Pakistani scientists discover 30 new genes causing mental retardation

Published: September 7, 2016
PHOTO: Pakmed

PHOTO: Pakmed

ISLAMABAD: A group of Pakistani researchers has discovered some 30 genes causing mental retardation in the local population, paving the way for preventive measures to reduce intellectual disabilities in the future generations.

The landmark discovery has been made by a team of 12 professors from the Shaheed Zulfikar Ali Bhutto Medical University (SZABMU) of Islamabad working in collaboration with scientists from the Netherlands and the US.

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The groundbreaking research was announced by the Pakistani scientists on Tuesday. The paper has already been published in Nature’s Molecular Psychiatry – a prestigious international journal with an impact factor of 13.3.

Researchers from SZABMU, Netherlands’ Radboud University Medical Centre and University of Maryland School of Medicine had been working on the research for the past five years.

“This is a landmark discovery for Pakistan as mental retardation is comparatively high in the country owing to cousin marriages,” said SZABMU Vice-Chancellor Dr Javed Akram, who was the principal investigator from Pakistan.

The elevated level of endogamy in Pakistan has led to increased prevalence of genetic disorders, including autosomal recessive intellectual disability (ARID) with an average of 1.1 cases of severe ID and 6.2 cases per 100 live births of mild ID.

The researcher from Netherlands, who joined the press briefing via video conferencing, said the new findings further expand the existing repertoire of genes involved in mental retardation, and provide new insights into the molecular mechanisms and the transcriptome map of the condition.

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These findings together with results expected to be released during the next eight months will have a significant role in improving the existing diagnostic procedures as well as treatment strategies especially of Molecular deafness,  said Prof Hans van Bokhovenand from Radboud university Medical Centre.

SZABMU’s Dr S Riazuddin said the aim was to help bring in new legislations for a battery of tests for postnatal screening of infants and prenatal screening for mental retardation and other hereditary diseases.

The team is also going to propose the government to make mandatory pre-marriage screening for families having genes that cause blindness, deafness and intellectual disability.

The Pakistan Institute of Medical Sciences (Pims), he said, has already registered some 3,000 such families from interior Sindh and south Punjab having such genes to consult before contracting within family marriages.

The paper published in the Molecular Psychiatry journal can be viewed at

Published in The Express Tribune, September 7th, 2016.


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Reader Comments (41)

  • BrainBro
    Sep 7, 2016 - 9:29AM

    Pakistan has 70% cousin marriages that is causing a lot of issues with mental health.Recommend

  • Thora Bora
    Sep 7, 2016 - 11:13AM

    At least some development news from Pakistan. Our political intellectuals are also good subject to test next.Recommend

  • Anonymous
    Sep 7, 2016 - 11:23AM

    Well that explains it alrightRecommend

  • Saqib
    Sep 7, 2016 - 12:26PM

    Good that Pakistan scientists conducted research on mental health issues, which would produce good result if the proposed legislation of making mandatory pre-marriage screening for families having genes that cause blindness, deafness and intellectual disability is promulgated.Recommend

  • FF
    Sep 7, 2016 - 12:28PM

    Maybe he can start work on the retards that make up the electorate next and tell us why they cannot move a country like Pakistan forward out of the dark ages.Recommend

  • wiserneighbour
    Sep 7, 2016 - 12:45PM

    Sampling was easy.Dont have to hunt for donors.Just look around,you will find plenty.Recommend

  • Gemini
    Sep 7, 2016 - 1:09PM

    LOL at first i thought he is Saddruddin HashwaniRecommend

  • Manisha Patel
    Sep 7, 2016 - 1:54PM

    So at this rate, India doesn’t even need to do anything. In a couple of generations, Pakistan would have taken care of itself.Recommend

  • Virendar kaul
    Sep 7, 2016 - 2:13PM

    marrying among cousins is morally wrong, It is branch of incest. Now scientifically proven fact also.Recommend

  • LOL
    Sep 7, 2016 - 3:01PM

    @Manisha Patel: thank you for confirming the well-known fact that Indians have nothing but hope to see Pak destroyed, as opposed to “we wish good for Pak” hypocrisy statements by Indians.Recommend

  • Nutan
    Sep 7, 2016 - 4:31PM

    Thank god i am hindu and thank my ancestors for not converting to islamRecommend

  • Abhijeet
    Sep 7, 2016 - 5:13PM

    Pakistan best suited for this kind of research as specimens available aplentyRecommend

  • Someone
    Sep 7, 2016 - 6:20PM

    @Virendar kaul:
    Except for Hindu beliefs on marriage have nothing to do with science, let alone scientific. A second cousin has as much genetic variation as a stranger does. Though Hindu customs restrict personal freedoms and are stringent as far as who one can marry.Recommend

  • Polite Indian
    Sep 7, 2016 - 6:24PM

    Does incest cause mental retardation or does mental retardation cause incest?

    This seems to be a classing chicken and egg story!Recommend

  • Nasir
    Sep 7, 2016 - 6:25PM

    I believe cousin marriages are healthier except few exceptions of abnormalities. The research has to be studied thoroughly and this news report did not even mention as to the exact number of people chosen and their ratio according to population. As per the report above 1.1 cases of severe abnormality and 6.2 per 100 births. We don’t know for sure that these were 100% cousin marriages or the number consists of all the births. Also, not all cousin marriages are unhealthy it all depends on genes and I have seen many abnormal kids in the US who were not born to cousins rather random families but caused genetic disorders so it is not true that cousin marriages are harmful.Recommend

  • Passerby
    Sep 7, 2016 - 6:37PM

    @Nutan: What about uncle and niece marriage in Hindu India especially in Maharashtra? Recommend

  • Pakistan Zindabad
    Sep 7, 2016 - 6:43PM

    I was quite impressed until i read “The issue related to Cousin Marriage”. So they discovered as per the theories of West. They are under severe complex of West and their studies. For that we all deny our daily experiences and facts.Recommend

  • Pakistan Zindabad
    Sep 7, 2016 - 6:46PM

    @Manisha Patel:
    Remember when Muslim had the highest rate of cousin marriages. They ruled the world. But they got impressed by others. They ruled us. Recommend

  • Bilal
    Sep 7, 2016 - 7:28PM

    “The research has to be studied thoroughly and this news report did not even mention as to the exact number of people chosen and their ratio according to population”

    Finally, some one commented with an anlytical mind.Depends on how the study is/was conducted.But , we can’t deny presence of the problem. Needs further study to see what is the severity of the problem.Recommend

  • KK
    Sep 7, 2016 - 7:45PM

    “working in collaboration with scientists from the Netherlands and the US”, implies most probably some non-Muslims are involved. Therefore, input from CII is called for.Recommend

  • Haji Atiya
    Sep 8, 2016 - 5:21AM

    @Pakistan Zindabad:
    If the “King” Elvis Presley thought “kissin’ cousins” was ok, who am I to complain ?!Recommend

  • Shakti
    Sep 8, 2016 - 5:53AM

    Since these genes do not appear anywhere else, Pakistani scientists are the only ones who can do this research.Recommend

  • nasir ali
    Sep 8, 2016 - 3:16PM

    Sweet… you have been able to recognize your kins quickly. Good job Recommend

  • Pakistan Zindabad
    Sep 8, 2016 - 4:54PM

    @Haji Atiya:
    “Tickling” is not allowed.Recommend

  • curious
    Sep 8, 2016 - 6:31PM

    @Shakti: This happens in many societies around the world. But is more prevalent in conservative societies, there are many reasons for cousin marriages. Recommend

  • Asif
    Sep 8, 2016 - 9:11PM

    This explains quality of our politicians where inbreeding is 100%Recommend

  • MA
    Sep 8, 2016 - 9:31PM

    How come Israel is not included in this report. Yahudis mostly marry among their own next of kin.Recommend

  • Aafiyat Nazar
    Sep 9, 2016 - 8:36AM

    I had attended a seminar for engaged and new couples at Aga Khan University in 2000, when Doctors had mentioned the same thing. There was a female Doctor from Pak Army Dr. Jahan Ara Paul as well. The Doctors had emphatically pin pointed the issues of cousin marriage. They had specifically mentioned the cousin marriages causing mental retardation and other issue….so what is new in it???Recommend

  • Aamir
    Sep 9, 2016 - 1:37PM

    yes we found a lot of samples available in our neighbour.Recommend

  • ali rehaman
    Sep 9, 2016 - 2:43PM

    @Aafiyat Nazar:
    go nawaz goRecommend

  • HS
    Sep 9, 2016 - 3:17PM

    Did anyone of you actually read the research paper? Link is given at the end. These results are based on 121 families. So first of all the sample size is not large enough to provide any conclusive results. Then read the results. Recruitment of families: We enrolled a cohort of 121 ID families with a likely autosomal recessive inheritance pattern. Every family had two or more affected individuals. So the study was to filter the genes that cause mental retardation.This was a selective sample. There was no control group study to compare the data.
    Stop making everything into a religious or political issue. This is a purely scientific study to isolate possible genes.Recommend

  • Angry
    Sep 10, 2016 - 12:43AM
  • kadwa sach
    Sep 10, 2016 - 8:16AM

    @Virendar kaul: — why tell retards the cause of their retardness? Let them destroy themselves with their incestuous behavior. They are born retarded and are taking the country down the drain. Besides, they really believe that they are doing the right thing and the entire world, including medical experts and scientists, are wrong. Recommend

  • Lankeshwar
    Sep 10, 2016 - 3:37PM

    Now I know why Pakistan is the way it is.Recommend

  • Khan
    Sep 10, 2016 - 7:45PM

    @Nutan: :) I can just picture you in my mind. Recommend

  • Khan
    Sep 10, 2016 - 7:46PM

    You didn’t do so well my man, read your comments again slowly and you will knowRecommend

  • Khan
    Sep 10, 2016 - 7:51PM

    @kadwa sach: Is everything ok? Or are you just mad @ Pakistani period. Grow up!!!Recommend

  • farkhanda Haroon
    Sep 10, 2016 - 8:23PM

    Marriages in family not only cause mental retardation but it enhances the risk of other diseases. I am a Pakistani and a proud muslim. My religion says accept the things that have logic. So this research is logical. Marriages in family limit genetic diversity and adaptability. Marriages out of family enhance genetic diversity and chances of survival in any environment.. . . …Recommend

  • M Nazer
    Sep 10, 2016 - 8:30PM

    Yeah its a scientific study and it is right. And pakistanies, please be mature, dont try to teach Islam to others. First of all learn it than talk. According to Islam , Knowledge is a lost property of a muslim, own knowledge from where you find it. . . . . So its a scientific research done in pakistan. We should accept it , in case this would be the research of west or India. It is knowledge, learn from it. I must want to confirm that I a Pakistani. . . .Recommend

  • Non-Punjabi Indian
    Sep 10, 2016 - 8:42PM

    For all Indians busy in Pakistan bashing, don’t forget that such incest exist in south India too. Maternal uncles marrying niece. There are examples from vedas too. So lets do constructive things and felicitate these researchers, instead of doing usual time wastage on internet.Recommend

  • Non-Punjabi Indian
    Sep 11, 2016 - 8:54AM

    This hate is sickening!Recommend

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