A Associated Neurological Disorder (KAND) worldwide and the first patient diagnosed with KAND in Australia.

On Father’s Day, Gary Boyer shares his experience as Edward’s dad and a constant support and strength for his son and family throughout this unique journey. His unwavering love and determination are a true testament to the power of paternal devotion. 

“It’s a bittersweet experience,” says Gary. “You want to do things with your son, and you look out the window and see people kicking the footy down the street with their kids. Knowing you can’t do that is really heartbreaking”.

“But at the same time, I love him for who he is, and he inspires me every day. We are grateful for all the research and support we have received, and we want to do everything to help him live the best life possible.”

Murdoch Children’s Research Institute researcher, Dr Simran Kaur, is investigating the cause of Edward’s condition using advanced technologies like stem cell-derived brain cells. Dr Kaur is also pioneering the search for therapies and drugs that can help slow down or stop the negative effect of KAND on KIF1A individuals, like Edward.

Edward’s story has inspired the family to seek support and spread awareness about this rare genetic condition. Despite the hardships, the family finds joy in every moment, while actively exploring new treatment options and advancements to improve Edward’s quality of life.

Read about Edward’s story in this ABC News article.

The Boyer family’s journey showcases their unity and resilience in adversity. They are not only focused on finding solutions for their own child but also on contributing to the broader scientific and community understanding of KIF1A.

Gary’s commitment serves as an inspiration for others who may be dealing with rare conditions, reminding us of the strength that family and community can provide in times of difficulty.

Happy Father’s Day to all the fathers and father figures in our lives. Your support, encouragement, laughter and love make a world of difference to the children in your care.

Murdoch Children’s Research Institute’s Dr Simranpreet Kaur is leading Australia’s first KAND research program in collaboration with national and international collaborators including KIF1A.org. The team hopes to accelerate research into KAND, develop effective treatments through stem cell-based models and understand the cell process that changes in response to genetic changes in the KIF1A gene.

These advances will improve long-term health outcomes for our KIF1A Koalas and may potentially offer unprecedented and life-changing opportunities for individuals and families affected by KAND and related disorders.

MCRI continues to support our foundation by featuring some of our super heroes on their website. Here we share Edward’s article and you can read a KIF1A parent’s perspective by reading an article featuring his father, Gary here.

Read the article below.

A smile that steals your heart

Edward Boyer is one of only 500 in the world to have been diagnosed with a rare condition called KIF1A-Associated Neurological Disorder (KAND).

KAND is a severe and rare neurodegenerative disorder caused by one or more variations in the KIF1A gene. This important gene produces a protein that is only expressed in brain cells and is critical for the transportation of important substances necessary for neuronal survival and brain function.

This condition has left Edward unable to walk, legally blind and facing a number of cognitive and behavioural challenges.

“When Edward was diagnosed with KAND in 2015, it was such a shock as he had previously been diagnosed with Cerebral Palsy. We thought we knew what to expect for the future of Edward’s life, but there is very little known about this disease,” said Edward’s mother, Catherine Boyer.

Life with KAND

Edward lives at home with his father Gary, mother Catherine, older sister Azalea and younger brother Oliver in Bendigo, Victoria.

“Edward is such a vibrant, energetic, super happy, funny, young man who has the most amazing blue eyes and the cutest little smile that will just steal your heart. He loves music and has an amazing ability to remember beats and words of songs, even after listening to the music once or twice,” said Catherine.

“However, this disease has reduced Edward’s ability to live life like his siblings and other kids his age.

Not knowing what the future holds is very difficult to comprehend, we have felt quite alone for some time, with no one to talk to, but finding a specialist that could help was like winning the lottery.”

Hope for treatment

Murdoch Children’s Research Institute is leading Australia’s first KAND research program in collaboration with national and international collaborators including KIF1A.org to accelerate research into KAND.

“KAND symptoms often appear at birth or early childhood, have varying severity and can result in early death. Because clinical features overlap with other neurological disorders, children can be misdiagnosed or remain undiagnosed for a long period of time,” said Murdoch Children’s Dr Simranpreet Kaur.

The team hope to develop effective treatments by understanding the biology behind KAND. This involves the use of stem cell-based models to find key processes in the cell that alters in response to the KIF1A genetic mutations.

“These advances will improve long-term health outcomes for this vulnerable group of children and may potentially offer unprecedented and life-changing opportunities for individuals and families affected by KAND and related disorders,” said Dr Kaur.

A trip of a lifetime

In August 2023, the Boyer family raised vital funds for a trip to the US to attend the KIF1A conference, where Murdoch Children’s presented alongside other world-leading researchers on their work in KAND.

“The connections we make in our little KIF1A community are so very special and Gary and I hold them very close to our hearts as these people are ‘our family’. Learning about the advancement in research and treatments was incredible…to know how far things have come and how bright and promising the future is, is exciting,” said Catherine.

While in the US, Edward also had the opportunity to visit Disneyland with his family.

“We took Edward to the happiest place on earth and to meet his best pal ‘Mickey Mouse’. Seeing Edward’s face light up when he first laid eyes on Mickey was just beautiful. I was so filled with joy for him that tears just started trickling down my face, it was the best feeling and the realisation that we made the right decision bringing him.”

Now having returned home to Bendigo, the Boyer family hope to continue raising awareness and funds for KAND and the critical need for targeted therapies.

“Supporting research will give us a chance to improve Edward’s quality of life, but just as importantly, cure future generations of children who are born with this disease so they can experience a better life,” said Edward’s father, Gary Boyer.

Find out more about MCRI’s KIF1A research.

Murdoch Children’s Research Institute’s Dr Simranpreet Kaur is leading Australia’s first KAND research program in collaboration with national and international collaborators including KIF1A.org. The team hopes to accelerate research into KAND, develop effective treatments through stem cell-based models and understand the cell process that changes in response to genetic changes in the KIF1A gene.

These advances will improve long-term health outcomes for our KIF1A Koalas and may potentially offer unprecedented and life-changing opportunities for individuals and families affected by KAND and related disorders.

We were thrilled recently MCRI featured a story on Summer and The KIF1A Australia Foundation.

Read the article below.

Building a foundation of hope

Like her older siblings, Summer has learnt to crawl and walk. But unlike them, any developmental milestone she gains she will eventually lose.

Summer, 3, has the rare disease KIF1A-Associated Neurological Disorder that affects the brain, muscles and nerves.

She has been crawling for almost a year and while she can walk, it’s only for a few steps at a time unaided.

Mum Jeanette said Summer’s initial diagnosis was global developmental delay, but she was certain there was something more.

“We were concerned about Summer’s early milestones as she wasn’t crawling until about 16 months old and she had a habit of bumping into objects and leaving bruises on her forehead,” she said.

“While Summer’s early brain scans came back normal, it did show an issue with her optic nerve. An eye scan later confirmed optic nerve atrophy, which has greatly affected Summer’s vision.”

Summer was referred for genetic and metabolic testing, which involved a difficult almost year long wait for results to return from the US.

“It was devastating when Summer was eventually diagnosed with KIF1A-Associated Neurological Disorder, which only impacts about 23 people in Australia. The serious disease means Summer will go backwards and lose key physical and mental skills she has gained.”

After taking time to process the diagnosis, Jeanette and her family joined an international support group through KIF1A.org and explored current treatment options.

“We sought out a range of treatments and found out that some experimental, highly invasive overseas options cost around $2 million, which we simply didn’t have,” she said.

“Learning that Murdoch Children’s Research Institute’s (MCRI) was working towards therapies right here in Australia helped galvanise me to start a foundation with my husband David.”

The family launched the KIF1A Australia Foundation in May 2024 and donated an initial $10,000 towards MCRI’s KIF1A research.

“Our family-owned building company helps support the foundation, with an aim to both fund future breakthroughs and build a high-tech, inclusive school for children with complex needs,” Jeanette said.

Despite the many challenges that come with KIF1A, Jeanette said Summer was adored by her siblings and remained a happy, affectionate child.

“It can be isolating when your child has an extremely rare disease, but any time we get with Summer is a blessing, she reminds us every day that life is still fun and joyful,” she said.

“I sincerely hope that one day there is a treatment that can control or even reverse KIF1A symptoms and the developmental regression, not just for Summer but every child in the world with this disease.”

Find out more about MCRI’s KIF1A research.