Genetic marker found for rare children's brain disease
Photo:
Image by Gerd Altmann from Pixabay
An Otago-led team has uncovered a genetic cause for a rare children's brain disorder.
University of Otago associate professor Louise Bicknell, co-author of the study, said the international research team were investigating microcephaly, a developmental disorder where children's brains fail to grow.
Dr Louise Bicknell says new research has helped pinpoint a genetic cause of the devastating children's brain disease microcephaly.
Photo:
Supplied/ University of Otago - Sharron Bennett
They pinpointed specific changes in a gene called CRNKL1, and their findings were recently published in the prestigious
American Journal of Human Genetics.
It was the culmination of a seven-year study of a New Zealand family, Bicknell said.
"Their wee girl had really severe microcephaly. Her brain was much smaller than we'd hoped for, and there were quite a few structural things that were abnormal about her brain, so quite unusual."
Researchers compared her brain structure with that of nine children overseas who also had the condition.
"It was only then that, we realised they all had similar features, of a really small brain, as well as these structural [aspects] of other parts of the brain not being so usual."
In a striking discovery, nine of the families also showed genetic changes in the exact same spot in the CRNKL1 gene.
It proved there was a strong link between these specific genetic changes and the disorder, and it was an exciting breakthrough, she said.
"That's when the heart starts racing and you know you are onto something. Your gut instinct kicks in and says, this can't be a coincidence, this must be something."
Lead author Dr Sankalita Ray Das, a postdoctoral fellow at Otago's Rare Disorder Genetics Laboratory, said the research findings clearly showed that CRNKL1 was "crucial" for healthy brain development.
"Importantly, this knowledge has provided understanding for families affected by these severe conditions and lays the foundation for further research into why just the brain is affected by these genetic changes."
The researchers received funding from the Neurological Foundation of New Zealand, Cure Kids and the University of Otago, Bicknell said.
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He urged Ferguson to create a group and "hound the idiots that have caused this problem". "Make them be answerable to their vindictive and unfair predatory behavior against me that really is hurting you [sic]. "My evidence is strong that we have been unfairly treated leaving you in the wake of the destruction without any care now." He said he did not have a solution, but was holding meetings. "We are looking at all angles but have to be very careful how we do it." Kruger said action needed to be taken "against those that caused this". "The names and contact details of the offenders are on my website. Ask them what now?" Ferguson said she felt some of the messaging was "aggressive". She tried to access her son's patient files and couldn't. Ferguson took her son to another dentist for a second opinion and was told he didn't need treatment and likely never did. 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Photo: Googlemaps One mother said her daughter began treatment at six, and another said their child's unfinished treatment left them with teeth that didn't line up and an incorrect bite. Another said their child had a twisted bottom jaw and incorrect bite while another said they'd paid $11,000 upfront and had 18 months of treatment and while "taking a break" the clinic shut. The parents complained of being unable to access files, get information out of the clinic, contact Kruger, and of being out-of-pocket. At least one said they reported the case to police and another said they were advised by the Dental Council to complain to the Privacy Commissioner to recover patient files and lodge a claim with the Disputes Tribunal to recover their money. RNZ spoke to Kruger in Panama, where his website advertises that he runs several businesses including consulting for dental and orthodontic practices, and another in tourism in Boquete. He said he was consulting to dentists in the United States and Australia by providing clear aligners and getting "lots of referrals". Kruger blamed the closure of the clinic on a Waikato orthodontist he alleged was "very aggressive against a dentist doing orthodontics because he felt they had to be a specialist which is nonsense". "I've seen orthodontists do terrible work." Asked what happened to the practice's 450 patients, Kruger answered: "Good question, I dunno. I wasn't allowed to talk to them. If I did I was going to get a $10,000 fine." He said at the time he encouraged patients on his website to start a "class action suit" against the Dental Council. "They've made this decision with no evidence, no proof whatsoever, and with me providing evidence that I've done no harm... that I'm not actually treating patients in New Zealand. "I'm working as a consultant to a company in Panama that was at that time providing clear aligners directly to the patient in New Zealand and they were being looked after by dentists who are registered in New Zealand." He claimed he wasn't treating the patients, only providing aligners to a dentist at True Alignment, and said he didn't own the practice. According to the Companies Office, Kruger was the sole director and shareholder of TSM, the company based in the same building as the practice at 82 Alpha St, when the last annual return was filed in June 2023. He is still listed as the current director and shareholder, however, he said TSM was a management company that managed staff at True Alignment. When asked about the money paid by Ferguson for her son's unfinished treatment, Kruger hung up. Kruger has operated dental practices in Cambridge under different names since 1993 including The Smile Center, Gentle Dental, Gentle Orthodontics and Growth Orthodontics. Gentle Orthodontics and Gentle Dental were put in liquidation in 2010 owing $481,000. Dental Council chief executive Marie MacKay said Kruger was registered with the council but did not hold a current practising certificate and could not legally practice in New Zealand. "Dr Kruger has previously publicly acknowledged that complaints against him were under investigation, however in accordance with privacy legislation, we are not able to disclose the details of any complaints or investigation." She said the Dental Council did not hold any authority over a practitioner's ability to register, practice, or provide clinical advice in any other jurisdiction than New Zealand.
