5 ms·

While the name might be cute to a researcher, it puts clinicians in a difficult position. Imagine facing parents and having to break to them the terrible news t

While the name might be cute to a researcher, it puts clinicians in a difficult position. Imagine facing parents and having to break to them the terrible news that their child has a problem with their Sonic the Hedgehog gene. What an awful injection of whimsy when none is welcome.

deleted 4y ago
[deleted]
jacobriis 4y ago
"While the name might be cute to a researcher, it puts clinicians in a difficult position... What an awful injection of whimsy when none is welcome." [1] I can't imagine being placed in this position where I may have to occasionally abbreviate the name of this protein SHH. Very difficult, just awful. Not welcome!
matheusmoreira 4y ago
Just call it the SHH gene. This level of detail is hardly necessary to begin with.
- klyrs 4y ago
  I don't know about you, but when my doctor throws a bunch of acronyms at me, I always ask what they mean. If nothing else, it slows down the torrent of information enough for me to process what I'm hearing. But I know enough greek and latin roots that it usually helps my memory file the information away for future retrieval. Sometimes doctors get offended at having to explain what's going on to the patient. Those are bad doctors.
  - matheusmoreira 4y ago
    > Sometimes doctors get offended at having to explain what's going on to the patient. I didn't mean it that way. It's all about using an appropriate language and level of detail for each person. It's fun to talk about how Sonic the Hedgehog was immortalized in the human genome here on HN but in a clinical setting it's ultimately irrelevant and counterproductive. Some people are curious and ask lots of questions. Many will be confused and tune you out completely if you start explaining technical stuff. It's the doctor's job to help them understand so they can make informed decisions. This is accomplished by tailoring the message to each recipient.
beowulfey 4y ago
That’s the drosophila field for you. All about the silly names
jamal-kumar 4y ago
The gene has been linked to a condition known as holoprosencephaly, which can result in severe brain, skull and facial defects, causing a few clinicians and scientists to criticize the name on the grounds that it sounds too frivolous. It has been noted that mention of a mutation in a sonic hedgehog gene might not be well received in a discussion of a serious disorder with a patient or their family.[17][89][90] This controversy has largely died down, and the name is now generally seen as a humorous relic of the time before the rise of fast, cheap complete genome sequencing and standardized nomenclature.[91] The problem of the "inappropriateness" of the names of genes such as "Mothers against decapentaplegic", "Lunatic fringe", and "Sonic hedgehog" is largely avoided by using standardized abbreviations when speaking with patients and their families.[92] https://en.wikipedia.org/wiki/Sonic_hedgehog_protein#Former_controversy_surrounding_name https://en.wikipedia.org/wiki/Sonic_hedgehog_protein#Former_...
uoaei 4y ago
It sounds like a great tool to use to soften the blow when telling the child. "Hey Timmy, we got our results back, and we found out you have the Sonic the Hedgehog gene. It might be scary but if you can be as brave and tough as Sonic everyone will be very proud of you." Try to remember what it is like to be a child.
- tadfisher 4y ago
  I would hope they have the SHH protein, all animals do.
  - uoaei 4y ago
    Sorry, meant to refer to mutations in the gene, as in GGP's comment.
- HarryHirsch 4y ago
  I am vicarially embarrassed for you because of your lack of tact and life experience.
  - uoaei 4y ago
    Based on my vote count I think your opinion represents the minority.
    - HarryHirsch 4y ago
      As I said, too many techbros without tact or life experience on this site. Geneticists moved away from silly names because physicians found that mothers who had just given birth to a severely disabled child did not take the silly names well. It's one thing to work in fly genetics and another to be talking to a parent whose child has a mutation in the human homolog. This is actual experience from clinicians working in genetic counseling. I am still embarrassed for you.
      - uoaei 4y ago
ryanmcbride 4y ago
I really doubt any clinician would say the full name when breaking the news. They'd probably just abbreviate it.
- abcc8 4y ago
  Exacrly, they would say the test detected a pathogenic variant in the SHH gene.
renewiltord 4y ago
Sometimes I wonder if I am a normal human being, and then I realize that I'm not. I must be some kind of superhuman. Less than a year ago I was told I had a C6 and C7 fracture, a manubrial fracture, a scapular fracture, a few metacarpal fractures, rib fractures, a splenic laceration. Despite the Corvette C6 and C7 being some of my favourite cars, when I was eventually discharged I could not find it in me to take my AR-15 to SF Gen and unleash retribution for the horrendous crime the doctors had done to me. In addition, a man ubrial fracture? So I'm not a man anymore?! Ugh. Urge to kill rising!
bilsbie 4y ago
You could say that about almost anything though. Why make life sterile and boring just because things can be good or bad. For example ships can’t have fun names because they occasionally sink?
- s0rce 4y ago
  What is the titanic was Boaty McBoatface!
willcipriano 4y ago
"I'm sorry, it's a problem with your Sonic the Hedgehog gene. In layman's terms, your gonna go fast."
blackencino 4y ago
Our daughter was diagnosed at age 4 with Gorlin's Syndrome, which is caused by a defect in this gene. She has spinal deformities similar to spina-bifida, and thousands of Basal Cell Carcinomas (BCC's), which are skin cancer, but with a lower-case c. The experience of being given this news was numbing, and in light of all the information we received, a cute name for the gene involved barely registered one way or the other. My wife joined the board of the Gorlin's Syndrome Alliance, which is a non-profit organization that helps people with this disease find help, and also tries to push medical science forward in ways that can help. Their mascot is a hedgehog (for obvious reasons) wearing a hat - because people who have this condition have to avoid UV exposure all the time. If you're interested, please check them out: https://gorlinsyndrome.org/ https://gorlinsyndrome.org/ (Currently suffering slow server). A bit of whimsy isn't the worst thing, when the news is otherwise pretty hard.

deleted 4y ago

[deleted]

jacobriis 4y ago

"While the name might be cute to a researcher, it puts clinicians in a difficult position... What an awful injection of whimsy when none is welcome." [1] I can't imagine being placed in this position where I may have to occasionally abbreviate the name of this protein SHH. Very difficult, just awful. Not welcome!

matheusmoreira 4y ago

Just call it the SHH gene. This level of detail is hardly necessary to begin with.

klyrs 4y ago
I don't know about you, but when my doctor throws a bunch of acronyms at me, I always ask what they mean. If nothing else, it slows down the torrent of information enough for me to process what I'm hearing. But I know enough greek and latin roots that it usually helps my memory file the information away for future retrieval. Sometimes doctors get offended at having to explain what's going on to the patient. Those are bad doctors.
- matheusmoreira 4y ago
  > Sometimes doctors get offended at having to explain what's going on to the patient. I didn't mean it that way. It's all about using an appropriate language and level of detail for each person. It's fun to talk about how Sonic the Hedgehog was immortalized in the human genome here on HN but in a clinical setting it's ultimately irrelevant and counterproductive. Some people are curious and ask lots of questions. Many will be confused and tune you out completely if you start explaining technical stuff. It's the doctor's job to help them understand so they can make informed decisions. This is accomplished by tailoring the message to each recipient.

beowulfey 4y ago

That’s the drosophila field for you. All about the silly names

jamal-kumar 4y ago

The gene has been linked to a condition known as holoprosencephaly, which can result in severe brain, skull and facial defects, causing a few clinicians and scientists to criticize the name on the grounds that it sounds too frivolous. It has been noted that mention of a mutation in a sonic hedgehog gene might not be well received in a discussion of a serious disorder with a patient or their family.[17][89][90] This controversy has largely died down, and the name is now generally seen as a humorous relic of the time before the rise of fast, cheap complete genome sequencing and standardized nomenclature.[91] The problem of the "inappropriateness" of the names of genes such as "Mothers against decapentaplegic", "Lunatic fringe", and "Sonic hedgehog" is largely avoided by using standardized abbreviations when speaking with patients and their families.[92] https://en.wikipedia.org/wiki/Sonic_hedgehog_protein#Former_controversy_surrounding_name https://en.wikipedia.org/wiki/Sonic_hedgehog_protein#Former_...

uoaei 4y ago

It sounds like a great tool to use to soften the blow when telling the child. "Hey Timmy, we got our results back, and we found out you have the Sonic the Hedgehog gene. It might be scary but if you can be as brave and tough as Sonic everyone will be very proud of you." Try to remember what it is like to be a child.

tadfisher 4y ago
I would hope they have the SHH protein, all animals do.
- uoaei 4y ago
  Sorry, meant to refer to mutations in the gene, as in GGP's comment.
HarryHirsch 4y ago
I am vicarially embarrassed for you because of your lack of tact and life experience.
- uoaei 4y ago
  Based on my vote count I think your opinion represents the minority.
  - HarryHirsch 4y ago
    As I said, too many techbros without tact or life experience on this site. Geneticists moved away from silly names because physicians found that mothers who had just given birth to a severely disabled child did not take the silly names well. It's one thing to work in fly genetics and another to be talking to a parent whose child has a mutation in the human homolog. This is actual experience from clinicians working in genetic counseling. I am still embarrassed for you.
    - uoaei 4y ago

ryanmcbride 4y ago

I really doubt any clinician would say the full name when breaking the news. They'd probably just abbreviate it.

abcc8 4y ago
Exacrly, they would say the test detected a pathogenic variant in the SHH gene.

renewiltord 4y ago

Sometimes I wonder if I am a normal human being, and then I realize that I'm not. I must be some kind of superhuman. Less than a year ago I was told I had a C6 and C7 fracture, a manubrial fracture, a scapular fracture, a few metacarpal fractures, rib fractures, a splenic laceration. Despite the Corvette C6 and C7 being some of my favourite cars, when I was eventually discharged I could not find it in me to take my AR-15 to SF Gen and unleash retribution for the horrendous crime the doctors had done to me. In addition, a man ubrial fracture? So I'm not a man anymore?! Ugh. Urge to kill rising!

bilsbie 4y ago

You could say that about almost anything though. Why make life sterile and boring just because things can be good or bad. For example ships can’t have fun names because they occasionally sink?

s0rce 4y ago
What is the titanic was Boaty McBoatface!

willcipriano 4y ago

"I'm sorry, it's a problem with your Sonic the Hedgehog gene. In layman's terms, your gonna go fast."

blackencino 4y ago

Our daughter was diagnosed at age 4 with Gorlin's Syndrome, which is caused by a defect in this gene. She has spinal deformities similar to spina-bifida, and thousands of Basal Cell Carcinomas (BCC's), which are skin cancer, but with a lower-case c. The experience of being given this news was numbing, and in light of all the information we received, a cute name for the gene involved barely registered one way or the other. My wife joined the board of the Gorlin's Syndrome Alliance, which is a non-profit organization that helps people with this disease find help, and also tries to push medical science forward in ways that can help. Their mascot is a hedgehog (for obvious reasons) wearing a hat - because people who have this condition have to avoid UV exposure all the time. If you're interested, please check them out: https://gorlinsyndrome.org/ https://gorlinsyndrome.org/ (Currently suffering slow server). A bit of whimsy isn't the worst thing, when the news is otherwise pretty hard.