UK toddler has hearing restored in world first gene therapy trial

Details

Written by Super User

Category: Science

Published: 09 May 2024

Hits: 833

LONDON - A British toddler has had her hearing restored after becoming the first person in the world to take part in a pioneering gene therapy trial, in a development that doctors say marks a new era in treating deafness.

Opal Sandy was born unable to hear anything due to auditory neuropathy, a condition that disrupts nerve impulses travelling from the inner ear to the brain and can be caused by a faulty gene.

But after receiving an infusion containing a working copy of the gene during groundbreaking surgery that took just 16 minutes, the 18-month-old can hear almost perfectly and enjoys playing with toy drums.

Her parents were left “gobsmacked” when they realised she could hear for the first time after the treatment. “I couldn’t really believe it,” Opal’s mother, Jo Sandy, said. “It was … bonkers.”

The girl, from Oxfordshire, was treated at Addenbrooke’s hospital, part of Cambridge university hospitals NHS foundation trust, which is running the Chord trial. More deaf children from the UK, Spain and the US are being recruited to the trial and will all be followed up for five years.

Prof Manohar Bance, an ear surgeon at the trust and chief investigator for the trial, said the initial results were “better than I hoped or expected” and could cure patients with this type of deafness.

“We have results from [Opal] which are very spectacular – so close to normal hearing restoration. So we do hope it could be a potential cure.”

He added: “There’s been so much work, decades of work … to finally see something that actually worked in humans …. It was quite spectacular and a bit awe-inspiring really. It felt very special.”

Auditory neuropathy can be caused by a fault in the OTOF gene, which makes a protein called otoferlin. This enables cells in the ear to communicate with the hearing nerve. To overcome the fault, the new therapy from biotech firm Regeneron sends a working copy of the gene to the ear.

A second child has also recently received the gene therapy treatment at Cambridge university hospitals, with positive results.

The overall Chord trial consists of three parts, with three deaf children including Opal receiving a low dose of gene therapy in one ear only.

A different set of three children will get a high dose on one side. Then, if that is shown to be safe, more children will receive a dose in both ears at the same time. In total, 18 children worldwide will be recruited to the trial.

Opal is the first patient globally to receive the therapy and is “the youngest globally that’s been done to date as far as we know”, Bance said.

The gene therapy – DB-OTO – is specifically for children with OTOF mutations. A harmless virus is used to carry the working gene into the patient.

The trial is “just the beginning of gene therapies”, Bance said. “It marks a new era in the treatment for deafness.”

Martin McLean, a senior policy adviser at the National Deaf Children’s Society, said deafness should never be a barrier to happiness or fulfilment. “Many families will welcome these developments, and we look forward to learning about the long-term outcomes for the children treated.”

With Opal’s hearing restored, her parents now have a fresh problem to contend with: their daughter’s new favourite hobby is slamming cutlery on the table to make as much noise as possible.

Parkinson's disease could be detected 7 years before diagnosis due to new eye scan

Details

Written by northsouth

Category: Science

Published: 22 August 2023

Hits: 858

LONDON - An AI-powered eye scan could help to detect Parkinson's disease up to seven years before diagnosis, new research has found.

Researchers at University College Hospital and the Moorfields Eye Hospital used artificial intelligence to identify markers of Parkinson’s in eye scans.

It is the the largest study to date on retinal imaging in Parkinson’s disease, a neurodegenerative condition that affects 145,000 people in the UK.

In recent years this method has been used to detect other neurodegenerative conditions such as Alzheimer’s, multiple sclerosis and even schizophrenia.

"While we are not yet ready to predict whether an individual will develop Parkinson’s, we hope that this method could soon become a pre-screening tool for people at risk of disease," lead author Dr Siegfried Wagner said.

"Finding signs of a number of diseases before symptoms emerge means that, in the future, people could have the time to make lifestyle changes to prevent some conditions arising and clinicians could delay the onset and impact of life changing neurodegenerative disorders."

This news comes after a previous study found that thinking that somebody is standing behind you when they’re not could be an early sign of Parkinson’s disease.

Experiencing a strong sensation that a person is behind you, when no one really is, is known as a ‘presence hallucination’.

Researchers at Ecole Polytechnique Fédérale de Lausanne (EPFL), Switzerland, warned these hallucinations appear in a third of Parkinson’s patients before the onset of trembling and other motor symptoms begin. Once the motor symptoms have started, hallucinations affect half of all patients.

Writing in Nature Mental Health, experts discovered patients recently diagnosed with the disease who experience the hallucinations are more likely to have a rapid cognitive decline.

The disease is traditionally defined as a movement disorder, with typical motor symptoms including resting tremor, rigidity and slow movements, but it also leads to a wide variety of non-motor symptoms.

Celebrities with Parkinson's disease

Michael J. Fox, 61, recently shared the story behind his ongoing health battle with the condition in a Netflix documentary. He was first diagnosed with early onset Parkinson's in 1991.

Despite his acceptance of his diagnosis, he said honestly: "Parkinson’s is still kicking my ass. I won’t win at this. I will lose." But, he added, "There’s plenty to be gained in the loss."

Other celebrities who have spoken about living with Parkinson's disease include Jeremy Paxman, Ozzy Osbourne and Billy Connolly.

What is Parkinson's disease?

Parkinson's disease is a condition where parts of the brain become progressively damaged over many years, the NHS says.

It is caused by a loss of nerve cells in the substantia nigra (a part of the brain), which leads to a reduction in dopamine (known as one of the 'happy hormones').

More specifically, dopamine also helps to regulate the movement of the body, with a lack of it responsible for many of the symptoms of the disease.

Who is most at risk of Parkinson's disease?

It is unclear exactly what causes the loss of nerve cells that leads to Parkinson's, but many experts think it is a result of a combination of genetic and environmental factors.

While Parkinson's can run in families due to 'faulty genes' being passed on by a parent, it is rare for it to be inherited this way.

Parkinson's disease affects roughly one in 500 people in the UK. Most people with the condition start to develop symptoms when they're over 50. That said, around one in 20 people also first experience symptoms when they're under 40.

Men are slightly more likely to get the disease than women.

Parkinson's disease symptoms

There are three main symptoms of Parkinson's, which are:

- involuntary shaking of particular parts of the body (known as a tremor)

- slow movement

- stiff and inflexible muscles

Someone with Parkinson's disease can also experience a variety of other physical and psychological symptoms, including:

- depression and anxiety

- balance problems (this may increase the chances of a fall, which could help to explain Paxman's accident, for example)

- loss of smell (known as anosmia)

- sleeping problems (insomnia)

- memory problems.

The 'Parkinson's mask' – previously referred to by Paxman – is known as 'facial masking' or 'hypomimia', which links to the stiffness of muscles some people experience.

Nurse Linda, from the Parkinson's UK helpline, explains on the charity's website that the lack of dopamine in the brain can stop your facial muscles from working how they used to.

When this happens, people can look like they have a blank expression, even if they are experiencing a strong emotion. Having a Parkinson's mask is a common symptom and it doesn't mean someone with the condition is necessarily feeling low or depressed – they just can't use their facial muscles to correctly express themselves.

Many people with Parkinson's also report problems with apathy (lack of interest) and motivation, which means they might not respond to emotions like they used to.

Cancer breakthrough as groundbreaking pill found to ‘kill tumours’

Details

Written by northsouth

Category: Science

Published: 02 August 2023

Hits: 885

LONDON - Scientists at a leading US hospital have developed a “cancer-killing pill” that kills solid tumours through “targeted chemotherapy.”

Likened to a “snowstorm that closes a key airline hub, shutting down all flights in and out only in planes carrying cancer cells”, the protein was developed by a research team at the City of Hope, one of the largest cancer research and treatment organisations in the US.

The AOH1996 molecule works by targeting a cancerous variant of PCNA, a protein critical to DNA replication and repair of enlarging tumours.

Developed over the last two decades, it has shown to be effective in preclinical research treating breast, prostate, brain, ovarian, cervical, skin and lung cancers.

The study, published in the journal Cell Chemical Biology, tested the protein across over 70 cancer cell lines. The results noted that AOH1996 selectively killed cancer cells by “disrupting the normal cell reproductive cycle”, with the next stage aiming to further the clinical trial in humans.

"PCNA is like a major airline terminal hub containing multiple plane gates. Data suggests PCNA is uniquely altered in cancer cells, and this fact allowed us to design a drug that targeted only the form of PCNA in cancer cells”, said Linda Malkas, Ph.D., professor in City of Hope’s Department of Molecular Diagnostics and Experimental Therapeutics and the M.T. & B.A. Ahmadinia Professor in Molecular Oncology.

“Our cancer-killing pill is like a snowstorm that closes a key airline hub, shutting down all flights in and out only in planes carrying cancer cells.

"Results have been promising. AOH1996 can suppress tumour growth as a monotherapy or combination treatment in cell and animal models without resulting in toxicity. The investigational chemotherapeutic is currently in a Phase 1 clinical trial in humans at City of Hope."

"No one has ever targeted PCNA as a therapeutic because it was viewed as ‘undruggable,’ but clearly City of Hope was able to develop an investigational medicine for a challenging protein target," Long Gu, Ph.D., lead author of the study and an associate research professor in the Department of Molecular Diagnostics and Experimental Therapeutics at Beckman Research Institute of City of Hope, added.

"We discovered that PCNA is one of the potential causes of increased nucleic acid replication errors in cancer cells. Now that we know the problem area and can inhibit it, we will dig deeper to understand the process to develop more personalized, targeted cancer medicines."