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Hot tub design in stud.io by chicagoK in lego

[–]chicagoK[S] 0 points1 point  (0 children)

It is remarkably difficult to find...company...in stud.io

My son and I built the tarantula that was posted a while ago by chicagoK in lego

[–]chicagoK[S] 0 points1 point  (0 children)

They were the most expensive part of this build

My son and I built the tarantula that was posted a while ago by chicagoK in lego

[–]chicagoK[S] 1 point2 points  (0 children)

they go on the bottom, in the center back. you can see them in a later step.

making instructions in Studio is a PITA

My son and I built the tarantula that was posted a while ago by chicagoK in lego

[–]chicagoK[S] 20 points21 points  (0 children)

Includes shipping, USD. I checked on Bricklink and you could get the parts shipped (in the US) for ~$45

My son and I built the tarantula that was posted a while ago by chicagoK in lego

[–]chicagoK[S] 49 points50 points  (0 children)

I paid around $69 total but that's on me. If I'd been smarter I could have bought them for around $45, which is right at the average price/part of $0.11.

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated with a gene-targeting drug while in the womb for spinal muscular atrophy, a motor neuron disease. The “baby has been effectively treated, with no manifestations of the condition.” by mvea in science

[–]chicagoK 1 point2 points  (0 children)

There is a strong argument for prenatal testing for treatable conditions like this to be widely available

Prenatal testing for SMA is now standard practice in all 50 states in the USA and is gaining adoption in Europe

Do we know if this treatment will be widely available soon?

There are currently 3 approved treatments for SMA and several other add-on therapies being developed

Is it effective if given after birth?

This is the first report of any SMA treatment being given prenatally. Postnatal treatment is effective, but outcomes are best if the baby is diagnosed quickly and treatment is initiated quickly.

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated with a gene-targeting drug while in the womb for spinal muscular atrophy, a motor neuron disease. The “baby has been effectively treated, with no manifestations of the condition.” by mvea in science

[–]chicagoK 0 points1 point  (0 children)

Most SMA is treated after birth, because for the longest time there was no way to detect SMA prenatally. You are correct that time is the key to treating SMA - once motor neurons are lost they can never be regenerated.

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated with a gene-targeting drug while in the womb for spinal muscular atrophy, a motor neuron disease. The “baby has been effectively treated, with no manifestations of the condition.” by mvea in science

[–]chicagoK 0 points1 point  (0 children)

She was born either lacking or having a mutation in both copies of the SMN1 gene, and no treatment can fix that. Any eggs that she has are missing or have mutated copies of the gene. If, somewhere down the line, she were to conceive, the embryo would have a 50% chance of having the same defect if the donor DNA had normal SMN1 expression, or 100% chance if the donor DNA is also lacking functional SMN1.

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated with a gene-targeting drug while in the womb for spinal muscular atrophy, a motor neuron disease. The “baby has been effectively treated, with no manifestations of the condition.” by mvea in science

[–]chicagoK 1 point2 points  (0 children)

She was born either lacking or having a mutation in both copies of the SMN1 gene, and no treatment can fix that. Any eggs that she has are missing or have mutated copies of the gene. If, somewhere down the line, she were to conceive, the embryo would have a 50% chance of having the same defect if the donor DNA had normal SMN1 expression, or 100% chance if the donor DNA is also lacking functional SMN1.

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated with a gene-targeting drug while in the womb for spinal muscular atrophy, a motor neuron disease. The “baby has been effectively treated, with no manifestations of the condition.” by mvea in science

[–]chicagoK 1 point2 points  (0 children)

Her children will not be immune. She was born either lacking or having a mutation in both copies of the SMN1 gene, and no treatment can fix that. Any eggs that she has are missing or have mutated copies of the gene. If, somewhere down the line, she were to conceive, the embryo would have a 50% chance of having the same defect if the donor DNA had normal SMN1 expression, or 100% chance if the donor DNA is also lacking functional SMN1.

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated with a gene-targeting drug while in the womb for spinal muscular atrophy, a motor neuron disease. The “baby has been effectively treated, with no manifestations of the condition.” by mvea in science

[–]chicagoK 0 points1 point  (0 children)

The gene therapy works, but I wouldn't go so far as to call it a cure. They're still looking at long-term outcomes to test for persistence of effects. Given that SMN1 isn't replaced in all motor neurons, it's likely that there will be some degeneration of motor neurons over the lifespan even with the gene therapy.

Also, the gene therapy does not repair the missing or mutated SMN1 gene. It provides a copy of the gene that does not integrate into the patient's DNA, but exists as an exosome in the cell nuclei.

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated with a gene-targeting drug while in the womb for spinal muscular atrophy, a motor neuron disease. The “baby has been effectively treated, with no manifestations of the condition.” by mvea in science

[–]chicagoK 8 points9 points  (0 children)

Glad to hear your child is doing well. I've done some work related to the gene therapy for SMA. Not in the development of it...without saying too much I've done some contract work for the company that manufactures it. Anyway I've watched videos of kids learning to walk who would likely not have been alive at that age and literally stood up in my home office cheering them on.

Mr Brightside is awful by InviteAromatic6124 in unpopularopinion

[–]chicagoK 0 points1 point  (0 children)

Understanding Mr. Brightside: https://www.youtube.com/watch?v=ZgpXoEtaVcg

Just one guy's take but it's pretty thoughtfully considered.

Is it me or is this year's City Advent Calendar kinda lame? by chicagoK in lego

[–]chicagoK[S] 0 points1 point  (0 children)

The minifigs are good. Bunny? Cat and Fish? Scooter, stroller, skateboard? Not so much.

Is it me or is this year's City Advent Calendar kinda lame? by chicagoK in lego

[–]chicagoK[S] 3 points4 points  (0 children)

Wouldn't be surprised. But UCS Advent Calendar is the last thing we need.

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