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https://www.cuh.nhs.uk/news/baby-born-deaf-can-hear-after-breakthrough-gene-therapy/

Baby born deaf can hear after breakthrough gene therapy

Baby girl born deaf can hear unaided for the first time, after receiving ground-breaking gene therapy when she was eleven months old at Addenbrooke’s Hospital in Cambridge. 

Opal Sandy from Oxfordshire is the first patient treated in a global gene therapy trial, which shows “mind-blowing” results. She is the first British patient in the world and the youngest child to receive this type of treatment. Opal was born completely deaf because of a rare genetic condition, auditory neuropathy, caused by the disruption of nerve impulses travelling from the inner ear to the brain. Within four weeks of having the gene therapy infusion to her right ear, Opal responded to sound, even with the cochlear implant in her left ear switched off.

 

Auditory neuropathy can be due to a variation in a single gene, known as the OTOF gene. The gene produces a protein called otoferlin, needed to allow the inner hair cells in the ear to communicate with the hearing nerve. Approximately 20,000 people across the UK, Germany, France, Spain, Italy and UK and are deaf due to a mutation in the OTOF gene. Children with a variation in the OTOF gene often pass the newborn screening, as the hair cells are working, but they are not talking to the nerve. It means this hearing loss is not commonly detected until children are 2 or 3 years of age – when a delay in speech is likely to be noticed. Professor Manohar Bance added: “We have a short time frame to intervene because of the rapid pace of brain development at this age. Delays in the diagnosis can also cause confusion for families as the many reasons for delayed speech and late intervention can impact a children’s development.”

 

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On 3/28/2024 at 7:17 PM, BacktoCricaddict said:

Xenotransplants (organ transplants from other species to humans) - and sometimes even human-to-human transplants - can be very risky due to a violent immune rejection response in our bodies. For this reason, compatible kidney donors are so difficult to find and 1000s of patients die each year without the opportunity to get a transplant.  The following research may provide a solution:

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https://www.massgeneral.org/news/press-release/worlds-first-genetically-edited-pig-kidney-transplant-into-living-recipient

 

Today, Massachusetts General Hospital (MGH), a founding member of the Mass General Brigham health care system, announced the world’s first successful transplant of a genetically-edited pig (porcine) kidney into a 62-year-old man living with end-stage kidney disease (ESKD). The patient, Mr. Richard ‘Rick’ Slayman of Weymouth, Mass., is recovering well at MGH and is expected to be discharged soon.  “The real hero today is the patient, Mr. Slayman, as the success of this pioneering surgery, once deemed unimaginable, would not have been possible without his courage and willingness to embark on a journey into uncharted medical territory.

 

“The success of this transplant is the culmination of efforts by thousands of scientists and physicians over several decades. We are privileged to have played a significant role in this milestone. Our hope is that this transplant approach will offer a lifeline to millions of patients worldwide who are suffering from kidney failure,” Kawai said.

 

The pig kidney was provided by eGenesis of Cambridge, Mass., from a pig donor that was genetically-edited using CRISPR-Cas9 technology to remove harmful pig genes and add certain human genes to improve its compatibility with humans. Additionally, scientists inactivated porcine endogenous retroviruses in the pig donor to eliminate any risk of infection in humans. Over the past five years, MGH and eGenesis have conducted extensive collaborative research, with the findings published in Nature in 2023.

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Ethical concerns regarding taking another mammal's life to save a human's life may be raised (and will make for interesting debate), but if the patient was oneself or one's loved one, I'd imagine there would be no dilemma.

 

 

 

 

Sadly, this patient didn't survive for more than 2 months. Xenotransplantation of kidneys has a long way to go before it can supplement or replace human transplants which have  a 90% 12-month survival rate. The challenge with human transplants is finding a match. 

 

https://www.statnews.com/2024/05/12/xenotransplantation-crispr-pig-kidney-transplant-patient-dies/

 

 

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Posted (edited)
2 hours ago, BacktoCricaddict said:

 

 

 

 

Sadly, this patient didn't survive for more than 2 months. Xenotransplantation of kidneys has a long way to go before it can supplement or replace human transplants which have  a 90% 12-month survival rate. The challenge with human transplants is finding a match. 

 

https://www.statnews.com/2024/05/12/xenotransplantation-crispr-pig-kidney-transplant-patient-dies/

 

 

yes, sad news regd the pig-man chimera. long way to go still

Edited by Vijy
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4 hours ago, Real McCoy said:


the disease has a new strain called vaccine acquired auto immune deficiency syndrome 

 

https://pubmed.ncbi.nlm.nih.gov/34957554/

Hmm.. its scary that vaccination has given rise to immune deficiency. As you or someone mentioned, all I can hope is that I got a placebo.... 

 

But still the question remains... we dont see many news articles on AIDS/HIV compared to 2000s. Is it on the vane? 

 

 

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1 hour ago, diga said:

Hmm.. its scary that vaccination has given rise to immune deficiency. As you or someone mentioned, all I can hope is that I got a placebo.... 

 

But still the question remains... we dont see many news articles on AIDS/HIV compared to 2000s. Is it on the vane? 

 

 

Maybe its not that scary anymore to the american public with the arrival of coronavirus. With lockdowns in place, everyone was glued into their TVs and social media regadring news of the virus. People went into panickstan. It was surreal. Who knows AIDS may have been a precursor to the recent epidemic. Some people took vaccination (Is it the heptatitis injection?) that time too because they were more prone to illicit sex.

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Posted (edited)
On 5/12/2024 at 7:59 PM, diga said:

@BacktoCricaddict We dont hear much on HIV/AIDS nowadays.. why

 

Over the past 2.5 decades, highly effective anti-retroviral therapies (HAART) have been developed, resulting in a drastic drop in mortality rates, viral load, and new infections. Here is some mortality data. It is not over by any means, but it is definitely on the wane. Nowadays, even Pre-infection preventative drug therapies are being used to successfully keep transmission down.

 

I think the reason the media is not covering it much - and this is unfortunate - is because the media is acting like it is over based on the current mortality rates in the US, which are very low compared to their peak in 1995-97.

 

https://www.cdc.gov/hiv/pdf/library/slidesets/cdc-hiv-surveillance-mortality-2019.pdf.

 

In other countries too, especially Sub-Saharan Africa, it has improved a lot, but is still quite bad from an absolute numbers perspective. But since it is not rampant in the US, media has no interest.

 

Also note that vaccine development has been very difficult because HIV has turned out to be extremely tricky to work with.

 

hivaids-deaths-and-averted-due-to-art.pn

 

 

Edited by BacktoCricaddict
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On 5/12/2024 at 9:14 PM, Vijy said:

yes, sad news regd the pig-man chimera. long way to go still

 

Here are excerpts from a good article about the challenges ahead.

https://www.nature.com/articles/d41586-024-01453-2


 

Quote

 

The three procedures offered hope to desperately ill people who had run out of options. And researchers say that they have learnt valuable lessons from the first pig-organ transplants into humans, on topics ranging from the types of medication that recipients need to the amount of testing that pig organs must undergo. “This is not an insolvable problem,” Montgomery says. “I’m encouraged that we’re as far along as we are.”

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The use of organs from other species in humans, called xenotransplantation, has long been a dream of surgeons because of the chronic shortage of suitable human organs. Researchers have homed in on pigs as a donor species, in part because their organs’ size and anatomy resemble those of humans.

Data from non-human primates that have received pig organs are promising: a study1 published in 2023 reported that five monkeys each survived for more than one year after receiving transplanted pig kidneys.

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In the weeks before he died, Bennett had an infection, so physicians gave him an immune-boosting therapy made up of pooled antibodies from thousands of donors. Scientists later found that some of the antibodies had reacted to the pig organ2, meaning that the treatment could have exacerbated Bennett’s condition. Since then, Mohiuddin has worked with local blood banks to develop ways to screen for reactive antibodies.

Another possible explanation for Bennett’s limited survival is a latent infection of the transplanted heart with a pathogen called porcine cytomegalovirus, which might have been activated and then harmed the heart. The virus was found in the organ after Bennett’s death but was missed by tests before the transplant, signalling that more sensitive tests must be used to screen organs, Mohiuddin says.

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In the fourth and latest xenotransplant in a live person, Montgomery and his team tried a new approach using the thymus, an immune-related organ that could help teach the recipient’s immune system to recognize the pig organ. They grafted the source pig’s thymus to the kidney and then transplanted both into 54-year-old Lisa Pisano on 12 April. They used a pig with only a single genetic modification, which could make scaling up the production of pig organs easier, Montgomery says. Pisano remains in stable condition in hospital, he adds.

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There is still much more to be learnt, he says. In a forthcoming study and in one published today in Nature Medicine3, Montgomery and his colleagues analysed tissue samples from two people who had been declared legally dead before receiving a pig heart and found that at the cellular level, rejection of xenotransplanted organs looks “very different” from that of organs transplanted from a human donor, Montgomery says. He adds that these findings could help researchers to anticipate rejection and develop tailored immunosuppressant regimens for future surgery.

 

 

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This is the absolute brilliance of science and technology at work to make human lives better.

 

https://spectrum.ieee.org/prosthetic-leg

 

Quote

The Best Bionic Leg Yet. A surgical procedure and muscle-sensing electrodes allow neural control of a prosthetic limb

 

For the first time, a small group of patients with amputations below the knee were able to control the movements of their prosthetic legs through neural signals—rather than relying on programmed cycles for all or part of a motion—and resume walking with a natural gait. The achievement required a specialized amputation surgery combined with a non-invasive surface electrode connection to a robotic prosthetic lower leg. A study describing the technologies was published today in the journal Nature Medicine.

 

“What happens then is quite miraculous. The patients that have this neural interface are able to walk at normal speeds; and up and down steps and slopes; and maneuver obstacles really without thinking about it. It’s natural. It’s involuntary,” said co-author Hugh Herr, who develops bionic prosthetics at the MIT Media Lab.“Even though their limb is made of titanium and silicone—all these various electromechanical components—the limb feels natural and it moves naturally, even without conscious thought.”

 

The approach relies on surgery at the amputation site to create what the researchers call an agonist-antagonist myoneural Interface, or AMI. The procedure involves connecting pairs of muscles (in the case of below-the-knee amputation, two pairs), as well as the introduction of proprietary synthetic elements.

 

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