If that’s okay I would like to ask the HN community for their advice on a personal matter.
My beautiful daughter Nil (3yo), has a rare genetic disorder called Kleefstra Syndrome (KS). She cannot walk or talk at this point. Doctors believe she will walk eventually, but speech they are not so sure about. KS involves partial chromosome deletion (or sometimes mutation) of a particular gene, EHMT1, which in turn causes a protein called GLP not to be produced. Moderate to severe Intellectual disability, limited/absent speech are some of the symptoms.
KS was first “discovered” in 2010. Thanks to “whole genome sequencing”, it is now possible to diagnose KS with a single draw of blood. Maybe that’s why we are hearing about KS kids more often in our community.
Still, several potential treatment modalities need to be explored in depth. Antisense Oligonucleotide Therapy (ASO), gene therapy (CRISPR), drug repurposing are a few modalities to name.
Known KS individuals sum up to only a few hundred patients so far. When the patient count is so low, pharmaceutical companies are not interested in pursuing research for that disease, so patient organizations are forced to fund their research themselves. This has been done by several rare disease patient organizations before. Batten Disease (Beyond Batten Disease Foundation funded $35M research), Angelman Syndrome (Fast Foundation funded $26M research), SMA (Cure SMA funded $35M research), all funded successful research and managed to reach clinical trial level.
Sorry about the extra-long intro, but I wanted to provide context for this relatively “new” genetic disease which is hardly known. Since HN has members with extensive digital marketing experience, I’m hoping you would share your ideas with us. Long story short, if we can manage to raise several million to kickstart multiple types of research in parallel, then we can offer these kids a chance.
My first idea is about co-hosting a series of Instagram live streams with celebrities to ask for donations for research. I’m not sure if this is already a solid fundraising technique? Also, I don’t know the first thing about finding celebrities as well.
A second idea is, recording a youtube video and promoting it using google ads grants.
At this point, we want to leave no stone unturned about fundraising.
So here we are. Any advice would be greatly appreciated.
The first page of results contains various websites that, on the surface, contain the quoted sentence but on closer inspection, contains the entire original content from montana.edu verbatim. Additionally, the first 5 results are from sciencedaily.com, with different titles for each result and were created (supposedly) over the past 10 years or so.
Now if you go to the second page of results, the majority of results are now sciencedaily.com but by exploring the links, you find the phrase is embedded as a link to articles first shown as results on the first page of google search results.
I thought this was interesting so I attempted to look up what might be another widely copied type of sentence across websites to see what other articles are copy and pasted everywhere, example from https://www.activistpost.com/2013/09/22-medical-studies-that...:
"The vaccine-autism debate has been going on for years. It has been a tale of shifting beliefs as child vaccination rates remain high"
In this case, searching this sentence, quotes included, yielded results as before highlighting the sentence in almost every result that I found but the article itself was not copy and pasted verbatim as before.
In any case, thought this might be interesting to share. Perhaps this show the futility or limitations of searching this type of content or it may also show how many websites are merely reposting noteworthy content in order to generate clicks or mislead people into thinking their website is legitimate when it comes to scientific data or studies.
After discovering Sci-Hub I am excitedly diving back into reading academic papers. Fellow HN denizens, what do you use for finding papers that interest you?
I have used sciencedaily.com for general news that sources directly from articles and journals, is there anything similar around for other areas, or niches, maybe something like a website or newsletter with articles of interest? For instance I enjoy reading research papers around political science and international relations, but also would love to explore things around UI/UX.
Previous article about the engine (from 2011) http://www.sciencedaily.com/releases/2011/10/111006084023.htm.<p>Video from the tests: http://www.youtube.com/watch?v=RP48Eb4lr54<p>Surpsisingly engine worked at the first try in simulated space conditions :)<p>Engine has mass of 4kg, and length of 12 cm. It' meant for adjusting orbit and manouvering in space of probes with mass around 100 kg.<p>It uses krypton (33$ per 100g) instead of Xenon (120$ per 100g) as propellant so should be much cheaper, while it's simillary efficient as other thrusters.
I'm ultimately looking for a reason why this hypothesis is wrong. It is partially about the role of tech during the pandemic.
Assuming it is generally accepted that COVID originated in bats, then it's reasonable to look at characteristics of bats that are unique. Perhaps even find a correlation between the behavior of bats and humans.
Bats are nocturnal. Most species of bats never get sunlight. One study I found as an armchair researcher points to evidence of a vitamin D deficiency in wild bat populations: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897589/
Here is a study done back in may about Vitamin D levels and the severity of COVID: https://www.sciencedaily.com/releases/2020/05/200512134426.htm
Now consider the changes in human behavior as we have become glued to technology.
We stay inside more, we avoid the sun at all costs. This means we all likely have lowered vitamin levels (Vitamin D and Calcifediol specifically).
To top all of this off, our response has been to stay inside even more than we used to, allow tech to dominate all areas of our lives, thus worsening the problem. Also consider the populations hardest hit, there would be vitamin D absorption problems as well. Consider senior citizens who likely stay inside even more than the rest of us. This would explain some of the death rates in nursing homes when compared to the larger senior population.
Is it possible we have basically trolled ourselves with our technology addiction and the solution to this current problem is to just go outside? It can't be that simple right?
EDIT: Here is a link I just found in another thread on Hacker News showing a correlation between the two: https://www.medrxiv.org/content/10.1101/2020.06.01.20112334v1
I noticed for a long time that I get really relaxed and focused when doing the dishes which carries over for couple hours afterwards. Does anyone else experience this? I also did a quick search and found this:
My beautiful daughter Nil (3yo), has a rare genetic disorder called Kleefstra Syndrome (KS). She cannot walk or talk at this point. Doctors believe she will walk eventually, but speech they are not so sure about. KS involves partial chromosome deletion (or sometimes mutation) of a particular gene, EHMT1, which in turn causes a protein called GLP not to be produced. Moderate to severe Intellectual disability, limited/absent speech are some of the symptoms.
KS was first “discovered” in 2010. Thanks to “whole genome sequencing”, it is now possible to diagnose KS with a single draw of blood. Maybe that’s why we are hearing about KS kids more often in our community.
We have a non-profit foundation based in the US ( https://www.idefine.org ) to improve awareness and lead/fund potential research for KS. Also, there are already two active pieces of research that provide potential improvement for these kids. One explores drug repurposing ( https://www.nature.com/articles/s41467-019-12947-3 ), the other is about supplementing the missing proteins ( https://www.sciencedaily.com/releases/2021/09/210921100245.h... ). Both have very promising results but are not close to clinical trials yet.
Still, several potential treatment modalities need to be explored in depth. Antisense Oligonucleotide Therapy (ASO), gene therapy (CRISPR), drug repurposing are a few modalities to name.
Known KS individuals sum up to only a few hundred patients so far. When the patient count is so low, pharmaceutical companies are not interested in pursuing research for that disease, so patient organizations are forced to fund their research themselves. This has been done by several rare disease patient organizations before. Batten Disease (Beyond Batten Disease Foundation funded $35M research), Angelman Syndrome (Fast Foundation funded $26M research), SMA (Cure SMA funded $35M research), all funded successful research and managed to reach clinical trial level.
Sorry about the extra-long intro, but I wanted to provide context for this relatively “new” genetic disease which is hardly known. Since HN has members with extensive digital marketing experience, I’m hoping you would share your ideas with us. Long story short, if we can manage to raise several million to kickstart multiple types of research in parallel, then we can offer these kids a chance.
My first idea is about co-hosting a series of Instagram live streams with celebrities to ask for donations for research. I’m not sure if this is already a solid fundraising technique? Also, I don’t know the first thing about finding celebrities as well.
A second idea is, recording a youtube video and promoting it using google ads grants.
At this point, we want to leave no stone unturned about fundraising.
So here we are. Any advice would be greatly appreciated.