Parents of child with FoxG1 mutation to sponsor study in rare genetic disorder

By Our Reporter
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Kush is special. He is the first (in a billion) child in India and Sydney, ever, to be diagnosed with FoxG1 in March 2015. FoxG1 syndrome is described as being a mutation on the FoxG1 gene on chromosome 14. As this gene is responsible for development of the brain, children are generally very profoundly impacted. Children like four-year-old Kush are generally unable to sit, walk, eat or talk. While this sounds heartbreaking to even comprehend, Kush’s parents Monika and Vivek have immense hope that a cure can be found. This is because FoxG1 is a single gene deletion and there have been phenomenal advances in genetics and technology in the past decade that gives massive hope for gene therapies for such single gene disorders.

A ground-breaking research tool called CRISPR is making gene editing simpler, cheaper, quicker faster and more precise. Along with advances in technology the parents have also started research efforts at UNSW with Kush being perhaps the only four-year-old of Indian origin to have set up an endowment scholarship at UNSW. The Kushagra Singha FoxG1 research scholarship is aiming to sponsor a PhD research scholar to conduct fulltime research on FoxG1 mutation and its repair and treatment.

“After more than three decades of basic research, a recent breakthrough in biomedical technology called “CRISPR” (considered the breakthrough of the century) brought gene therapy a step closer to treating patients with genetic disorders such as FoxG1 syndrome,” says Dr Fabien Delerue PhD UNSW School of Medical Sciences. “A recent research program started at UNSW to elucidate the mechanisms underlying FoxG1 syndrome and develop CRISPR-based therapies in a bid to find a cure for FoxG1 and similar genetic disorders. Consequently, one should help FoxG1 Foundation because there is an actual possibility that bringing together scientists and philanthropists through the advances of the FoxG1 foundation could rapidly bring tangible results in the race for a cure,” he adds.

Monika and Vivek with Kush
Monika and Vivek with Kush

Along with the massive hope, the parents have received tremendous emotional and moral support from the diverse Indian diaspora, the strong network of mums, research community, affected parents, Australian politicians and especially from the motorcycling community in Sydney. Two main sponsors of the FoxG1 foundation in 2017 are the Kings Cross Motorcycle Social and Welfare Club President Rik Johnson , and National Secretary for Bikers Australia Steve Ratty. As Kush’s dad rides a bike to work and socially, the motorcycling community has gotten behind the cause.

Despite all their hard work and efforts, the parents have a hugely uphill battle. The parents say that while they are certain they will find a cure, they need a lot of help from the public to keep them going both emotionally, physically and monetarily too. If you see their appeals for events do join in as the foundation is still in its infancy and has a very small footprint and every person joining will a huge difference to the cause. Despite all the efforts the foundation managed to receive just under $4,000 in donations for the cause. This just shows that we all need to dig deep and help the courageous family.

Donations can be made directly to the UNSW research project by donating at the foundations Facebook page and for all queries contact vivek.singha@foxg1.org.au

 

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