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Breakthrough Research Into Genetic Heart Conditions Could Save Millions
Madeleine Haase
Thu, July 31, 2025 at 8:31 PM UTC
4 min read
Breakthrough Research Into Genetic Heart Conditions Could Save Millions
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Inherited heart conditions affect about one in 250 people worldwide. Over the years, researchers have made a number of scientific advancements, offering hope for identifying and eventually curing these conditions.
Among the scientific progress is the CureHeart Project, consisting of a team of experts from the U.K., U.S., and Singapore to develop effective genetic therapies for cardiomyopathies, or diseases of the heart muscle that make it harder for the heart to pump blood to the rest of the body.
For this research, scientists sought to use precision genetic techniques, called base and prime editing, in the heart for the first time to design and test the first cure for inherited heart muscle diseases, with the aim of turning off faulty genes (so that they are no longer expressing the harmful mutations). While researchers have yet to reach human trials, the treatment is promising, having already seen success in animal trials.
"For decades, we've hoped that we could cure heart conditions. Most cardiac conditions are not curable right now, but just manageable," Richard Wright, M.D., Cardiologist at Providence Saint John's Health Center in Santa Monica, CA, told Prevention. "At least for this unusual array of disease states where a specific gene is abnormal and we've been able to identify it, there's the possible opportunity, in theory, that we could go right into the cell and fix the fundamental problem in these people and cure them."
All those with inherited heart muscle conditions, also known as genetic cardiomyopathies, have a 50/50 risk of passing faulty genes on to each of their children, according to Mayo Clinic. And, often, several members of the same family develop heart failure, need a heart transplant, or die at a young age.
About half of the genes that we have are turned on to make proteins in the heart, and there are thousands of mistakes in the genetic code that lead to the heart being too weak or heart muscle being too thick, which can lead to a myriad of health issues. These mutations are one of the more common causes of heart failure, explained Dr. Wright. "If this treatment were successful, you could rather quickly reprogram the genes to make normal, instead of abnormal, proteins within the heart, leading to the heart reversing its dysfunction and going back to normal."
If you inherit a "bad" gene, it doesn't necessarily mean you'll end up with the disease. Some people carry these mutations, or "bad genes," their whole lives and never manifest any disease. However, in some specific cases, we know for certain that a disease will eventually manifest itself later in life—in which case, we may want to prevent it from ever happening. It's possible that this cure could be distributed to those with cardiomyopathies at any time in their lives, before or after the condition presents itself.
So how do you go into a cell and correct the genetic code without potentially causing more harm? Scientists used to use viruses to carry information into the cell, which obviously has its potential side effects, but now they have the ability to do it directly and cut out the carrier entirely, which may prove to be much safer, according to Dr. Wright.
What other research is in progress for cardiomyopathy?There have been many advancements in healthcare research over the past few years, directly related to the goal of curing cardiomyopathies. Some of these include:
Findings published in the journal Nature Cardiovascular Research in July 2025 revealed progress in detecting hypertrophic cardiomyopathy (HCM) by harnessing the power of deep learning models and raw electrocardiographic (ECG) voltage data.
Findings published in Nature Reviews Cardiology in June 2025 revealed advances in therapeutic approaches in cardiomyopathy, including developments in pharmacological agents and gene-targeted therapies, potentially offering the ability to modify and prevent disease.
In September 2024, research published in Nature Medicine showed how artificial intelligence-guided screening using a digital stethoscope improved the diagnosis of pregnancy-related cardiomyopathy in pregnant and postpartum women.
All of the ground-breaking research occurring could mean a cure for not only heart conditions but many other genetic diseases, too. "Genetic blood disorders, such as sickle cell anemia, or brain disorders such as Huntington's or chorea—these are diseases where we've known what the problem is but we just haven't had the tools to correct the problem," Dr. Wright said.
—This story was originally published in 2022.
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The Cholesterol Strategy For Genetic Heart Disease - Rolling Out
When heart disease runs in your family, your cholesterol goals shift significantly. This genetic connection transforms you from an average-risk individual to someone requiring more vigilant monitoring and stricter targets. Understanding these modified goals could literally save your life.
Family history of heart disease—particularly when it occurs at younger ages—serves as one of the strongest predictors of your own cardiovascular risk. This hereditary component works through multiple pathways, including genetic tendencies toward higher cholesterol levels, enhanced cholesterol sensitivity, inflammation patterns, and blood vessel structure variations.
The impact of family history proves so significant that major medical organizations classify it as a key factor in determining appropriate cholesterol targets. When heart disease has affected your parents, siblings, or grandparents, especially before age 55 for males or 65 for females, your personal cholesterol management requires a more aggressive approach.
Understanding your specific cholesterol targets with this genetic background empowers you to take appropriate action. Rather than assuming standard recommendations apply to your situation, recognizing the need for more stringent goals allows for properly calibrated lifestyle changes and medical interventions.
Decoding your cholesterol numbersCholesterol test results contain several measurements that collectively create your lipid profile. Each component provides different information about your cardiovascular health and risk factors:
Total cholesterol represents the sum of all cholesterol in your bloodstream. While this number offers a general overview, it proves less useful than the specific components that comprise it.
LDL cholesterol, often called "bad cholesterol," constitutes the primary driving force behind arterial plaque buildup. These particles transport cholesterol to body tissues, but when present in excess, they deposit their contents into arterial walls, forming the foundation of atherosclerotic plaques. This measurement deserves particular attention for those with family history.
HDL cholesterol, known as "good cholesterol," helps remove excess cholesterol from the bloodstream and transport it to the liver for elimination. Higher HDL levels generally indicate better protection against heart disease, though exceptions exist.
Triglycerides, while technically not cholesterol, appear in standard lipid panels as another type of blood fat associated with cardiovascular risk. Elevated triglycerides often indicate metabolic issues that affect heart health.
Non-HDL cholesterol, calculated by subtracting HDL from total cholesterol, measures all potentially harmful cholesterol-containing particles. This calculation has gained importance as it captures additional risk factors beyond LDL alone.
Additional advanced testing may provide valuable insights for those with family history. These might include LDL particle number, apolipoprotein B levels, lipoprotein(a), and inflammatory markers, which help characterize risk more precisely for inherited cardiovascular conditions.
Standard versus family-history cholesterol targetsFor the general population without additional risk factors, standard cholesterol goals typically include:
Total cholesterol below 200 mg/dL
LDL cholesterol below 100 mg/dL
HDL cholesterol above 40 mg/dL for men or 50 mg/dL for women
Triglycerides below 150 mg/dL
Non-HDL cholesterol below 130 mg/dL
However, when family history enters the equation, these targets shift significantly toward more aggressive goals. The degree of adjustment depends on the strength of your family history, your personal risk factors, and your current cardiovascular health status.
For those with family history of premature heart disease (before age 55 in male relatives or 65 in female relatives), cholesterol targets typically align with those for people who already have established heart disease or diabetes:
LDL cholesterol below 70 mg/dL, with some guidelines suggesting even lower targets of under 55 mg/dL for those with very strong family history
Non-HDL cholesterol below 100 mg/dL
HDL cholesterol ideally above 60 mg/dL (this target increases rather than decreases)
Triglycerides below 100 mg/dL
These more stringent goals reflect the understanding that family history constitutes a non-modifiable risk factor that amplifies the impact of other cardiovascular risk factors like cholesterol levels.
Some specific inherited conditions require even more aggressive management. Familial hypercholesterolemia, a genetic disorder causing extremely high LDL levels from birth, typically requires LDL goals below 50 mg/dL and often demands medication beginning in childhood or early adulthood.
Beyond just numbersWhile specific cholesterol values provide important targets, modern cardiovascular risk assessment takes a more comprehensive approach than focusing solely on isolated numbers. Several additional factors influence how aggressively cholesterol should be managed when family history exists:
Age of onset in affected family members carries significant weight. The younger your relatives were when developing heart disease, the more aggressive your cholesterol management should be. Early onset (before age 50) suggests stronger genetic components requiring more intensive intervention.
The number of affected family members matters substantially. Having multiple relatives with heart disease indicates a stronger genetic predisposition than having just one affected relative, potentially warranting more stringent targets.
Your personal risk factor profile acts as a multiplier. Family history combined with other risk factors—like smoking, hypertension, diabetes, or obesity—creates compounding effects that necessitate even stricter cholesterol management.
Gender patterns within family history provide additional context. Some genetic cardiovascular risks follow sex-linked patterns, affecting males and females differently across generations. Understanding these patterns helps tailor appropriate goals.
Specific manifestations of heart disease in your family provide important clues. Different types of heart problems—from heart attacks to arrhythmias to heart failure—may involve different genetic pathways and risk factors requiring varied approaches to prevention.
Ethnicity influences how family history affects cardiac risk. Certain ethnic groups show stronger genetic components for heart disease and may benefit from more aggressive cholesterol management when family history exists.
The role of advanced testingStandard lipid panels may not capture the full picture for those with family history of heart disease. Several advanced tests provide valuable additional information for more precisely calibrating cholesterol goals:
Lipoprotein(a), or Lp(a), represents a specialized form of LDL particle with additional proteins attached. High levels, determined primarily by genetics, significantly increase heart disease risk independent of LDL cholesterol. Testing for Lp(a) is particularly important when family history exists, as elevated levels may warrant more aggressive LDL targets and potentially specific treatments.
LDL particle number and size analysis examines the quantity and characteristics of LDL particles rather than just their cholesterol content. Some families carry genetic tendencies toward numerous small, dense LDL particles, which prove more dangerous than fewer, larger particles—even with identical LDL cholesterol levels.
Apolipoprotein B (apoB) provides a count of all potentially atherogenic particles in the bloodstream. This measurement helps identify residual risk that might be missed in standard lipid panels, particularly for those with family history combined with metabolic syndrome or diabetes.
Inflammatory markers like high-sensitivity C-reactive protein (hs-CRP) help assess the inflammatory component of cardiovascular risk. Some families have genetic tendencies toward greater vascular inflammation, making these measurements particularly relevant for setting appropriate treatment intensity.
Coronary calcium scoring uses CT scanning to detect early calcified plaque in coronary arteries. For those with family history, this test can help determine whether inherited risk has already manifested as arterial disease, potentially warranting more aggressive cholesterol goals even when standard lipid values appear borderline.
These advanced assessments help personalize cholesterol goals beyond generic family history adjustments, ensuring that treatment intensity matches the actual physiological risk rather than relying solely on standard algorithms.
Lifestyle approaches for genetic riskWhile family history cannot be changed, its impact on cardiovascular risk can be substantially modified through targeted lifestyle interventions. These approaches take on heightened importance when genetic risk exists:
Dietary patterns proven to lower cholesterol deserve particular attention. The Mediterranean diet and plant-based eating patterns show particular benefits for those with genetic cardiac risk. These approaches emphasize:
Abundant fruits, vegetables, and whole grains providing soluble fiber that helps lower cholesterol
Healthy fats from olive oil, nuts, seeds, and avocados that improve cholesterol ratios
Limited saturated fats from animal products and tropical oils
Minimal trans fats and processed foods
Moderate consumption of fatty fish rich in omega-3 fatty acids
Regular physical activity provides powerful cholesterol-modifying effects. For those with family history, aim for at least 150 minutes weekly of moderate aerobic activity plus resistance training twice weekly. Exercise creates benefits beyond just cholesterol improvement, including enhanced vascular function, better weight management, and reduced inflammation.
Weight management takes on critical importance with genetic cardiac risk. Even modest weight loss of 5-10% in those carrying excess weight can significantly improve cholesterol profiles and reduce the genetic risk amplification that occurs with obesity.
Stress management helps mitigate the impact of stress hormones on cholesterol levels and vascular health. Chronic stress can worsen lipid profiles and accelerate atherosclerosis, particularly in those with genetic predispositions. Regular stress-reduction practices like meditation, yoga, or other mindfulness approaches help offset this risk.
Smoking cessation becomes even more crucial with family history. Smoking acts synergistically with genetic risk factors to dramatically increase heart disease likelihood. Prioritizing smoking cessation represents one of the most powerful interventions for those with family history.
Alcohol moderation helps optimize cholesterol profiles. While moderate alcohol consumption shows some benefits for heart health in the general population, those with specific genetic variations may respond differently. Limiting intake to no more than one drink daily for women or two for men (or less) provides the safest approach.
Sleep optimization supports healthy cholesterol metabolism. Chronic sleep deprivation negatively impacts lipid profiles and metabolic health, potentially amplifying genetic risk. Aiming for 7-9 hours of quality sleep nightly helps maintain optimal cholesterol processing.
Medication considerations with family backgroundFor many individuals with strong family history of heart disease, lifestyle modifications alone may prove insufficient to reach optimal cholesterol targets. Several medication approaches demonstrate particular benefit for those with genetic risk:
Statins remain the cornerstone of cholesterol management when family history exists. These medications block an enzyme involved in cholesterol production while enhancing LDL receptor activity, effectively lowering LDL levels by 30-60% depending on the specific statin and dosage. For those with family history, moderate to high-intensity statins typically provide appropriate risk reduction.
Ezetimibe works differently from statins by blocking cholesterol absorption in the intestine. This medication provides additional 15-20% LDL lowering when added to statin therapy. For those with family history struggling to reach LDL goals with statins alone, adding ezetimibe often helps achieve target levels.
PCSK9 inhibitors represent a newer medication class that dramatically lowers LDL levels by increasing the liver's ability to remove cholesterol from circulation. These injectable medications can reduce LDL by 50-70% beyond statin effects. For those with severe family histories or familial hypercholesterolemia, PCSK9 inhibitors often prove necessary to achieve very low LDL targets.
Bempedoic acid offers another option that works similar to statins but with a different mechanism and side effect profile. This newer medication provides additional options for those unable to tolerate statins or needing additional LDL lowering.
Icosapent ethyl, a highly purified omega-3 fatty acid, shows particular benefit for reducing cardiovascular events in those with elevated triglycerides despite statin therapy. This medication may prove especially helpful for family history involving metabolic syndrome patterns or early heart attacks.
Medication timing and longevity require special consideration with family history. Those with strong genetic predispositions typically benefit from earlier medication initiation and longer duration of therapy compared to those with similar cholesterol levels but no family history.
Special considerations for different types of family historyThe specific pattern of heart disease in your family provides important clues for tailoring your cholesterol goals and management approach:
Early heart attacks in male relatives suggest particular attention to traditional risk factors including LDL cholesterol. For those with fathers or brothers experiencing heart attacks before age 55, LDL targets below 70 mg/dL often prove appropriate even in the absence of other risk factors.
Stroke history in relatives may warrant greater attention to blood pressure management alongside cholesterol control. When family history includes strokes, maintaining optimal blood pressure becomes equally important as reaching stringent LDL goals.
Familial hypercholesterolemia requires specialized management with extremely aggressive LDL targets, typically below 50 mg/dL. This inherited condition causes severely elevated cholesterol from birth and dramatically increases early heart attack risk. Genetic testing helps confirm this diagnosis when cholesterol levels are extremely high or family history shows heart attacks in multiple relatives before age 50.
Metabolic syndrome patterns in families suggest focus on triglycerides and HDL in addition to LDL. When family history includes diabetes, obesity, and early heart disease, addressing all lipid fractions becomes crucial, with particular attention to lowering triglycerides below 100 mg/dL and raising HDL above 60 mg/dL when possible.
Peripheral arterial disease in relatives indicates particularly aggressive LDL management. Family history of leg artery disease, carotid disease, or aortic aneurysms suggests benefits from very low LDL targets, typically below 55 mg/dL.
Heart failure patterns in families require broader cardiovascular risk management beyond just cholesterol. While controlling lipids remains important, additional factors like blood pressure control, avoiding cardiotoxic substances, and early screening for structural heart abnormalities may take precedence.
Sudden cardiac death in relatives necessitates comprehensive cardiac evaluation alongside cholesterol management. While maintaining optimal lipids reduces long-term plaque buildup, additional testing for inherited arrhythmia conditions often proves crucial when family history includes sudden death.
Creating your personal monitoring planWith family history of heart disease, regular monitoring takes on heightened importance. A structured approach ensures you're making appropriate progress toward your more stringent cholesterol goals:
Baseline comprehensive assessment provides the foundation for personalized targets. Beyond standard lipid panels, consider advanced testing based on your specific family pattern as discussed earlier.
Monitoring frequency typically increases with family history. While general guidelines suggest lipid testing every 4-6 years for average-risk adults, those with family history benefit from annual testing at minimum, with more frequent monitoring when making treatment adjustments or when values remain far from target.
Tracking additional metrics beyond cholesterol provides important context. Regular monitoring of blood pressure, blood glucose, weight, waist circumference, and exercise capacity helps create a comprehensive picture of your cardiovascular health.
Cardiovascular imaging may prove valuable for monitoring actual disease progression rather than just risk factors. Coronary calcium scoring every 5-10 years beginning in your 40s (or earlier with very strong family history) helps assess whether your current management approach adequately addresses your inherited risk.
Adjustment thresholds should be lower with family history. Rather than waiting for significant cholesterol elevation before intensifying treatment, consider any movement away from optimal targets as a trigger for reassessing your approach.
Celebrating progress provides important psychological reinforcement. Acknowledge improvements in your lipid profile, even when not yet reaching ultimate targets, as evidence that you're successfully counteracting your genetic predisposition.
The empowering truth about genetic riskWhile family history of heart disease necessitates more stringent cholesterol goals, this knowledge brings empowerment rather than discouragement. Understanding your genetic predisposition allows for proactive steps that can dramatically reduce your actual risk of experiencing the heart problems that affected your relatives.
Research consistently shows that genetic risk is not destiny. Even those with the strongest genetic predispositions can significantly reduce their heart attack and stroke risk through appropriate cholesterol management, often delaying cardiac events by decades or preventing them entirely.
The key lies in translating awareness into action—recognizing that your family history necessitates more aggressive targets, implementing the lifestyle approaches known to counteract genetic risk, considering appropriate medications earlier than might be recommended for the general population, and maintaining consistent monitoring to ensure your efforts produce the desired results.
With this comprehensive approach, family history transforms from a concerning shadow over your health future into valuable information that motivates precision-targeted prevention. By reaching and maintaining the cholesterol goals appropriate for your specific genetic background, you write a new health story that may look very different from previous generations in your family.
New Blood Test Screens For Thousands Of Rare Inherited Diseases ... - UPI
ST. PAUL, Minn., May 25 (UPI) -- A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at once, greatly improving on current inefficient detection methods, according to a study to be presented Monday.
The new test developed by Australian scientists has proven highly accurate in identifying gene mutations associated with many rare, inherited diseases, all from just a minimally invasive blood sample taken from infants and children, the authors say.
The study, being unveiled at the European Human Genetics Conference in Milan, Italy, demonstrated that a single, untargeted test capable of analyzing 8,000 human proteins at once was able to correctly identify 83% of people with confirmed rare, inherited diseases.
The "proteomics" test was also able to differentiate between parental carriers of the mutations, who only have one copy of the defective gene, and the affected child, who carries two copies.
Those encouraging results are raising hopes for a new era in which screening infants and children for suspected inherited rare diseases can be accomplished quickly and efficiently for the first time, and that testing can be extended to many more of the estimated 300 million people worldwide affected by these genetic mutations.
Testing for suspected inherited diseases has traditionally been a time-consuming, costly and sometimes painful process that required different procedures for different suspected mutations. But that paradigm could be about to change, the study's lead author says.
Daniella Hock, a senior postdoctoral researcher at the University of Melbourne, told UPI that if the test is implemented in clinical labs, "it can potentially replace multiple functional tests. This can potentially reduce the diagnostic time for patients and families and healthcare costs.
"The test only requires only 1 milliliter of blood from infants, and results can be achieved in less than three days for urgent cases," she said.
One area in which the new proteomics test could have immediate benefits is in the battle against mitochondrial diseases, which are defined by the Cleveland Clinic as a group of genetic conditions that affect how mitochondria in human cells produce energy. Mitochondrial diseases render cells unable to produce enough energy, which can lead to life-threatening complications.
About 1 in 5,000 people worldwide have a mitochondrial disorder. Examples of such illnesses are Leigh's syndrome, which primarily affects the nervous system; Kearns-Sayre syndrome, which primarily affects the eyes and heart; and Leber hereditary optic neuropathy, which can cause a sufferer to quickly and unexpectedly lose their vision.
Hock said the current "gold standard" for screening for these rare maladies starts with genetic testing -- either whole exome or whole genome sequencing -- that currently provides a diagnosis to about half of patients.
"The remaining half often endure years of functional testing trying to identify which genetic change, that is, genetic variant, is causing the disease," she said, adding that more than 7,000 types of disease caused by mutations exist in more than 5,000 known genes.
Some of these current tests are invasive, requiring skeletal muscle or liver biopsies, and are often targeted to a single disease or a few diseases.
"If we take the example of mitochondrial disease, which is a type of rare disease that can be caused by over 350 different genes, the current clinical test to confirm mitochondrial disease is called respiratory chain enzymology," she said. "This enzyme test typically requires a skeletal muscle or skin biopsy and has a turnaround time of a few weeks."
The new proteomic test, which sequences proteins rather than genes, can reduce invasiveness and time to a diagnosis compared to other kinds of current clinical functional tests, its developers say.
"For about half of the individuals where DNA sequencing results are inconclusive, typically due to the identification of variants of uncertain significance, this single test can potentially be used to provide functional evidence to these genetic variants," Hock said.
Study co-author David Thorburn, one of Australia's foremost experts on genetics and co-group leader for brain and mitochondrial research at Murdoch Children's Research Institute in Melbourne, said the current process for determining if a child has one of the many possible genetic variances is a daunting one.
While there are many hundreds of different functional tests tailored to specific genes, "relatively few of these are available in clinical labs, so it is often a matter of contacting researchers who work on that gene, of which there may only be one or a handful internationally to see if they can assist," he told UPI in emailed comments.
"That often requires paperwork like material transfer agreements to be put in place, shipping costs of hundreds or even thousands of dollars if dry ice shipment is needed and frequently a timeframe of months to multiple years depending on whether they have a student or staff to do testing in a research context, where the rigor of the test may be variable," he added.
Thorburn said the new proteomics test, however, "provides a single pipeline that can potentially provide that evidence for about half the known rare disease genes and we are working hard to move it into a clinical test in Melbourne at our Victorian Clinical Genetics Services and working with expert clinical labs in the U.K., U.S.A. And elsewhere to support them doing that."
Having the test available clinically "could allow hundreds of families each year in Australia alone to get confirmed genetic diagnoses, so potentially thousands per year in the U.S.," he said. "For urgent cases, [for example], kids in ICU this can be done in as few as three days from sample receipt."
For those many thousands of patients, the new test could mean their "diagnostic odyssey is ended, unnecessary investigations are no longer needed, targeted therapies may be available, patients may qualify for a clinical trial and parents can be offered reproductive options," he said.
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