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The challenge: to understand the genetic basis of autism

Esnat Sommer Penn, one of the winners of the UNESCO L'Oréal Prize for Women in Science left immediately after the prize ceremony for Seattle to investigate the disease that bothers many parents

Dr. Osnat Sommer-Penn. Photo: Lem Welitz Studio 44
Dr. Osnat Sommer-Penn. Photography: Lem Welitz Studio 44

Osnat Sommer Penn, one of the winners of the UNESCO L'Oréal Prize for Women in Science left immediately after the prize ceremony for Seattle to research the disease that bothers many parents. "We're going to try and understand something about the genetic basis of autism." Penn said in a conversation with the science website.

Esnat holds a double degree in biology and computer science with honors from Tel Aviv University, a master's degree with honors in life sciences, also at Tel Aviv University, and she is currently completing her doctorate in computational biology in the laboratory of Prof. Tal Popko. During her studies, Asanat won several scholarships and awards, among them: a scholarship from the Committee for Planning and Budgeting (VAT) in the field of integrated technologies, a scholarship from the Edmond Y. Center. Safra for bioinformatics, and an award for excellence in research and teaching from Tel Aviv University.

According to her, today it is thought that the concept of autism contains a wide variety of different biological conditions, all of which are currently under this umbrella called autism. In fact, there is a wide spectrum of disabilities.

On the one hand, it is now known that autism is a hereditary phenomenon, and on the other hand, the exact nature of Lott syndrome is unclear. It is probably a complex system. What adds to the complexity is that apparently there are many types of autism, and we use one term for many phenomena that originate from different biological factors.

How will you do it?
"I am going to join a large team of renowned researchers in the US who are trying to gain insights on the subject. I plan to use computational tools to analyze genome sequences collected from hundreds of families with an autistic child. The goal is to compare the genomes of the healthy parents with the genomes of the children with autism and look for what has changed and what causes the disability."

"I hope to decipher the phenomenon by comparing the genetic sequences of autistic children and their non-autistic parents. We will try to understand what happened in the process that caused a phenomenon that did not exist in the parents to occur in their offspring. Whether it is mutations or duplications (duplications) or perhaps the opposite - missing whole regions in the genome. We will look for what happened de novo, that is, what happened during fertilization or before fertilization. In the case of autism, we are trying to find in which genes such mutations repeat themselves in autistic children, and thus point to the genes that cause autism."

"We are currently in a great period, in the midst of a genomic and computational revolution. On the one hand, biological and genetic research has advanced significantly, and on the other hand, genome sequencing technology and, of course, computers have developed greatly, and together all of this makes it possible to do this type of research, on a scale that was considered science fiction until recently."

"The ultimate goal is to develop methods for diagnosing autism as early as possible and lead to a deeper understanding of the causes of autism, which will hopefully lead to the development of different ways to deal with autism."

Penn points out that each of us has many mutations and each of us probably has deletions or duplications of genes. "These changes are one of the factors that differentiate between different people and cause differences in human characteristics. We are generally healthy people despite these changes, but some of us suffer from known genetic syndromes that result from such deficiencies or duplications.
We couldn't resist asking Dr. Penn about another possible source of autism that is not genetic, the vaccines, which has already been proven wrong, but the error has taken root in the public since the topic was raised by Dr. Andrew Wakefield.

"Precisely under the spotlight of the vaccines they searched following Wakefield's publication and found no connection.
The original study that claimed such a connection was completely refuted several times and the journal in which it was published completely disowned it. Many researchers have looked into this matter and today there is no known connection between them. Contrary to that, vaccines succeed in preventing the population from contracting terrible diseases, so in my opinion it is very important to vaccinate against them. I of course vaccinated my two sons, and those who do not do so endanger not only their children but also everyone who cannot be vaccinated, especially babies who are too young to be vaccinated.

You mentioned the boys, how do you combine scientific work with family care?

Sommer-Penn: "As everyone knows, combining work and family life is challenging. I personally really enjoy combining the two worlds, but I couldn't do it without the support of my husband and extended family. My husband is a full and true partner in life, including parenting. It was obvious to all of us that he would go along with me and encourage me to do a post doctorate and continue an academic career. I think egalitarian parenting can contribute not only to women who want a career but also to men who want to take a significant part in raising their children, and of course also to the children themselves. Especially at an early age, this is an experience that no parent, man or woman, should miss."

14 תגובות

  1. To B, right. The name of the book (in its Hebrew translation) is "The Cry of the Mothers". Its author is Morton Thompson

  2. Research on autism is also extremely important from the genetic point of view, the only fear I have in regards to genetic mapping and early diagnosis is that there will be no more reasons to have abortions in order to bring only perfect children into the world.
    On the other hand, without a doubt, diagnosing autism at a very early age can help in many cases.

  3. Look at the ignorance of the people of Haaretz on autism and antipathy.
    I am a high-functioning autistic person and I get hurt by it every time.
    Apart from that, curing autism may harm the autistics themselves (eliminate their abilities and change their personality) and will also harm levels we did not think about. Specifically, parents in high school, mathematicians, physicists, etc. have a high chance of giving birth to autistic children. really.
    If you want to find the cause of autism and thus help autistic people deal with their difficult life, then fine. I am against healing.

  4. If there is a subject that has been studied beyond its proportion, it is the subject of the effect of vaccines, after all every vaccine is actually a clinical trial and if there was anything, already decades ago you would have felt that there was a change in the pattern. The whole connection to autism is that one scoundrel received $750 from parents of autistic children who wanted to sue their government in England and found a reason to damn the vaccines.

  5. The topic of vaccines is worth serious research.
    I do not know if such a study has been carried out.
    I only read that the researchers who claimed that vaccines are dangerous did bad research.

    Without vaccination, children are exposed to great risk.
    There is no doubt about that.

    But since a claim arose. And the claim is based on a significant increase in autism in recent years. Research needs to be done.
    Even if the research results show for sure that children are harmed by vaccines, the chance should still be weighed against the risk.
    If the results of the study show that children are harmed by the vaccine, then it is necessary to invest in the development of another harmless vaccine.

    In any case, research on the risk of vaccination (if such a risk does exist) does not contradict research on genetics.

  6. Moshe, what you are doing in this response is simply calling for the cold-blooded murder of children by preventing them from being vaccinated.
    Like everyone who preaches against vaccines

  7. Anyone who believes in doctors with closed eyes is invited to read about Dr. Zemelvis, about his struggle, about his suffering, about his death.
    in short:
    Most of the mothers who arrived at the hospitals died. He noticed that women who give birth outside the hospital survive better.
    He demanded hygiene at the hospital. As a result of this demand he was fired from his job. Finally he proved his claim by infecting himself with the disease and thus he died.
    There is a book that describes the story.
    To the best of my recollection, the name of the book is "The Cry of the Mothers". (not sure that's the name). Highly recommended to read.

  8. The genetic factor is stupidity
    of the parents who do not ask the nurse or doctor to see the contents of the vaccines in a drop of milk.
    When we buy something in the supermarket, all the ingredients are listed, but when children are injected with mercury and aluminum, no one asks to see the list of ingredients, and certainly not the MSDS. So many "genetic" diseases have emerged in the last fifty years, what a surprising genetic deterioration at the speed of the human race. Blessed is the believer.

  9. to Nexus
    You may not be able to trust Dr. Sommer-Penn's expertise, but the UNESCO-L'Oréal Prize Foundation and Seattle University probably have more appreciation for her expertise and have decided, nevertheless, to put research budgets on her.
    Come to them with claims.

  10. Yesterday Channel Ten had a program about the sensitivity of a small percentage of the population to electromagnetic radiation from cell phones, refrigerators and microwaves (different wavelengths but this point was not addressed in the article).
    I would love to receive comments on a matter that seems a bit puzzling to me.

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