A joint study by the Tel Aviv Medical Center and the University of Basel in Switzerland discovered the genetic basis of a rare syndrome in which people are born without fingerprints
A group of researchers led by Prof. Eli Shpercher, director of the dermatology department at the Tel Aviv Medical Center, in collaboration with the University of Basel in Switzerland, has led to a breakthrough in understanding the genetic basis of those suffering from "transboundary delay disease". This disease manifests itself in the congenital absence of fingerprints and is called by this somewhat unusual name, since those with it often encounter difficulties at border crossings in countries that require fingerprints to be checked.
Fingerprints are a unique characteristic of human skin and are widely used in the modern era as an identification tool. But it is clear that fingerprints did not develop in humans to make the work of police investigators and detective writers easier. So what are our fingerprints really used for? In the past, it was thought that the role of fingerprints was to facilitate the act of perception. But recently, this theory has been abandoned and in its place another opinion prevails according to which the delicate folds of skin at the tips of our fingers are mainly used to increase the sensation of gentle touch and vibration.
Recently, a multi-year study was completed, at the end of which the defective gene causing "border crossing delay disease" was discovered in a large Swiss family. Using sophisticated genetic tests, the researchers identified the gene, called SMARCAD1.
SMARCAD1 has two forms, one found in most body organs and the other expressed only in the skin. The genetic defect that causes the disease results in the selective disappearance of the cutaneous form of SMARCAD1. Dr. Zana Nusbeck, from the Dermatology Department at the Tel Aviv Medical Center, explains, "In the first step, we identified the defective gene in members of a large family who are born with missing fingerprints. Normally, one gene contains the necessary information to create one protein, but in the case of the gene associated with congenital fingerprint deficiency, we discovered that it codes for two different proteins, one of which is found only in the skin and not in any other tissue. It turned out that the genetic defect that causes a congenital lack of fingerprints affects the gene product that is expressed in the skin only, which explains the limited expression of that genetic defect in the skin."
According to Prof. Spracher, "Hereditary diseases resulting from a single genetic defect are a unique source of information to understand complex biological phenomena. Through the study of a rare hereditary disease, a unique mechanism that controls the formation of fingerprints in humans has been revealed, a phenomenon whose molecular basis was not known until now. With the identification of SMARCAD1, a better understanding of the way this molecule shapes the three-dimensional structure of our skin will be needed. Since abnormal fingerprints have a known connection with other diseases, some of them serious, the new findings may have possible implications for understanding the biological basis of more common diseases in and outside the skin."
The group's discovery will be published in the prestigious American Journal of Human Genetics. In addition to Dr. Nusbeck and Prof. Spracher, Dana Fox Telam, Dr. Mor Pavlosky, Dr. Shlomit Fenig and Dr. Ofer Sharig from the Dermatology Department of the Tel Aviv Medical Center, and Dr. Bettina Burger and Prof. Peter Itin from the Dermatology Department, participated in the study. University Hospital of Basel, Switzerland.
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Do not understand:
It is not true that a "deviation from the norm" is called a "defect".
For example - no one would argue that genius is a flaw or that the ability to run like Bulit from Jamaica is a flaw.
These are beneficial mutations.
Harmful mutations are called a defect and as in any subject - here too there is a rating - there are minor defects, there are moderate defects and there are also destructive defects.
Sounds like Yair is right. It bothers me from a slightly different angle and when thinking about creationists' inference.. As soon as you call the phenomenon a "defect", it's as if you determine that from a "neutral" point of view it really is a defect, but in fact it's just another gene/mutation, which in the current case is not helpful and even harmful. It's a bit problematic to call it a "flaw", because it makes people who don't understand science, think that the "normal" organs are self-evident and are a perfect creation...and the minority are intentional "flaws"...and not just another case of plural sex.
There is no end to "flaws" (as horrible as they may be), so "creation" is far from perfect.
Camila are you enjoying yourself? I laughed (deaf of course) at your oops.
Regarding the syndrome you sent me to read, you could have talked about dozens of defects, and I emphasize again the distinction between research reporting and everyday language.
Machal, (it's a pity that the comments are not yet numbered) in the response in which you demanded reference to your words, the chance that you will change your mind is small in any case, but if it seems to you or my father that I came with grievances about you, I did not mean that at all, but to raise a thought in general. I actually learned from the article, which in my opinion is still poorly worded about something I didn't know at all and I'm grateful for that. The quoted words of the researcher, who also called a phenomenon roughly equivalent to a mole on the back (assuming the article summarizes the symptoms of the syndrome), a disease, and its owners, "suffer".
Gentlemen, I allow myself to withdraw from this discussion amicably, without changing my opinion but with the need to think about it afresh.
Joe:
The title - like the content - was not compiled by the site but by the Tel Aviv Medical Center.
He probably directs his articles to people with a more developed sense of humor than the science readers exhibit.
Sorry I didn't read the article, but your pompous titles do not match the general (good) level of the site. A person is born without fingerprints. OK. But from here to "being born without an identity?" Excuse me, for flashy headlines I can read "Yediot Hayom" or something like that.
If we accept the spirit of things according to which it is forbidden to use the word "defect" we will very quickly come to the point that we will also be forbidden to say "disease" and in the end we will only cause harm by doing so.
Oops... in my last response I accidentally wrote "genetic defect" and of course I should have written genetic change or mutation.
Sorry for the glitch.
Year:
I don't think you addressed anything I wrote:
You did not address the fact that this is an article written by the research entity itself and not by the science site, therefore even if
There was justification for your claim because the claim is not addressed to the right party.
You did not address the fact that the word "defective" has no necessary connection to an aesthetic/moral/value judgment and is also used for defective machine parts (am I allowed to say about machine parts that are defective?)
You did not address the fact that the mutation in question does cause problems for its carriers.
So tell me: how did you expect me to change my mind?
Yair,
If I understood you correctly, then if the article had discussed the subject of Treacher-Collins syndrome and they had called this occurrence with the word defect, you would have made your same comment, that it is a defective usage because it implies that features were created for a certain purpose.
As you were told before, pointing out the fact that something does not perform a function that it is obvious that it performs normally and calling it a defect is a legitimate description that does not result from any purposeful creation process. It is not clear where this argument comes from, but it is certainly not logically derived. If wings are used for flight (not because someone created them for this purpose but because they are simply an adaptation to a certain living environment) and one day, due to an accident, a predator, a disease, or a genetic defect, a wing is formed that does not allow flight, then the description that it is a damaged wing is a description very fitting. It is not about judgments of the kind you talked about (aesthetic or moral). The example with Treacher-Collins syndrome illustrates in my opinion why the prohibitions against using the word defective is incorrect and I would still love to hear how you would describe it (or other similar things such as immunodeficiency diseases for example) without using terms based on roots such as PGM , K. S. L. etc. Here, this is exactly the place to answer that because you are the one who raised the criticism in the first place about the improper use in your opinion of the description brought here.
Camila, Machel,
In everyday language, there is no problem with the use of defective, disabled, retarded. Everyday language does not require excessive precision because it relies a lot on the actual situations of life. It is a language full of judgments of all kinds.
Scientific language is non-judgmental. She should describe things as accurately as possible.
I have given an easy sample of judicial mathematical language. We will not get it in mathematics.
I do not demand from an article intended for a wide audience the accuracy that is accepted in a scientific article, but it is possible to demand that the writing avoid, for example, judgment, just as it is appropriate to avoid as much as possible writing (very common) that gives the impression that features were created for a certain purpose.
That's my point, and it has nothing to do with political correctness.
Makal, notice how seriously you treat making a claim freely, when it seems to you that a rule is necessary in the discussion, and this is compared to the ease with which you place the wording in the article.
Camila, I have opinions about your questions but I don't think this is the place to comment on them.
Year:
It's not fair to take an idea I presented to you and offer it to me as something I hadn't thought of.
Because of this, as my father has already said, we tend to call only things that interfere with the name of defect.
Yair,
I want to understand how far you are willing to go with the apparent political correctness you offer. How would you treat, for example, sufferers (oops... I meant subjects) of Treacher-Collins syndrome
(http://en.wikipedia.org/wiki/Treacher%E2%80%93Collins_syndrome)
Those who want to understand what it is about in a more graphic way can search Google images for the name of the syndrome.
And now comes the important thing, if we agree to call this event a defect, does it entail something, automatically or through a chain of binding logical arguments, about the right to exist of those people who participated in it? About the level of care that should be given to them? Or about the standard of living that should be tried to give them if possible? Maybe the problem is with you, that you seem to be getting from such an irrelevant link? The fact that there have been other people who have made this unwarranted link in the past does not necessarily make the flawed designation wrong.
Suppose it turns out that very high intelligence originates in one gene, would you agree to call it defective?
By the way, I didn't mention before, but the current article was not written by the knowledge site but by the Tel Aviv Medical Center.
Year:
When a part in a car or computer does not perform the work expected of it, it is said to be defective.
There is no aesthetic or moral assessment here.
It is legitimate to use this language also regarding a kindergarten that does not perform the work expected of it - although here the expectations are retrospective.
It is true that some of the genetic defects eventually cause the formation of new species that do not fall from their predecessors in any aesthetic or moral dimension, not even in a functional sense, but in the case before us the expression seems absolutely reasonable to me.
It is also common in discussions about evolution in academia and there is nothing wrong with it.
If you see that "every time there is an article on evolution, there are many erroneous statements" there is no benefit - neither to you nor to others in that you refrain from reacting on the spot and refer only retrospectively in a statistical way that does not allow you to know what you are talking about.
Better to point out the mistake instead. This will allow the wrongdoer to correct his mistake and the right person to explain his righteousness to you.
It is not a question of political correctness, but a question of correct reporting, and a correct understanding of the issue. You can also use mathematics for example 5 defective 4 equals 1, 4 defective 5 equals 1 defective.
Yair, a damaged gene is a gene that causes some kind of problem, it is true that it is subjective - that is, one does not always think that it is a problem, but there is also a limit to politically correct statements.
"Defective garden" is a flawed phrase on a website specializing in science and the word evolution provokes angry discussions on the subject. In fact, every time an article appears on the subject of evolution, there are many erroneous statements. The word "defective" is an aesthetic as well as a moral assessment that has already been used in politics.
Science deals with the description of existing things to the best of its ability. As Ami Bachar wrote, it is not at all certain that the assessment that the absence of a fingerprint means a "defect" is correct.
In fact, every "defective" is nothing but a minority compared to a majority. If we take a much more serious issue, intellectual ability, it is not impossible, theoretically, that the majority of the population will be at the level currently considered "impaired", will we then call the minority with what is now known as normal ability, defective?
very interesting. I learned that the evolutionary significance of fingerprints is probably an increase in the ability to sense and also that it is a lack of expression of a protein that originates from a defective unique gene.
I just hope that the percentage of psychopaths among the population of those who suffer from this syndrome is smaller than their percentage in the population as a whole. A murderous psychopath without fingerprints can be a very big headache for the police.