Israeli start-up company Yade Galil - which focuses on developing innovative technologies and approaches for the treatment of incurable genetic diseases, has received approval to begin in-vitro experiments to be held at Bnei Zion Hospital for a unique technology for the genetic treatment of Duchenne muscular dystrophy
Israeli start-up company Yade Galil - which focuses on developing innovative technologies and approaches for the treatment of incurable genetic diseases, has received approval to begin in-vitro experiments to be held at Bnei Zion Hospital for a unique technology for the genetic treatment of Duchenne Muscular Dystrophy
The technology, developed by Dr. Gidi Shani, the scientific director of the startup and Nimi Langer, the startup's director and himself the father of a child with Duchenne disease, is based on a breakthrough technology that has already shown the feasibility of restoring muscle function in model animals and humans. Prof. Stephen Wilton's groundbreaking article formed the basis for the innovation offered by Yeda Galil.
Duchenne muscular dystrophy (DMD) is a severe and debilitating genetic disease characterized by the gradual destruction of muscle tissue. It is one of the most common genetic diseases and is caused by a defect (mutation) in the gene for the production of dystrophin, an essential component of the structural infrastructure in muscle cells. The frequency of the defect in the gene located on the X chromosome is 1 in every 3,500 male births and translates into a worldwide incidence of approximately 200,000 patients, mainly children, for whom there is no hope of a cure. The disease is diagnosed as a lack of muscle function at the age of 1-2 years, which manifests itself and develops into a loss of motor function and a disability requiring a wheelchair at the age of 8-9 years. Ultimately, the disease leads to death from respiratory or cardiac failure at a young age - on average 26 years.
The project proposes the development of an antisense oligonucleotide AOs cocktail for the purpose of skipping gene parts (exons) in the defective gene. In Duchenne's disease, skipping of exons during the cutting of the introns from the pre-mRNA (see figure) allows the orderly reading sequence of the gene to be restored and thus enables the production of the required protein.
In the case of applying the technology to Duchenne patients, there will be a change in the disease from a catastrophic clinical condition of Duchenne to a clinical diagnosis of another disease, "Becker". In cattle disease there is a defect in the dystrophin gene, but the genetic reading sequence is preserved and a partial production of dystrophin takes place (see figure). Although the production of the protein is still damaged, Duchenne patients can in their new state - "cattle", lead a full life.
"We have a commitment to finding treatments and potential cures for this devastating disease and we are ready and willing to advance this ambitious program." Says Nimi Langer, co-founder of Yeda Galil, adding that "by linking and operating a network of international experts in gene therapy together with leading doctors and researchers in muscular dystrophy, and through meteoric progress in the field of genetic mapping and awareness of rare diseases, we hope to leverage scientific excellence towards Clinical studies in Duchenne muscular dystrophy patients. ".
Galil knowledge in the process of presenting the project to groups of investors for the purpose of financing and developing this technology and other technologies in the field - everything is designed to improve the lives of patients and their families with all existing muscular dystrophy diseases.
Yeda Galil has also begun recruiting Duchenne patients and their families who wish to take part in the test-tube experiment they will conduct in Bnei Zion-Haifa under the direction of Prof. Zvi Borochovitz - senior geneticist, director of the Shimon Winter Institute - Human Genetics, Bnei Zion Medical Center.
Late clinical follow-up is planned to be done in collaboration with Prof. Yoram Nebo, senior pediatric neurologist, director of the pediatric neurology unit. Hadassah University Hospitals, specialist in Duchenne disease.
26 תגובות
Ofer Petah Tikva
Those who scatter chaff are people who "believe" that at best they give false hope, and at worst they prevent medical treatment.
Michael is just right.
If there is a God then he is the source of the problem and not the source of the solution.
Hila
I wish your family to be healthy!!!!
The most important thing is confidence in your doctor. If you don't trust him completely, then you can contact another doctor, who is more expert in this specific field.
You can also search for information on the Internet, but beware of false information, from all kinds of charlatans such as homeopaths, acupuncture, religious people, etc. They can't help your child!!!!!! And you will be surprised to hear that in most cases this is not their intention either! There are very reliable websites from which you can learn a lot, and then come with specific questions to your doctor.
And again - be healthy 🙂
rejuvenation
No acupuncture and no shoes. Especially not acupuncture…. Consult a real doctor and not charlatans.
September 2013
Hello everyone, my husband and I had the sky fall on us yesterday, the doctor is afraid that the child has Duchenne muscular dystrophy, tomorrow my child is having the test, the result will arrive in another month and a half. what should we do
Dear Mr. Michael Rothschild
I read your response to Oz and after a lot of deliberation I found it appropriate to respond.
First I will state that I am not religious.
This article usually includes people who are somehow related to this cursed disease, it could be the patients, family members, friends, caregivers, the developers of the disease, etc.
This is not the place to bother and comment on a matter of faith.
A man by his faith shall live. Oz wanted to get out what was on his heart and hope for a cure soon and that's how he chose to respond. In his belief, God gives intelligence and knowledge to that professor who develops the medicine - I guess that according to the cross-section of the population there is another high percentage who believes this and therefore your response is not appropriate at all.
Keep these comments to yourself in articles like this. I hope very much for you that you don't have sick people around you with this disease which can also cause you to raise your hands to heaven and seek salvation there.
I agree with the things said by the anonymous user. When there is no case of Duchenne in the family and it is discovered for the first time, then the test is carried out regarding additional births. It is a shame that tests for muscular dystrophy are not carried out comprehensively for all mothers.
We need to anticipate a cure for the blow, and invest awareness in the public about how to be careful of reaching the unbearable situation,
Even before marriage.
Can acupuncture in combination with an organic diet be beneficial for Duchenne patients in the early stages of the disease and for children aged two years
short update,
The first stage of taking skin biopsies from donor patients has been successfully completed thanks to Prof. Borochovitz and Prof. Wilton for their great commitment. Thanks to all applicants. We will all keep our fingers crossed for the success of proving the effectiveness of the oligonucleotide cocktail and progress in finding an even partial solution to Duchenne's disease. I will also try to update our website http://www.yedagalil.com for your presence.
Best regards
capillary
post Scriptum
At this stage you can still apply to participate in the experiment
Adi, thanks for the email and the questions
According to what is known to researchers so far, the effectiveness of exon skipping is higher in young patients.
How many years will it be suitable for?
Not sure I understood the question. The cocktail is designed to be injected for the duration of the patient's life.
Will replace steroids?
I do not know. It is possible to think whether cattle patients, the phenotype to which exon skipping aspires, are taking steroids? Some yes and some no. But again I really don't know the answer. I know that no one in the world knows the answer with enough certainty to tell you yes or no.
Sincerely,
capillary
I would like to ask if the cocktail will be suitable for each stage of the disease and for how many years it will be suitable. Also, will the cocktail replace the steroids.
Thanks again for your question
Again I am not the scientist but the project manager.
And yet to your question... on the face of it, it seems that damage to exon 58 leads to a Duchenne phenotype (damage to the reading sequence of the gene and an almost complete lack of production of the important protein-dystorphin) although there are always exceptions and the phenotype cannot always be predicted from the genotype.
Regarding the attempts with the exon skipping method for a defect in exon 58, it depends on the mutation. A condition of lack (58) usually requires one type of exon skipping and a condition of a point defect within the exon (58) requires, as far as I know, removal of two exons. I don't know about the case of duplication of exon 58, but this is also theoretically possible according to what I know.
But I am far from being the expert or having the experience, so all my answers are with a very limited guarantee, unfortunately.
Please, if this is a personal case, you can contact me directly for a consultation and I can direct your question to the expert partners as well. B racha and have a good week Nimi 0523259284
Nimi, thanks for the answer. Another question, what happens if the damage is to exon 58
Esther, thank you for your question
In my optimistic but possible estimation, within 3-4 years Yeda Galil will offer a cocktail to the first group of patients. The aforementioned drug will not cure the disease, but will shift the disease from a "Duchen's" phenotype to a "Becker" phenotype (as is currently in advanced research stages by the Prosensa and Avibiopharma companies for certain mutations in which skipping the appropriate exon 51 restores the reading sequence to the gene).
How many years will it take to get to the cure?
courage:
You wrote "with the help of our Father in Heaven" and therefore I found it appropriate to clarify that our Father in Heaven is not involved in the development of medicines and if he has any contribution at all to the topic of the article, it is expressed in the fact that people are sick.
Humans are the ones who develop medicines and they do it without the help of our father in heaven or our mother on earth.
What does it mean?
The contribution of our heavenly Father is expressed in the very fact that people are sick.
Humans are the ones who will correct his mistakes.
With the help of our heavenly Father
Amen and amen
capillary
May it be and you will succeed
Because he who saves one soul is as if he saved a whole nation
Hello again from me Nimi, the manager of the project mentioned in the article
My email is nimilanger@gmail.com
It may be easier to get by email than by phone
I would love to be heard.
Thanks to all those interested
Hello Nimi
My name is Oz and I have Duchenne muscular dystrophy. I am 23 years old
I would love to know more about the subject
cohenoz1988@gmail.com
Thank you
I hope they succeed as soon as possible
Dear readers, if you know Duchenne patients and their families who would be interested in hearing more about the experiment and the possibility of joining, I would be happy to hear from you by email or by phone at 04-9958630
Successfully!
Well done