Unlocking the Power of Genes: Why It Matters for Those Living with Inherited Lipid Conditions

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. 

Links with FCS, HoFH, elevated Lp(a), and HeFH

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. 

Familial Chylomicronaemia Syndrome (FCS):  

• Identifying: Genetic testing can identify mutations in genes responsible for triglyceride metabolism, such as the LPL gene. These mutations prevent the proper breakdown of triglycerides, leading to high levels in the blood. 

• Management: This often involves strict dietary management and now some emerging therapies targeting specific genetic mutations. 

• Preventing: Early genetic screening can help identify carriers and prevent severe complications through lifestyle adjustments and targeted therapies. 

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. 

Homozygous Familial Hypercholesterolaemia (HoFH): 

• Identifying: Genetic testing can confirm mutations in genes like LDLR, APOB, and PCSK9, which are crucial for diagnosing HoFH. 

• Managment: At present there are more therapies available and these can be less or more affective depending on the variant of the individual. There are also more advanced treatments,i ncluding gene therapy, gene editing, and RNA-targeted therapies, being developed to address the severe lipid abnormalities in HoFH patients. 

• Preventing: Early diagnosis through genetic screening allows for timely intervention, reducing the risk of cardiovascular events from a young age. 

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:

Elevated Lipoprotein(a) [Lp(a)]: 

• Identifying: Early testing can determine elevated Lp(a) levels, which are largely influenced by genetic factors. 

• Management: New therapies targeting the LPA gene are in development to lower Lp(a) levels and reduce cardiovascular risk. 

• Preventing: Knowing one's genetic predisposition to high Lp(a) can lead to proactive management of cardiovascular health through lifestyle changes, managing other risk factors as well as medical interventions where required. 

 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:

Heterozygous Familial Hypercholesterolaemia (HeFH): 

• Identifying: Genetic testing can identify mutations in the LDLR, APOB, and PCSK9 genes, which are responsible for HeFH. 

• Management: Therapies include statins, PCSK9 inhibitors, and other lipid-lowering therapies tailored to the genetic profile of the patient. 

• Preventing: Early genetic screening and family cascade testing can help find those at risk and therefore prevent cardiovascular events by initiating treatment early. 

 Understanding the difference that a genetic variant can make:

Unlocking the Power of Genes: Linking DNA Day with HoFH Awareness Day 

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.