This year marks the 13th Anniversary of World DNA Day (WDD-2025) and the celebration of National DNA Day on April 25th. The 2025 theme – “Unlocking the Power of Gene” – underscores the transformative role of genetics in shaping the future of healthcare.
Unlocking the power of genes is crucial for individuals living with inherited lipid conditions such as familial hypercholesterolaemia (FH), familial chylomicronaemia syndrome (FCS), elevated lipoprotein(a) [Lp(a)], and homozygous familial hypercholesterolaemia (HoFH). Genetic research and testing play a vital role in identifying, treating, and preventing these conditions, leading to better health outcomes and improved quality of life.
On this International DNA Day, we are thrilled to highlight the incredible collaboration of the FH Europe Foundation and European Projects, in advancing the diagnosis and treatment of familial hypercholesterolaemia (FH). This day commemorates the discovery of DNA's double helix and the completion of the Human Genome Project, both pivotal moments in genetic research.
To further illustrate this progress, we’re proud to showcase several FH Europe Foundation-led European projects that are driving innovation in the early detection and personalised care of FH and related conditions:
FH EARLY Project: A groundbreaking initiative aimed at revolutionising the early diagnosis and co-management of FH. Supported by Horizon Europe, this project brings together experts from across Europe to address the urgent needs of FH patients through innovative solutions.
PERFECTO: Preventing the Preventable – Familial Hypercholesterolaemia Paediatric Screening for Cardiovascular Health. This landmark initiative focuses on personalised prevention, tackling the often-overlooked genetic cause of cardiovascular disease through social innovation. PERFECTO aims to implement FH paediatric screening across Europe, generating evidence that supports early intervention and prevention strategies.
PerMedFH: Personalising diagnosis and treatment for FH patients. This project focuses on tailoring healthcare strategies to individual genetic profiles, ensuring more effective and targeted interventions. By identifying specific genetic variants, PerMedFH hopes to enable personalised care that addresses the unique needs of each patient, improving treatment outcomes and reducing the risks to individuals.
Beyond FH, unlocking the power of genes has meaningful implications for other inherited lipid conditions as well. Let’s take a closer look at how genetic testing supports identification and management for FCS, HoFH, elevated Lp(a) and HeFH.
For more information about FCS and the impact it has – watch FH Europe Foundations webinar:
You can find more patient stories and updates on our website and YouTube channel.
Why genetics plays such a big role for HoFH:
Learn more about HoFH and the role of genetics in treatment through our awareness day trilogy:
FH Europe Foundation also brought experts to the table that shows that testing for genetic conditions is cost effective both in monitory value and people's lives:
Understanding the difference that a genetic variant can make:
As we celebrate International DNA Day on April 25th, we also look forward to HoFH Awareness Day on May 4th. HoFH Awareness Day underscores the importance of resilience and strength, echoing the themes of overcoming adversity. By linking these two significant days, we highlight the critical role of genetic research in understanding and managing HoFH. Early genetic screening and diagnosis are vital in preventing severe cardiovascular events and improving the quality of life for those affected by HoFH.
Join us in celebrating the power of genetic research and the strides we are making towards a healthier future for all. Together, we can make a difference! 💙
Read more about World DNA Day here.
I feel like this is where we sit in a circle of chairs and I get up and say: “Hi, my name is Marius Scheepers, and I have Homozygous Familial Hypercholesterolaemia” …
This year I turn 52. I am blessed with an amazing wife and kids (11-year-old twins). Life has always been a bit of a rollercoaster between peace and frustration about why I have this condition and the impact it has had on my life. I’ll share more on that in a bit.
I hope there’s no judge or jury around as the following is hearsay: I was initially diagnosed at the tender age of 2, according to my mum. She noticed I had some yellow growths on my heels and, being a nurse herself, took me straight to our GP – this was back in 1975.
My mum told the GP I had warts and asked if they could be removed. He turned around and said he thought I might have a cholesterol problem – and as they say in the movies, that’s where my journey began.
We were referred to the Johannesburg Children’s Hospital (yes, South Africa – another story for another time). There, we met Dr Harry Seftel. After some blood work – and a two-year-old only has a limited supply – it was confirmed that I had Homozygous Familial Hypercholesterolaemia and was the “beneficiary” of the Double Afrikaner gene. As payback, my parents were also subjected to needles and tubes of blood being drawn, which confirmed they both carried the Single Afrikaner gene. So I was the (un)lucky one. My older brother was also diagnosed with the single.
Over the last 49 years, I’ve been on numerous cholesterol-lowering medications. My earliest memory was the dreadful Questran – if you’ve had it, you’ll know exactly what I mean. I officially became a guinea pig, participating in trials for medications I can barely remember. I have faint memories of high-dose vitamin E, which was like chewing Smarties – though not as tasty.
I spent more time in clinics than at school (which, to be fair, most kids wouldn’t mind), but having needles stuck in my upper arm every two weeks due to a shunt for apheresis was not exactly a fun day out.
In 1988, four of us were fortunate enough to travel to the USA to take part in a trial for a new drug identified during chemotherapy treatment, which showed LDL-lowering effects. For a few weeks, we had a central line inserted and were fed the drug using a device that looked like a Walkman (this was the '80s – no iPods back then).
Around that time, statins emerged – a real breakthrough, delivering reductions rarely seen before. Progress accelerated through the ’90s into the new millennium. Then, around 2015, came another game-changer: PCSK9 inhibitors. I still remember learning how to inject myself – the nurse gave me an orange to practise on. I thought, Wow, that’s a nice change from the usual biscuit at clinic! But I didn’t get to enjoy it. I wiped it with an alcohol swab, injected it with copious amounts of water, then prepared to inject myself. It felt like an episode of Fear Factor.
My school and formative years were hugely affected by the many treatments I had – missing classes for appointments and early morning blood tests. It put me at a disadvantage academically, though I can’t blame everything on HoFH.
I did become quite rebellious about the condition. At age nine, I lost my dad to a heart attack. He was only 43 – in the prime of his life. Losing him was a massive blow, especially being told I might not live to see 18. I wasn’t allowed to do contact sports or overexert myself. No rugby. No cricket (though I played anyway and even made the first team at primary school). I ended up playing chess… Is that even a sport?
Speaking of rebellion – when I left school and moved out, I joined a cricket club and played every weekend. I was a wicketkeeper until the age of 31, when reality hit. I had to undergo triple bypass surgery. My body had had enough. That was a huge wake-up call – and five years later, I needed an AVR (Aortic Valve Replacement).
During those tough years, I met the most incredible, compassionate, and strong woman. She supported me fully, accepted both me and my heart condition – including Homozygous Familial Hypercholesterolaemia. She gave me the greatest gift of all: our twins. They are the absolute apple of my eye.
So how did HoFH affect my career? I worked my way up in my first job – from Purchasing Manager to General Manager – back in South Africa. Work always has its ups and downs, but I was always honest with my employers about my condition. Whenever I had to go for tests, I’d pre-arrange early appointments so it didn’t interfere too much.
I moved to the UK in 2018 for work. I was upfront in my interview – not because they asked, but because I felt it was important. In August 2020, at the height of Covid-19, I had my first heart attack. It was a complete shock – for me and for my wife and kids. I was on a work visa, so if something happened to me, they’d have to return to South Africa – where we had no safety net. My workplace was fantastic – supportive, compassionate, and made sure I only returned once I’d fully recovered. They also supported my family throughout.
One of my biggest dreams growing up was to become a pilot. I’ve always loved aviation. But with HoFH, I’d never pass the medical exams required to be a commercial pilot. So I did the next best thing: flight simulation. It’s been my hobby for many years – the dream just changed shape.
Now, at 51, after a lifetime of drug trials (it's a wonder I don’t glow in the dark), I stand proud – like the Eiffel Tower – a beacon of LIFE. During Covid-19, I lost both my mum and brother. So after being told I wouldn’t see 18, here I am – the only one still standing from my immediate family. For that, I thank God.
Medical science is progressing at such a pace – new treatments and breakthrough drugs are becoming increasingly common. I believe a cure isn’t too far away. The possibilities ahead are truly exciting.
What are my hopes and dreams?
I think I’m already living them.
Limassol, Cyprus – 10-11 April 2025 – The picturesque coastal city of Limassol played host to the FH Europe Foundation's first in-person Ambassador Programme training event, a landmark gathering that brought together patient ambassadors, healthcare professionals, patient organisations and policy advisors from across Europe. Held under the auspices of the Cyprus Ministry of Health, the event was a resounding success, marked by insightful discussions, comprehensive educational sessions, and vibrant networking opportunities.
The event commenced with a warm welcome from Magdalena Daccord, CEO of FH Europe Foundation, Assoc. Prof. Andrie Panayiotou on behalf of Cyprus University of Technology, and Elsie Evans, Ambassador Programme Manager. Their opening remarks set the tone for the two-day training, highlighting the importance of advocacy in raising awareness and advancing the management of familial hypercholesterolaemia (FH).
Mr Evagoras Tambouris, Director of Nursing Services at the Cyprus Ministry of Health, extended a warm and gracious welcome to the participants, emphasising the significance of the programme in advancing the diagnosis and treatment of familial hypercholesterolaemia (FH). His heartfelt message highlighted the collaborative efforts and the vital role of advocacy in improving patient outcomes and raising awareness about FH, ensuring that more individuals receive timely and effective care.
Nicola Bedlington, Senior Policy Advisor, delivered an inspiring session on the role of advocacy in healthcare, emphasising the power of patient and citizen voices in shaping policy. This was followed by a heartfelt panel discussion moderated by Cheryl Lichaa, where patient ambassadors shared their personal stories and lived experiences, providing a poignant reminder of the human impact of FH and related conditions.
The morning sessions continued with a detailed presentation by Prof. Urh Grošelj, who provided a comprehensive overview of FH, its genetic basis, and the importance of early detection and treatment. The afternoon featured a strategic session on the European health policy landscape, co-presented by Dr Marius Geanta and Nicola Bedlington, which offered participants an understanding of EU health policy and its implications for FH advocacy.
Prof. Grošelj returned to the stage to discuss the critical role of early screening in preventing cardiovascular disease, followed by a session on the barriers and challenges in screening for genetic lipid disorders, with Magdalena Daccord. The day concluded with an introduction to the Personalised Communication Model (PCM), which is an important focus for the PERFECTO consortium. This was delivered by Dr Marius Geanta, and his associate Bianca Cucos and included an interactive PCM workshop that empowered ambassadors with practical communication skills.
The second day began with an online presentation by Prof. Zanfina Ademi on the cost-effectiveness of paediatric FH screening, providing a compelling economic argument for early detection. This was followed by a dynamic role-playing workshop facilitated by Assoc. Prof. Andrie Panayiotou, Dr Marius Geanta, Nicola Bedlington, and the ever-present assistance of Tomas de Jong, where participants practised their advocacy skills in simulated meetings with policymakers.
Prof. Albert Wiegman delivered an enlightening session on the similarities and differences among familial hyperlipidaemias, offering valuable insights into the genetic causes, symptoms, and treatment options for conditions such as HeFH, HoFH, elevated Lp(a), and FCS. Dr Angelos Kassianos then explored the psychological aspects of living with and advocating for these conditions, highlighting the emotional and behavioural dimensions of patient advocacy.
The event concluded with a session by Yiannoulla Koulla on the realities of advocacy work and her experience, followed by reflections and discussions on the next steps in the advocacy journey. Participants left the event feeling inspired and equipped with the knowledge and tools needed to drive meaningful change in their communities.
The training event was attended by a diverse group of representatives from countries including Australia, Austria, Belgium, Brussels, Cyprus, England, France, Germany, Greece, Ireland, Lebanon, the Netherlands, Poland, Romania, Scotland, Slovenia, Switzerland, the UK, and Ukraine. The collaborative spirit and shared commitment to improving the lives of individuals affected by FH and related genetic lipid disorders were evident throughout the event.
The FH Europe Foundation's first in-person Ambassador Programme training event in Limassol was a significant milestone in the foundation's ongoing efforts to enhance advocacy and support for individuals living with FH. The event's success was a testament to the dedication and expertise of all participants, speakers, and organisers. As the ambassadors return to their respective countries, they carry with them a renewed sense of purpose and a strengthened network of allies in the fight against FH.
On 18 April, we mark European Patients’ Rights Day – an important occasion dedicated to raising awareness of patients’ rights and promoting their protection across Europe. Established by Cittadinanzattiva/Active Citizenship Network in cooperation with various European citizens' organisations, the day is grounded in the European Charter of Patients’ Rights, which sets out 14 fundamental rights that should be recognised and respected in all healthcare systems.
This annual day of action reminds us that every person deserves access to safe, respectful and high-quality healthcare. It encourages all those involved in healthcare – from policymakers and professionals to patient advocates and citizens – to work together to protect and advance these rights.
Each year, the day is marked with public events, conferences and initiatives across Europe, often supported by institutions such as the European Parliament and the European Economic and Social Committee. It serves both as a moment to highlight progress and a platform to drive further improvements in patient care.
At FH Europe Foundation, we strongly support the principles behind European Patients’ Rights Day. Our work – focused on improving awareness, diagnosis and treatment of inherited lipid conditions such as familial hypercholesterolaemia (FH), Homozygous FH (HoFH), elevated Lp(a) and Familial Chylomicronaemia Syndrome (FCS) – is rooted in the belief that all patients deserve timely, accurate and person-centred care.
Outlined in the European Charter of Patients’ Rights, these rights form the backbone of a healthcare system that respects human dignity and promotes equity:
European Patients’ Rights Day is a timely reminder of the essential role that rights-based care plays in creating resilient, patient-focused healthcare systems. At FH Europe Foundation, we remain committed to working with our partners across Europe and beyond, to ensure that the voices of patients – especially those living with inherited lipid conditions – are heard, valued and protected.
By championing these rights together, we can help shape a future where all individuals receive the care, respect and support they deserve.
As part of our contribution to this year’s European Patients’ Rights Day, we are also sharing personal reflections from our community – sharing some of there views on what these rights mean in their daily lives. Alongside each of the 14 rights, you’ll find links to stories, insights and testimonials from individuals living with FH and related conditions, highlighting how these rights play out in practice and where gaps still remain.
These real-life experiences offer valuable context to the Charter and strengthen the call for health systems that truly put people first.
