Gene Editing to save a life

Gene Editing
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I absolutely agree, yet am trying my best so atleast I dont regret that I did not do my best, though I could have.

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Hi @Suhasini

Any progress that has been made on this. Recently there was a paper on mitochondrial gene editing but that wasnt for MNGIE. May be you can connect with the authors and check the possibility. Share your Email address on PM & i can send that to you.

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Thanks for help again but this editing is not Mitochondria its chromosome 22.There is a mutation of G to C in him ,nucleotide number 892 on chromosome 22.The very typically TYMP gene.and this alters the amino acid 298 from Glycine to Arginine.The two parents are heterozygous so this kid becomes homozygous for the mutation. So this editing in Mitochondria in my opinion may not work.However can definitely ask the authors if the can guide.Kindly share te paper on suhasinibhatnagar@gmail.com Thanks and regards Suhasini

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https://innovativegenomics.org/ is the home of Jennifer Doudna, Nobel Laureate for CRISPR. You may want to reach out to them. I have not read the entire thread, so I apologize I am late responding. I hope the patient can be saved.

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Thanks a lot Marcia,

Had tried to talk to Jennifer through a different email id. But no reply.Anyways shall use this too and see.Thanks for the help.Yes I understand, cannot read everything especially when you have things on multiple windows.

Thanks again

Regards

Suhasini

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Its becoming very difficult to reach out to people and get them to take initiative in today’s time. One of my batchmates who is at UC has expertise in Gene editing and is a co-founder for a Novel Gene Editing therapy Company…. yet I wasn’t able to get her to reply back for a positive/ hope/ solutions despite reaching out multiple times.

I think in the modern times, science has become more of a switch to Publish or Showcase than to just step up and help directly. This is actually the time When we need DORA movement back.

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Did DORA movement go away? Its unbelievable she didn’t respind. Perhaps she didnt get the request?

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Yes there was no response.Thanks anyways shall use this link and lets see what is the reply.The family got very depressed as they lost their elder daughter and now can see, their son going away.

Anyways shall write and see.

Shall keep you posted.

Regards

Suhasini

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Hello Nishan ,

I agree the pressure to perform is so high that its difficult to concentrate on yourself also.I can understand, when I was doing my Ph.D., had seen this first hand, never mind,its on everybody so only left the field.said good bye.Happy to change to Chemistry but somewhat similar still.

The family got very disturbed, after the death of their elder daughter and they can their younger son detriorating.Never mind, if you can tell me the name, may be I can try writing to them.But even my experience has been so bad that now this is there on my head but not a priority.

Your friend shall reply suppose he needs something( which he may not) so just keep trying.my mail id is suhasinibhatnagar@gmail.com

Regards

Suhasini

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Thank you. I think Innovative Genomics Institute is a resource. What is the disease?

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MNGIE or Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease.

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32

Hello Nishan

DORA isn’t dead though it has lost its momentum and has been sidelined. Many institutions have signed DORA, but turning the principles into actual operating norms (in hiring, promotion, funding decisions) is often harder. Old habits, bureaucratic inertia, and metric‑driven incentives (for prestige, ranking, funding) still exert strong pull.

Wiley has rolled out design changes to journal metric pages, showing more than just Impact Factor and adding alternate metrics.

But there is ongoing debate: if you de-emphasize impact factor, what specific metrics or qualitative indicators should replace it? How do you evaluate societal impact, open science, reproducibility, or teaching and service contributions? Getting those right (and fair) is challenging and probably why DORA has been side lined.

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@Suhasini Suhasini

Any positive progress on this from any end? We’re you able to get Thymidine Kinase to be used as experimental Therapy?

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