EM Midlands Railway now in BSL

 

The battle against Rogue genes that deafen.

His father's voice, the sounds of passing cars and scissors clipping his hair: An 11-year-old boy is hearing for the first time in his life after receiving a breakthrough *gene therapy.

The Children's Hospital of Philadelphia (CHOP) which carried out the treatment -- a first in the United States -- said in a statement Tuesday the milestone represents hope for patients around the world with hearing loss caused by genetic mutations. Aissam Dam was born "profoundly deaf" because of a highly rare abnormality in a single gene. "Gene therapy for hearing loss is something that we physicians and scientists in the world of hearing loss have been working toward for over 20 years, and it is finally here," said surgeon John Germiller, director of clinical research for CHOP's otolaryngology division.

"While the gene therapy we performed in our patient was to correct an abnormality in one, very rare gene, these studies may open the door for future use for some of the over 150 other genes that cause childhood hearing loss."

In patients like Aissam, a defective gene prevents the production of otoferlin, a protein necessary for the "hair cells" of the inner ear to be able to convert sound vibrations into chemical signals that are sent to the brain. Otoferlin gene defects are highly rare, accounting for 1 - 8 percent of hearing loss present from birth.

On October 4, 2023, he underwent a surgical procedure that involved partly lifting his eardrum and then injecting a harmless virus, which had been modified to transport working copies of the otoferlin gene, into the internal fluid of his cochlea. As a result, the hair cells began making the missing protein and functioning properly. Almost four months since receiving the treatment in one ear, Aissam's hearing has improved to the point he only has mild-to-moderate hearing loss and he is "literally hearing sound for the first time in his life,"  said the statement.

The New York Times reported that despite being able to hear, Aissam, who was born in Morocco and later moved to Spain, may never learn to talk, as the brain's window for acquiring speech closes around the age of five. The US Food and Drug Administration, which greenlighted the study, wanted to start the research on older children first, for safety reasons. The trial, sponsored by Akouos, Inc, a wholly owned subsidiary of Eli Lilly and Company,  is one of several underway or about to start in the United States, Europe and China, where a handful of other children have already been reportedly cured.

"As more patients at different ages are treated with this gene therapy, researchers will learn more about the degree to which hearing is improved and whether that level of hearing can be sustained over many years," Germiller said.

*There is no specific number of genes that cause deafness as the condition can be caused by mutations in various genes. According to scientific research, over 100 different genes have been identified to be associated with genetic hearing loss. These genes can be responsible for different types of hearing loss, including syndromic (associated with other medical conditions) and non-syndromic (isolated hearing loss). However, the exact number of genes involved in causing deafness is still being studied, and new genes continue to be discovered.

STOP PRESS: CHINA 6 deaf children cured by 1 injection.

BSL GCSE may be a non-starter

BSL GCSE welcomed but 'will be a struggle' says Manx Deaf Society CEO  (Isle of Man News.)

Not thought out, un-resourced, maybe impracticable?

Lucy Buxton.

The subject will be rolled out in schools in England from 2025 The Manx Deaf Society says it wants to see British Sign Language offered as a GCSE option but believes there are issues to iron out before it could be correctly implemented.  Chief executive Lucy Buxton told Manx Radio it's easier to roll it out there as it's already considered an official language - whereas it isn't on the Island:

Lucy Buxton: "Here and in the UK, in England, they are going to struggle to find qualified teachers who are capable of teaching the BSL GCSE. As such, I haven't even seen the syllabus so I don't know what's included at the moment when you learn BSL.

If you take examinations and qualifications, so you're taking a registered course, you have to do a certain minimum number of hours and there are standards that are applied. And ideally you are taught by a member of the deaf community, so someone who uses sign language themselves. It's their first language, or possibly somebody who is a close family member of someone who uses sign language and the number of teachers qualified teachers in England who are qualified to teach BSL is shockingly small. I think from memory there are about 1000 teachers and about 2000 secondary schools, so that's going to give you an indication of how difficult it is.

But here on the Island, I'm not aware of anyone who is a registered, qualified British Sign language teacher. So when we offer courses, we offer a level one and a level 2. We work with a deaf teacher from the UK. I don't know how schools are going to manage to do that without somebody here to actually be able to deliver that. 

Chanelle Sukhoo: How beneficial would it be if we had something like that here? 

Lucy Buxton: You never know who is going to find themselves with hearing loss, and BSL can be helpful for a lot of people. 

Chanelle Sukhoo: Have you noticed more people interested in learning BSL? 

Lucy Buxton: Yes, there are definitely more people interested in learning BSL, but the actual number of people who use BSL as their first language is decreasing here on the Island. It would be lovely to have a thriving growing population of British Sign language users. However, the support that is needed for that community, it's not just being able to use the language, you have to think that it needs some sort of formal legal recognition. You also need all the other support that are in place. For example, if a BSL user wants to go and make a will and see their solicitor, how they going to manage to do that?  You need an interpreter. The number of sign language users that we have at the moment aren't enough to have somebody working here full time as interpreter too.

We are interested to knowing what's happening across the water, and it's not something that I think we should rush in too quickly here. I would like to see how things develop in the UK, but obviously if people are interested in becoming a BSL teacher, then please get in touch.