August 29, 2023
February 22, 2023
It has been 40 years since the Orphan Drug Act was passed by the United States Congress to incentivize the development of treatments for "orphan", meaning rare, diseases. In 2022 Congress also passed the Rare Diseases Act to amend the Public Health Service to form an Office for Rare Diseases within the National Institutes of Health. One of the research areas within my laboratory targets orphan inherited pediatric retinal diseases. Diseases rarer than Retinitis Pigmentosa (RP) which is itself considered rare. These conditions include FEVR (Familial Exudative Vitreo-Retinopathy), Norrie Disease, Persistent Fetal Vascular Syndrom, and Retinoschisis. The first three conditions cause incomplete development of the blood supply for the neural retina within our eyes, causing blindness. The latter condition results in a very delicate neural retina where the layers of the retina can separate and become filled with liquid. This condition also causes blindness. All of these orphan diseases affect infants and children of all ages. Our lab at Oakland University, in the Eye Research Institute, carries out research DNA-sequencing for Families with these conditions who present at Associated Retinal Consultants here in Michigan. Families are from all over the country and also outside of the United States. Funding is difficult to find for rare disease research, but we seek support from a few private foundations so that no Family pays for the research DNA sequencing that we do. OU science students and OUWB medical students take part and learn about applied human genetics.
In North America, the National Organization for Rare Disorders (NORD), is a partner with several similar regional organizations to facilitate awareness and support for rare diseases around the globe. While rare diseases may have fewer affected persons, there are many different rare diseases and together they impact over 300 million people around the world. Do you have a rare disease or know someone with a rare disease? Seeking information? Please visit the NORD website. Please also share this blog post to increase awareness. February 28th is Rare Disease Day in 2023.
PS Thanks to the Carls Foundation and Pediatric Retinal Research Foundation of Michigan for making our lab's research DNA-sequencing for Families possible in 2023.
December 16, 2022
Twitter under Musk has Suspended Core American Reporters from our Free Press, and this Scientist has Suspended Twitter by Quitting it.
I have decided that my participation in Twitter is now simply helping Twitter under Musk operate as he promotes anti-democratic groups, and racist groups, and has now blocked important access of real American Journalists who make up our Free Press.
So this day, December 15, 2022 is my personal day of infamy when I not only uninstalled the twitter app from my devices but I canceled my twitter account as long-term user of well over a decade. I now have a Mastodon server-based account at https://techhub.social/@kpmitton and am already enjoying the democracy and values of like-minded individuals. No ads, no crap, just people like me who want to make the world a better place, but on a platform were no billionaire crazy autocrat can interfere with our communications.
Check out my previous post here on The Science Rant if you want to know how to get rolling in the Mastodon environment. Most of the journalists that I follow, and scientists, and entertainers have accounts in the Mastodon Fediverse too. I really like the Mastodon App and its functionality. No control forcing things into my feed that I do not follow, no ads. For my chosen Mastodon homebase, techhub.social, many of us who use this node donate a modest few dollars per month to our server manager's Patreon fund and we are ad-free and in control of our own worldwide communication and sharing. It is like supporting public radio. It belongs to us and Musk can simply go sit on it. Twitter will be filing for bankruptcy early in 2023.
Looking forward to 2023. Stay safe out there. Get those vaccinations and take care of each other. Welcome to the Dolphin crowd. Dolphins work together, they even kill sharks who try to hurt them. Swim smart out there.
November 20, 2022
Mastodon, how do I move in?
So, you are on Twitter and have used the platform for many years like I have. (I was @kpmitton on Twitter for 12 years) Now we have had to deal with conmen, conwomen, narcissistic ex-presidents, white supremacists, liars, Nazis, anti-democratic power mongers, bigots, racists, and Elon Musk banning real free speach. So we all would like a place where the servers are not owned by one company, or one billionaire, and where fake news and misinformation are not permitted. That is where Mastodon servers were born designed to take the best of the earliest forms of networking on the Internet when it was mostly UNIX-based, command-line computers and accounts. Think nodes, think neurons, think decentralized networks, yet think also about being able to follow and be followed by anyone with an account on any of many Mastodon servers. Still able to have followers as you could on Twitter but Elon Musk and Donald Trump have no say at all about the Network nor can they permit hate and lies with the excuse (used wrongly) of freedom of speech. This is how Mastodon works. Imagine following other people and posting your own short thoughts just like twitter but there are NO ads. Imagine that you get to pick and choose all that shows up in your feed. Twitter was like that for its first three years. Where can you find this wonderful twitter replacement. Where do you find it, and how do you join it? It's as easy or as hard as it was when we all joined Twitter. We may fumble around a for a few days until we get the hang of it, but here is how to get there and how it works. It is no more complicated than Twitter, but better moderated by its users. That would be you and me. It does not run on commercial advertising revenue and it is not governed by algorithms that companies can pay to control who and what you see in a 1984 senario. How? Read on.
Mastodon is really the communication protocol that people use to set up servers which are called "instances" or "Mastodon Instances". They are really similar to different people having their own websites on their own servers. For social interaction and communication, it is like having many Facebook servers and different people grouped on different ones. This is kind of true about the Facebook platform. Yet everyone can connect with each other in Facebook. You are oblivious to the fact that you and your best friend may have Facebook accounts that are residing on completely different servers. However, Facebook controls it all, they own rights to use your words and videos, and images as you store them there for free. They can also change the name of the game, and the rules of the game at any time and you have no control over it. If Facebook decided to start charging $10 a month for your Facebook account, they could, they are a private company, and fundamentally a business that exists to make a profit. Same for Twitter, Instagram, Snapchat, and WhatsApp.
In the Mastodon universe, you see and know what server your account resides at. It is like your server is a particular town or city and your username is also linked to that address. Mastodon users with accounts on other servers can find you by searching your user name (kpmitton for me), or they can directly find your account with your full address. My "town" server is called "TechHub.Social" and it was started by a guy named Nic. A programmer.
BEFORE you make an account browse the servers, or instances, available. Servers have been set up in this new social network by persons with various interests, so you may find one that is for journalists, or technology persons like myself (there were no bioscience ones, but biotech is tech too). These servers can often be joined by anyone, even if you are not a techno geek you are welcome to join Techhub.social. Do not rush, servers are not going anywhere. Then pick one and make an account for yourself. Again, you can start from the phone apps for Mastodon (in the Apple Store, or Good Play) and they will let you pick your user name, register your email, and be associated with one of the many servers now set up around the globe. Even some companies and institutions and newspapers are setting up their own Instances (servers) using Mastodon's open-source code. Servers have been set up for different parts of the globe, different work interests, arts, humanities, social connections, disabilities, and different Human Communities. No Nazis though. Not permitted.
If you want to use a website from your laptop, you can join Mastodon at joinmastodon.org . Again, do not be confused by all the server instances. No matter which one you join, you will have access to the entire collaborative community. If you are a photographer or editor, you may want to join a server that was started with your community in mind. A good place to make contacts with others who have your immediate interests. (Currently, 11/20/2022, there is NO mastodon.org. That domain is reserved but not used. Use JoinMastodon.org for web browsers.)
I chose to join TechHub.Social, an instance of Mastodon server set up by a fellow Canadian. (Turns out he is from Quebec. I was born in Quebec as well, but alas, I am an Anglophone Quebequois, not very French. But I bet we both like the Habs? Maybe we both like St. Viature Bagels in Montreal?) The Mastodon Apps are just like the Twitter apps in your hand. You see your posts (Toots I call them, elephants and mastodons toot, right?), and who you follow and who follows you. On my laptop here is the web version of my view right now using the "Light" colored option:
1) Use Mastodon App to set up your account, or go to the JoinMastodon.org website.
2) Browse around the different community interest servers (instances) available around the globe. Most let anyone join, but you may find one already started by persons in your career, hobby, or other interest. Some are just for social networking. It's kind of nice to belong to a specific server, yet be fully connected to the full network.
3) Make your account on the Mastodon instance (server) you choose.
4) Just like Twitter, Instagram, and Snapchat, edit your profile and add some information.
5) Send your friends your user name in Mastodon and invite them to join and find each other.
6) I am @email@example.com (my account is based on the server with the domain name TechHub.Social, and it links and communicates in the greater Mastodon federation).
7) Enjoy no ads, and no longer have Elon Musk control what you see or follow. Also enjoy a place where it is not permitted to participate if you post misinformation or promote hate, antivaccine information, and other such harmful activity. LGBTQ community is welcome and attacks on persons or communities are not allowed to participate in the Mastodon network.
8) Follow George Takei, just search for him. Your very first nice person.
Remember. You can be your own scientist. Knowledge is power.
November 14, 2022
A COVID19 virus walks into a bar and asks the masked bartender for a dark draft beer, hands $5 to him, and watches the game on the TV. COVID finishes his beer and goes to the bathroom, and returns to find $5 beside his glass refilled with beer. Amused, but pleased, COVID enjoys a second draft, and hands the $5 to the bartender again. Soon COVID heads off for another bathroom break and returns to find his beer glass again full and the $5 again. "What, did I win free beer today or something?", he says to the barkeep. No, you are just really popular with those two guys over there in the corner booth and they insisted to pay for all your drinks. COVID turned around, letting eyes adjust to the dimly lit corner booth, and who did COVID see?....
April 27, 2022
As a biomedical scientist, who also blogs, I get many questions from people around me concerning getting vaccinated for COVID19 and now more often about masks. Which mask? Do I need to mask? Where do I need to mask? Do they work? Should I just let myself get COVID19 to gain natural immunity? Is that better than vaccinated immunity?
As far as immunity goes, I have two doses of Pfizer and two doses of Moderna now. Yes, I have the second booster just a few weeks ago, and yes I wear a mask and an N95 one at that when I am in crowded indoor spaces. I will be wearing an N95 mask in airports and on aircraft and in convention centers.
Most importantly, I made the decision to wear an N95 mask because of my own skill and knowledge set as a career scientist and inventor with over 25 years of lab time under my belt. I understand DNA and RNA, how to put RNA into cells (like the RNA vaccines do), and how RNA is used as a template to make protein and all that stuff. That is what I do for a living. I have even designed a genetic test panel that we use to DNA-sequence kids with very rare inherited retinal conditions to determine the changes in their DNA that cause their medical condition.
Let me be clear that I fully understand that currently there are no laws that force me to wear a mask at all here in Michigan, Oakland County (my work), and Macomb County (my residence). I choose to wear an N95, and so far I am one of the 45% or so of people in the United States who have not been infected with COVID19. This last point is the reason I wear an N95.
Most of us know many people who have both survived or died from COVID19. I also know many vaccinated persons who just had the "COVID19 cold", and they certainly fell into the "survived" category because they were vaccinated. However, I also know more persons around me who "just had a bad cold", but about a month later strange problems and long-covid symptoms have cropped up in their lives. Things like headaches, insomnia, foggy brain, constant exhaustion, and transient spells of extremely high blood pressure that leave them unable to walk without assistance for an hour. All of this explains two of my personal decisions for my own health:
1) I chose to get vaccinated to get immunity.
While COVID19 infection and even repeated infections will spark your immune system into action, they are infections and real COVID19 virus still forms in your body and kills and disrupts several cell types of many different organs in the body including lungs, intestinal tract, sinus neurons (smell), and even our brains. I get a better immunity from the vaccines and avoid the dangers of the virus. Its a no brainer for me. I am over 50 and qualified for the 2nd booster, which I have now.
2) I chose to wear an N95 because I do not want a "COVID Cold".
An actual COVID19 infection, even if we have some immunity already, brings to me some risk of developing a new long-term medical condition. As a male who has entered his 60s during this pandemic and who makes a living using his brain to investigate human biology, disease, and design potential new therapeutics, I really need an "unfoggy brain". There are computer scientists, engineers, and medical scientists who have had to take leave from their careers because of neurological symptoms left to them by COVID19. I do not wish to risk being in that situation, even if the risk is tiny. Being told you have a very tiny risk becomes moot if you are one of those who end up in the very tiny "unlucky" group with neurological problems.
So, when will I stop wearing my N95 mask in some higher-risk situations?
When the high risk goes away. I will base that on my risk of getting exposed to the latest strain of COVID19 going around. Currently, that is still a very significant risk. It is currently a higher risk than we have of getting the flu in most years. Once all the unvaccinated people around my part of Michigan eventually get COVID19 and some immunity, the extent of active COVID19 in the community will get low enough that I will consider taking off the N95.
With warmer weather, I am going to favor eating outside at restaurants, and attending outdoor events and festivals. I will still pop my N95 on when I go into Starbucks to pick up my coffee, and I will watch the data available for Michigan from testing. Unfortunately, the extent of active COVID19 is harder to judge now as many states have stopped a lot of their testing efforts. However, there is good data from watching current hospital ER and admission data.
I am simply going to err on side of caution so I avoid COVID19 itself if possible. That is good for my health and it also reduces the risk of a family member getting an infection transmitted through me. Just because a very conservative judge decided to block a Federal CDC mandate to require masking on airplanes does not change the science of the situation. A good mask, N95 is best, serves to stop the spread of respiratory diseases like COVID19 and many more that have plagued humans over time. COVID19 will mindlessly, robotically, continue to spread in the very automated ways that all viruses spread and if you do not have an N95 in a crowded venue then you choose a higher risk of infection. So be it. COVID19 cares not about anyone's politics. In general, illnesses and diseases do what they do regardless.
So it's my choice for my health, based on how my science brain thinks, to wear an N95 mask. If you choose to be riskier then I wish you good luck. I really hope for the best for everyone, but you will be rolling a pair of dice that are different than my pair of dice. Your dice will have more than one side with one dot and your chances of rolling "snake eyes" will simply be greater than mine.
Good Luck to us all.