Ivana a.k.a. Science Trainee
An aspiring biomedical scientist, science communicator/educator, blogger, nerd, volunteer at Khan Academy.
Keep tabs on molecular medicine.
https://bio.fm/sciencetrainee
*Free hugs*
Location Montenegro
Achievements
Activity
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Imagine what the situation with North Korea is.
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@Dr.MiguelDerijcke Does this iceberg (old data) means that the UK is not testing enough? If they test only symptomatic and those died, that is why have lots of undetected with mild disease and asymptomatic?
Also if 14million tests done worldwide and 2Million cases means that every 7th person is not affected.
Meaning that the situation is not as...
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Sending empathy to Italy.
Stay strong! -
That is so nice of you :)
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Ivana a.k.a. Science Trainee made a comment
Hello everyone! I am an aspiring clinical scientist from Montenegro who is very scared of this virus (for the economy) but at the same time fascinated with the viral world.
I believe we can combat it if we know the details. Why? Because if we understand why we have to do something, then we more readily obey.
The latest news I heard is that we might have...
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woohoo lucky you!
You have no idea that statements like that and people like you put a smile on my face.
Because I am seriously empathetic when it comes to health (being myself young but 'unhelathy') and being sick of people constantly complainin. All those hypochondriacs around me. -
As I am informed, results which you get with PCR then use for Southern Blotting? I mean both technologies...
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Honey has a sugar - just like any other sweets you eat.
Those who are not taking exogenous insulin, must refrain from eating honey. Honey is even mor epotent than sucrose (table sugar) and may oversatirate Insulin receptors.
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Ivana a.k.a. Science Trainee made a comment
I'd design a gene panel for risk of diabetes type II. So once we have diagnosed and known for sure it is Diabetes, plus we suspect it is a type II we can do screening for SLC30A8, HHEX, CCND2, and CDKAL1.
Variants in those genes affect the secretion of insulin from beta cells. But not the insulin resistance and genes around the MHC complex (type...
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@BelayAbebe Very well explained :D
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While it could confuse and be counter intuitive I am one of those: more data means more insight! Th more the better, Of course, that incidental finding and more data means more work and mroe dilemma...somebody has to extrapolate that data and sew back to the big picture.
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Agreed. I'd like it if every country had implemented NGS as routine tool to contribute to large scale global studies.
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Excellent insight!
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Wow, you are so lucky. My dream would be to use Illumina sequencing. I've never tried it myself and it sounds super exciting...
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But Sanger sequencing is slower and more expensive than NGS...or I may be wrong? Your input is that for research purpose during studies Sanger sequencing is most plausible? Somehow that si what I was thining about.
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Ivana a.k.a. Science Trainee made a comment
I only know of taking NIPT as a preventive screening measure in older moms.
But virtually any genetic disorder should be genetically tested for mutations. From Beta Thalassemia to MTHFR deficiency or Diabetes. For example, as a basic thing as anaemia! You never know what real reason behind that is.
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Yes, mastectomy is a preventive measure. However, not every woman should do it.
While you re correct that BRCA1/2 are shown to be the best genetic markers (and by those means better to predict since have deeper penetrance than biomarkers) there is still a need for novel markers.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016023/ moreover, families where... -
You say we can treat Beta Thalassemia with bone marrow transplantation. How do you determine needs for transplants?
I have a friend who has mild Beta Thalassemia. He is going to go to Sports University.
Do you think that would be plausible? Could bone marrow transplant be used in this case, 'to enhance' his capabilities? Is BMT used only in critical...
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This might be the irrelevant but I'd like to jump in at the part 'with the awful medications currently being forced on the unknowing public'.
I offer a new idea: that's why Clinical Trials exist. But apart from not using genetic diagnosis (as you've stressed out) the problem of recruitment of patients, getting their consent and connecting people to the...
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@PetraKonecnikKresnik I do not know whether you speak Croatian (your name implies to Croatia or Slovenia) plus we are not allowed to use any other language not to violate rules so I write in English. I've noticed your comments and are interested in contacting you outside of this platform because you seem enthusiast and right now stuck in home country (just...
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@OluwatomisonoAkinrimisi It does make sense. Thank you.
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I can only notice about transposase. They act like restriction enzymes but specifically cutting and pasting sequences from DNA to another location in DNA. And that way creating transposons. Maybe I am wrong...
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@TonySamson wow thank you. Followed you. You answer my questions and it feels great. I do not feel invisible and unheard anymore :D
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@TonySamson That is VERY RELEVANT.
I just asked the dumbest question. Now it makes sense. I wonder where my head was back then D: -
@JohannaDrosopoulou Thank you. I just calculated the wrong way D>
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@KarenOliver-Paull ew not eating liver. Not even healthy to eat liver from other animals - because of toxins.
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Ivana a.k.a. Science Trainee replied to خلود علي
@TonySamson That's what I said I think? :D thank you for your checking though
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Impressive.
Exactly, sometimes one gene codes for many traits, but in other cases we have polygenic traits (many genes coding for that one trait).
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@AlexaNitka thank you for your explanation. Makes more sense :D
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I am always afraid of those prone to misuse the technologies. Science cannot advance if we 'handcuff' researchers just because some of them may misuse it... :(
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Agreed.
On the other hand, there are some additional rpoblems which arised with sequencing whole human genome: the problem of interpretin data, how to handle sensitive and guarantee privacy of big data, what to do with large noncoding sequences, incidental findings etc.
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@hobsonmwanyalo Definitely, which is called GWAS studies. Now researchers can identify millions of SNPs (unfortunately, most of them are not known and non-coding).
Even if we search for known genes such as BRCA1 and BRCA2, through parallel high throughput sequencing technologies we stumble upon unknown new mutations in the very same gene. That can have a... -
@BelayAbebe '%' was a typo :D '5' and '%' are on the same taster :D
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ahhhhh now I see who you are. Thank you. you can DM me the link :D
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@KarenOliver-Paull Do you think diet can change it? Nothing without supplements?
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@EsmaPhilp I understand. Or even in the case when they had the same sperm donor (could be half-brothers and half-sisters).
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Just clicked on your profile and I feel defeated. I thought I was holding a record in passed MOOCS, then you come with 100+ solely on FutureLearn. How about other platforms? Are there even more?
You slay :D
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Not cure, but therapies do exist...
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A-w-e-s-o-m-e.
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Ivana a.k.a. Science Trainee made a comment
Thank you for this amazing course. One of the best so far. I'm upgrading (this was the last-minute choice and change of plans).
I love unbiased writing and taking all details into account.I'll be back because I 'skipped' going into detail and analyzing resources. Also, there are many more opened questions. Hope to see responses in the discussion board.
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Ivana a.k.a. Science Trainee made a comment
I agree companies injected heavy marketing in order to prove their existence and need for profit but we cannot omit TC testing and say they are trash, right?
Again, I agree, the lay public should not be fooled.
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Ivana a.k.a. Science Trainee made a comment
This is so good.
'We simply don’t know enough about the genetic variation involved in weight gain/loss or diet and exercise to “personalise” advice.'Debunking myths: DTC testing companies try to sell us.
'when it comes to diet and exercise, one size does fit all - knowledge of the DNA sequences inherited from your parents won’t help you.'
Thank you...
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Ivana a.k.a. Science Trainee made a comment
So GCK MODY is a less severe version of diabetes (if I can call it like that).
At least no risk of developing microvascular and macrovascular changes.From what I am understanding in order to get life mortgage and insurance, you need proven diagnosis and clinical symptoms. Having genetic predisposition (and your genetic testing results as evidence) is not...
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If they invited me to take part in health research, I'd accept immediately. I'd probably first discuss with my relatives - not because I am indecisive but because I feel they have rights to know what I am into.
I would be curious and want to know everything. Every single SNP and all their findings.
My genome means my right to know everything about it,...
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While methods such trio sequencing for de novo mutation or looking for mutations in shared genes cohort might reduce incidental findings, what if that same incidental finding may save the life of the patient?
What if the geneticist finds the underlying cause of disease which is connected to another disease whose symptoms hasn't been revealed yet?
To...
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Ivana a.k.a. Science Trainee replied to خلود علي
No, of course not. There are plenty of silent mutations - usually point mutations where purine is replaced with purine or pyrimidine with pyrimidine not changing encoding amino acid.
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Ivana a.k.a. Science Trainee made a comment
Great, that participants have a choice to choose whether they want disclosure about incidental additional findings.
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Mentioning consanguinity in a family, does it mean first cousins had children together? I see on the genetic tree. Yuck.
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Yes , usuallypatients and their guardians contribute to the field of knowledge by doing Internet research.
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Can you imagine that one amino acid deletion can have deleterious effects on phenotype? :(
Also, I wish more research is done in the field of rare genetic diseases.
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Ivana a.k.a. Science Trainee made a comment
So touching story... You go, Tom! You are doing great!
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Thank you very much for this detailed explanation. I feel I can read the results off software now. this is life-saving :D
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So the white balls are molecules which attach baits and desired DNA sequence to magnetic beads. What kind of molecules are those? Also little magnets?
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So before it used to be guessing a gene and after testing it was the confirmation of already set diagnosis based on clinical features, now genetic testing acts as a preventive measure and we can start treatment before the onset of complications?
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That was my first reaction, but I am trying to understand them. Either they are too afraid or there is some financial cost.
For many people, health is last priority ina day, in a year, in their life.
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Ivana a.k.a. Science Trainee made a comment
Thank you for this detailed report. This shows how one wrong letter ends up in the whole wrong phenotype (disease).
Our code is so strict and precise that one 'wrong' letter may kill us.
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Wow, I had no idea this software is way faster than manual checking.
Also, pathogen mutations in transcription factors can be debilitating.
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How cute - baking analogy!
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Ivana a.k.a. Science Trainee made a comment
Thank you for additional links - animations.
Very helpful. -
Ivana a.k.a. Science Trainee made a comment
They are lucky to use automated DNA extraction tool. That speeds up the process and enables analysis of many samples.
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Ivana a.k.a. Science Trainee made a comment
How misdiagnosis can negatively impact someone's life.
But again, diabetes is a kind of disease which is hard to diagnose and treat because of unknown origin.
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I am 'healthy' but easily pass out (because of low hemoglobin levels) .
Imagine how I could survive that situation of having hypoglycaemia. D: -
Ivana a.k.a. Science Trainee made a comment
This is scary '. Being diagnosed with diabetes was bad enough, but watching him inject himself 4 times a day, having hypos to the point we couldn’t leave him alone was a nightmare'
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Ivana a.k.a. Science Trainee replied to Esma Philp
agreed.
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Ivana a.k.a. Science Trainee made a comment
I see how come doctors ignored his hypoglycaemia?
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I like the Diabetes Diagnostic app.
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Ivana a.k.a. Science Trainee made a comment
Thank you, these scenarios are amazing.
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Ivana a.k.a. Science Trainee replied to Esma Philp
agreed.
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1 in 143 chance of having MODY. Did you all get this?
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Ivana a.k.a. Science Trainee made a comment
I do not understand how to define the type of diabetes based on the reference values in this table.
For example, if the patient has 0.4 nmol/l C peptide in the blood (stimulated fasting), and 0.13nmol/l fasting, is that Type 1 or Type 2?
0.4 puts into both categories (less than 0.6 and greater than 0.2), 0.13 is less than 0.25 and greater than 0.08. -
Am I understanding this correct:
You say that you do not have tests for autoimmune antibodies, and then you alter mention testing for GAD6% and IA-2 autoantibodies. Are those genetic tests, not autoantibody tests? -
Ivana a.k.a. Science Trainee made a comment
Since GWAS cannot 'detect' certain gene or group of genes, but just a snapshot of SNPs, does it mean GWAS studies more impose as screening, not diagnostics? Or even if we can use it as a diagnostic tool, we cannot build therapy lonely based on the data obtained from the GWAS studies, right?
At least, generating a polygenic risk score can help us...
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Ivana a.k.a. Science Trainee made a comment
Wait, while doing GWAS studies, they did genetic makeup separated from the phenotype, And after they have realized single-nucleotide frequency in the population, they compared to phenotype.
Control group is the person with Diabetes, and tested one is unknown, right?
Interesting.
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Well yes, you can treat them as point mutations...
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Ivana a.k.a. Science Trainee made a comment
I think genetics plays a crucial role - if all of your relatives are obese (again you cannot be 100% sure you will be also one more obese in the family) but you are most likely to be obese.
Why genes? Because of genes code for everything. If they are expressed, it affects phenotype. However, there is also an epigenetics.
The environment is definitely...
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Thank you for the paper.
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@DavidTash so SNPs is just nucleotide variation, regardless of where is it present (one, two, several genes, etc).
True, they can only measure SNPs, and that is enough. Because by comparing to 'reference' genome it can help us identify which SNP is cause (regardless of whether it is monogenic or polygenic).
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When it says 'lifestyle caused' it means - epigenetics, right? How environment affects gene expression. However, having unhealthy lifestyle does not per se lead to Diabetes (only in people predisposed) meanign those who have genes which could be easily expressed.
(well drinking 20 cans of Cola a day definitely leads to Diabetes no matter of genetic makeup).
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Thank you for this detail, I haven't known so far...
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There could be genetic tendency to insulin resistance - e.g. our parents have, then you develop it (but later in life). Just different gene set (than in case of Type 1) are into th play.
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Ivana a.k.a. Science Trainee made a comment
Science plays a crucial role in the development of personalized medicine.
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Genomic medicine and personalized medicine is the future.
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Agreed.
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Thank you for the resources.
Now, what is left for me is to find out which type of diabetes my parent has, so I can know my chances. Although I am prepared not to freak out if it develops in my body.
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Ivana a.k.a. Science Trainee made a comment
I wish Mitochondrially Inherited Diabetes as a topic of research receives more attention.
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Ivana a.k.a. Science Trainee made a comment
Alarming situation! one in 15 adults glucose intolerance and 1 in 7 babies gestational diabetes.
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What's that type 4 medically induced diabetes? Is that a real thing? wow...
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So what you mean is that exogenous insulin is actually more aggressive to the body?
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I see that is unrelated to KATP channels..
Very interesting, do you have link to that study, I'd rather read it?
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Is that me, but I consider him 'lucky' - he at least does not have insulin resistance.
While people who have insulin resistance rely solely on insulin injections... -
Ivana a.k.a. Science Trainee made a comment
Fascinating to find out it includes two types of channels.
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@EsmaPhilp Thank you for your story.
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Wait, so point mutation is an underlying cause of developmental difficulties and diabetes?
How comes?
it says p... is that shorter arm of a chromosome? -
It is good if it is monogenic. At least now we know the cause. Does there exist Diabetes as a polygenic disease?
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Ivana a.k.a. Science Trainee made a comment
Oh my... I'm crying now...
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Ivana a.k.a. Science Trainee made a comment
THANK YOU to the educators, and all parties involved in this course.
I thought this would talk about technical parts and pure science, but this was more ethics-based (which is trust me, very important if you want to tackle into this field).
Love for this course :D
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Ivana a.k.a. Science Trainee made a comment
I was biased towards genome editing, and even though this course was unbiased and let me hear the perspective from opposing sides I still support the genome diting and all technologies it brings.
I will always be team molecular biology and biotechnology (biomedicine), especially personalized medicine.
I am in awe for the UK approach: regulation and...
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Ivana a.k.a. Science Trainee made a comment
I wholeheartedly hope these ideas will see the bright future and become common practice.
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That's nice that it is covered by Horizon 2020 project...
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Ivana a.k.a. Science Trainee made a comment
Montenegro will not be ready in the next 50 years.
We take years to accept legislative form the EU and transform our legal system, while the nation is even slower and full of stigma. We do not have science, our Universities operate and educate on a ridiculous level. Poverty and unemployment change people's mentality and make them be more judgmental, impatient...
