Essay Example on Scientific project on a Neurodevelopmental Disorder called Fragile X syndrome - FXS

Direction and the blessing met me when I decided to uptake a scientific project on a neurodevelopmental disorder called Fragile X syndrome FXS, which directed me straight to unravel the mystery of some unasked questions. Though the department of biotechnology in the University Of Kashmir is considered the top notch among other life-science departments in its modernized workstations and sophisticated instrumentation, still the initial phase was like a run of a mill job, because dealing with lab works in Kashmir comes almost next to a Herculean task. And you keep striving all the time either for a leaky autoclave setting frequent power cuts or for an incubator of a suitable temperature. I always knew the scientific world outside the lab too is fascinating and worth exploring and it took not so long for me to realize the impact of voids within the system which directed me to pursue a different path of research. What could have been more fortunate than to be working under the supervision of Dr Abrar Qurashi himself who is a Ramalingaswami fellow having long been associated with the epitomes of prestige and excellence like IGBMC at University Louis Pasteur ULP Strasbourg Emory University School of Medicine Atlanta and Icahn School of Medicine at Mt Sinai New York. He had been working there on dissecting the molecular basis of FXS and a related disorder called FXTAS for years and today he represents the lone figure in the entire valley operating the concept of FXS. FXTAS single-handedly and his lab is the only one working on this disorder. Somehow this queer rarity kept me luring to the story and the interactive sessions with my guide too began to increase gradually until some of his questions startled my mind into action.

We Can Write an Original Essay
Just for You.

Any subject. Any type of essay.
We’ll even meet a 3-hour deadline.

Hire Writer Now
He once said to me if the reason for intellectual disabilities is what you seek from me I would say the major chunk of the answer lies within the FX spectrum. He then laughed and added but the rest is for you to know. The agonies and the ironies the tales of FDA approved drugs perhaps meant for only you and me to learn about. That came like not an answer but rather a puzzle for me to solve and for which he himself directed me to interact with the leading psychiatrists of the valley and the eminent figures of the scientific world. Henceforth in the quest of satiating my unending queries, I came to some conclusions worth sharing here. Although the pace of Intellectual Disability ID and Autism Spectrum Disease ASD recognition among masses has accelerated in the recent years in part due to social awareness, campaigning and successful movies based on a lead autistic character but my concerns revolved around the predicament of the unaware affected populace, whom I doubt was even conversant enough to have realized the significance of this disorder. During the course, I was surprised to discover the traces of ignorance emerging from the professionals and policymakers, as well as a common man it is not much difficult to recognize an intellectually disabled case as it is easily characterized by significant limitations in both intellectual functioning and adaptive behavior, including conceptual social and practical skills. I talked to one of our collaborators Dr. Arshad Hussain HOD psychiatry SMHS and came to know that they determine these limitations by some standardized tests which enable them to classify the subject in ID ASD category. But then this step, in essence, was neither a diagnosis nor the end of the story.
Terms like intellectually disabled or Autistic actually depict only a certain medical state which might have resulted from numerous different reasons or underlying disorders. I wondered Under such circumstances should our target be to deal with the apparent state of the ID case or to address the underlying disorder. I wanted to know the pros and cons of the mechanisms that are currently governing our human pathobiology and I learned that the traditional characterization of such a medical condition in practice depends largely upon correlation between the clinical presentation and the existing pathological findings, which results into the disease being defined on the basis of manifest signs and symptoms. But it’s quite discernible that adopting such a practice has been overgeneralizing the situation which has left no gap to individualize the disease diagnosis or therapy. Further many of the cases do not even show typical symptoms till late adolescence. Among many of neurodevelopmental and neurodegenerative disorders which can possibly pave way to an autistic condition or inherited intellectual disability among populations Fragile X syndrome FXS is considered to be the leading one, however, it may be made clear that this consideration is based on published data from European nations and some of the Asian countries like China.
So how about the less privileged states like Jammu and Kashmir. As of now, we have neither the prevalence data available nor the effective diagnostic strategies, the reason of which might stem from innumerable factors ranging from contemporary views of medical professionals, as well as the general public to the translational delay of new scientific findings, into effective strategies. Though mutations that lead to such disorders occur early during embryonic development as per the recommendations made by the American Academy of Pediatricians and American College of Medical Genetics children are possibly screened at the earliest for any undiagnosed developmental delay ID or Autism. Now talking about the part of the world that we live in it wouldn’t be wrong to say that an Intellectually Disabled case here gets recognition only after consideration by some intellectual fellow, which usually happens after many years of onset and restricts the concept of preclinical manifestations and early interventions. I made many efforts to interact with the affected families in Kashmir and their respective doctors so as to understand what actually was going on. I failed My people, failed me as most of them couldn’t even define the condition they were suffering from and those whom they claimed of having a better knowledge were least bothered to even answer. Only after talking to the patients living overseas I understood how ignorance has accursed my nation into the depths of suffering. Nevertheless, I got an excellent response from the people of other countries.
One of the patients from Johannesburg Alan Evans suffering from FXTAS explained to me how the severity of this disorder and the ways to deal with it are different for different people. He has been the patient of Dr. Hagerman the pioneer of the fragile X field Medical Director of the MIND Institute at UC Davis, who is an internationally recognized clinician and researcher of FXS FXTAS. Surprisingly only two things were prescribed to his diet and exercise. Following Wahl s protocol in the diet which eliminated sugar and inspired by the results obtained from a mouse model in research papers, the patient had tried the effects of taking zinc with 15 copper. He said It was amazing that the diet took away the pins and needles from my chest and back and brain fog, after just 3 months of treatment. Turning back to the people of my place we know how the pathetic condition of such patients here stays with them lifelong. Surely the ignorance here has successfully encrusted the necessary awareness among the general public as well as in the professionals of the respective fields and has resulted in the treatment strategies directed at just to overwhelm the aggression or the apparent behavior of the undiagnosed intellectual disability cases.
One of the ironies with fragile X syndrome is that it is often slow to reveal itself and may go undetected in the early years. So the children without severe symptoms may not receive remedial assistance on time in the western world. But should not it evoke strong concerns that a child with even severe symptoms here may not receive the correct remedial assistance in his entire life only because of unawareness and lack of proper diagnostic facilities. To be concluded Sheikh Uzma Shaukat is a scholar at Kashmir University working currently on the molecular aspects of FX spectrum of disorders in the Department of Biotechnology and can be reached at me. Be part of Open Journalism At Kashmir Observer we pride ourselves for being open honest and unbiased. If you have noticed we haven’t put up a paywall unlike many news organizations as we want to keep our journalism open. We believe journalism should be open fearless and unbiased. Open information helps with informed decisions. Journalism takes a lot of time money and hard work to produce despite all the hardships, we still do it because we believe our perspective matters because it might well be your perspective too. Today more people are reading Kashmir Observer than ever but only a handful are paying and advertising revenues across the media industry is falling fast. If everyone who reads our reporting helps to support it our future would be much more secure and we will be able to keep our and your perspective going.

Write and Proofread Your Essay
With Noplag Writing Assistance App

Plagiarism Checker

Spell Checker

Virtual Writing Assistant

Grammar Checker

Citation Assistance

Smart Online Editor

Start Writing Now

Order Essay on Scientific project on a Neurodevelopmental Disorder called Fragile X syndrome - FXS

CALCULATE YOUR ORDER

Standart price:

0

Save on your first order!

=>

0

Start Writing like a PRO

Start