In this month’s blog post, our CEO, Katrina Burchell, explores the impact of Nobel Prizes on Pernicious Anaemia and what the future might hold for this lifelong autoimmune condition.
The Problem: When the “Police” Overreact
Your immune system’s job is to tell the difference between “you” and “germs.” For a long time, doctors thought the body simply killed off any “bad” immune cells that might attack its own tissues.
However, we know that in autoimmune diseases, the body does attack itself. This suggested that something was missing. If the body was a car, scientists realised it didn’t just need an engine to go; it needed a reliable set of brakes.
The Discovery: The Body’s Master Brake
The 2025 Nobel Prize recognises the discovery of Regulatory T cells (Tregs). Think of these as the “Master Controllers” or the “Police” of the immune system.
- What they do: They patrol your body and actively stop other aggressive immune cells from attacking your healthy tissues.
- The Big Shift: Scientists now realise that autoimmune diseases (like arthritis or MS) aren’t just caused by “bad cells” existing; they happen because these “brake cells” have failed to keep the peace.
The “On/Off” Switch: FOXP3
Following the discovery of these brake cells, researchers found a specific gene called FOXP3. This gene acts as the master control switch.
- If this gene is broken, the body has no brakes, leading to severe illness.
- If this gene is working, it allows the body to create the “police” (Tregs) it needs to stay healthy.
Why This Matters for the Future
This discovery changes how we should treat autoimmune diseases. Instead of just managing symptoms, scientists are working on ways to:
- Fix the brakes: Repair the faulty system.
- Engineer new cells: Take normal immune cells and use the FOXP3 gene to turn them into “Super Tregs” that can be put back into a patient to stop the autoimmune attack.
Pernicious Anaemia is the perfect example of why this new 2025 Nobel Prize matters. PA is an autoimmune disease where the body’s immune system mistakenly attacks the stomach lining and Intrinsic Factor. These attacks destroy the body’s ability to absorb Vitamin B12, which can lead to severe nerve damage and exhaustion.
For nearly 100 years, Nobel Prizes have marked progress in fighting this disease:
The Three Pillars of Progress
1934 The Life-Saver
Before this, PA was a death sentence. Doctors discovered that eating large amounts of liver could keep patients alive. It treated the consequence (lack of B12) without knowing the cause.
1964 The Map
Scientists mapped the exact chemical structure of Vitamin B12. This allowed us to move away from eating liver and move toward standardised B12 injections.
2025 The Off-Switch
This latest prize explains the root cause. Instead of just replacing the B12 you can’t absorb, do we now have the blueprint to stop the immune system from attacking the stomach in the first place?
Why This Could be a “Game Changer”
Currently we can only manage the symptoms by giving B12 injections for life. The 2025 discovery offers a different goal: stopping the attack and the damage it causes.
Unfortunately, Pernicious Anaemia rarely makes the list of conditions to explore for such exciting breakthroughs. But if further research into autoimmune conditions and the “brake cells” continues surely there is room to explore how to:
- Stop the immune system from destroying the stomach lining and attacking Intrinsic Factor.
- Prevent the long-term risks of stomach cancer associated with PA.
- Potentially eliminate the need for lifelong injections by fixing the underlying problem.
The Importance of “Big” and “Small” Science
While Nobel Prizes celebrate “Big Bang” discoveries, your daily health also depends on “Small Science” where the work of the Pernicious Anaemia Society continues to focus. This includes:
- Better Testing: Improving how we diagnose Pernicious Anaemia so patients aren’t ignored or misdiagnosed.
- Easier Treatments: Finding better ways to deliver B12 that are more comfortable than constant injections.
- Better Education and Awareness in health care professionals and joint patient doctor treatment decisions.
- Patient Voice: Working with groups like CluB-12 ensure that researchers focus on what is important.
The Road Ahead
We have moved from a “death sentence” in 1934 to “lifelong management” today. With the 2025 breakthrough, could the next chapter of the story be moving toward stopping the condition entirely?
It is my 2nd anniversary of being diagnosed with Familia PA. I take my injection every 3 days for these 2 years. I have greatly improved. Anger issues – so unlike me – led me to ask questions and push for results. Now my daughter has anger and delusional issues due to Familial PA. Only because partly I was able to tell her as she said so any cruel things to me that ” it’s ok, I understand. This is what I told yo would happen. Try to stop being angry, like I told you, you won’t be able to. Tomorrow you will feel better. I love you. It is ok. Only someone who has experienced this will understand and I understand”. My question: Why are doctors not administrating B12 tests more often or as part of their CBC. And why why why are more of the mental issues attributed to PA not being put out there. I thought my daughter was a drug addict until I started having the same issues and was eventually diagnosed.
Researching PA there was a mention of “irritability”. That did not fit the picture. Digging deeper I found phrases like “Megolablastic Mania”, “Neuropsychiatric Rage” . Suddenly resolve, I have an answer but it’s hard to tell people that it was b12 and I am so sorry I was so mean to you and said those cruel things to you. I have heard that I “am making excuses”. Please give me some answers. I am a lucky one. I have been able to turn my life around. I am able to help my daughter turn her life around but it’s too late for some of my siblings that suffered. Looking back I realize why my younger brother was delusional and my older brother was mean and my sister, broken and ill. Bring this out…bring it out because it just seems like we are mean and or crazy or just sick as our lives fall apart and those that we love no longer want to deal with our insanity. I do not want those that I love to think that person they experienced for several years is me. She is not.