Genetics

Genetics is the study of genes and heredity. Heredity is the passing of genetic information and traits (such as eye color and an increased chance of getting a certain disease) from parents to offspring.

How Do Genetic Mutations Cause Disease?

Mutations in genes can lead to genetic disorders, impacting health. Understand the types, causes, and implications of genetic mutations and disease.

Genetics and Gene Expression

Genetics Research and Technology

Genetic Regulation of Fingers and Toes Development

START and STOP Codons

Applications of the Expanded Genetic Code

What is the Expanded Genetic Code?

The Role of Alternative Splicing in Disease

Genetics of Inflammatory Bowel Disease (IBD)

Genetic Change

Genetic Risk Associated with Social Anxiety

The Importance of Genetic Counseling In Healthcare And Medicine

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Von Recklinghausen Disease Expressivity

What is Cytogenetics?

Genetic Inheritance

History of Genetics

Genotype Versus Phenotype

What is Genetic Anticipation?

Latest Genetics News and Research

NIH awards five year grant for cardiovascular epidemiology training

Boston University Chobanian & Avedisian School of Medicine researchers Vanessa Xanthakis, PhD, FAHA, associate professor of medicine and director of research training, and Mathew Nayor, MD, MPH, associate professor of medicine, have been awarded a five-year, T32 grant from the National Institutes of Health's National Heart, Lung and Blood Institute

27 Apr 2026

Scientists seek to reverse neurodegeneration by eliminating harmful RNA pollution

Researchers at University of California San Diego School of Medicine, the Salk Institute and Sanford Burnham Prebys have received a four-year, $13 million award from the California Institute for Regenerative Medicine (CIRM) to investigate how to reverse age-related neurodegeneration by eliminating what the researchers call "RNA pollution" in aging neurons.

27 Apr 2026

Newer mail-in stool tests increase colorectal cancer screening completion rates

Colorectal cancer (CRC) is the second most common cause of cancer death in the United States and disproportionally impacts people who receive care in under-resourced settings.

27 Apr 2026

Engineered cells boost production of gene editing delivery vehicles

Gene editing has emerged as a powerful approach for targeting the genetic causes of disease, but getting the editing machinery into the right cells efficiently, safely, and at the scale needed for therapies remains one of the biggest set of challenges in the field.

25 Apr 2026

Intercellular heme transfer pathway sustains red blood cell production under stress

Scientists have long been puzzled by how maturing red blood cells manage to produce all the hemoglobin they need to carry oxygen to tissues, even after shedding the vital structures they need to produce it.

25 Apr 2026

Trends reveal growing burden of deaths from non-ischemic cardiogenic shock

New data from the CDC WONDER database finds deaths from heart attack-related cardiogenic shock (CS) decreased between 1999 and 2020, but deaths linked to heart failure (HF) and abnormal heart rhythms have risen sharply since 2010, particularly among men.

24 Apr 2026

New model improves detection of Li-Fraumeni Syndrome risk

In a prospective validation study, researchers at The University of Texas MD Anderson Cancer Center demonstrated that a new mathematical model, called LFSPRO, was effective in supporting genetic counselor decision-making and more accurately predicted individuals at higher risk of Li-Fraumeni Syndrome (LFS), a hereditary condition that carries a higher risk of developing multiple cancers.

23 Apr 2026

Study identifies new genetic pathways driving cardiometabolic disease risk

A study published today in PLOS Medicine has identified two new genetic pathways that contribute to cardiometabolic disease, which includes heart disease, obesity and diabetes.

23 Apr 2026

Study reveals genetic factors influencing SYNGAP1 encephalopathy disease severity

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism.

22 Apr 2026

Breast milk sugars promote beneficial bacterial balance in infant guts

Sugars contained exclusively in breast milk are helping to feed an important balance of bacteria in babies' developing gut microbiomes, a new study has found.

22 Apr 2026

McMaster researchers identify new DNA region linked to frailty

Researchers at McMaster University have identified, for the first time, a novel region of DNA and two associated genes connected to frailty, offering neurological and immune-related insights that might help explain why some older adults are more likely to be frail than others.

22 Apr 2026

Tumor immune cell patterns predict melanoma immunotherapy response

A new UCLA Health Jonsson Comprehensive Cancer Center study suggests that the way immune cells are organized inside melanoma tumors may help researchers better understand which patients will benefit from combination immunotherapy after standard anti-PD-1 treatment stops working - and which may not.

22 Apr 2026

Calcium signals in microglia drive anxiety and compulsive behaviors

Researchers had previously discovered a population of immune cells within the brain that can act as accelerators and brakes for anxiety in mice. N

21 Apr 2026

Cancer-linked mutations in the brain cells may drive Alzheimer’s disease

As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's Hospital, published in Cell, finds that the brain's resident immune cells, microglia, amass mutations in specific cancer-driving genes yet they don't manifest as cancer.

21 Apr 2026

Early genomic testing prevents years of inconclusive visits for pediatric patients

For many families, eight years of uncertainty meant repeated specialist visits, inconclusive genetic tests and the growing fear that a clear answer might never come. For nearly half of the children enrolled in the Telethon Undiagnosed Disease Program (TUDP), that wait is now over.

21 Apr 2026

APC-deficient cancer cells rely on single enzyme for survival

A newly published study reports that APC-deficient cancer cells may depend on a single metabolic enzyme for survival, revealing a potential strategy for selectively targeting tumours associated with one of the most common mutations in colorectal cancer.

20 Apr 2026

Proteomics and AI bring earlier risk prediction into sharper focus

This review examines how high-throughput proteomics is expanding precision medicine by improving biomarker discovery, disease prediction, and drug development. It also shows how AI is helping researchers interpret complex proteomic data while highlighting major barriers such as standardization, validation, and clinical translation.

19 Apr 2026

Key gene variants tied to developmental dysplasia of the hip and osteoarthritis

Developmental dysplasia of the hip (DDH) is a polygenetic disorder that increases the risk of hip osteoarthritis.

17 Apr 2026

Study explains the link between NDMA-contaminated water and childhood cancer

A new study from MIT suggests that a carcinogen that has been found in medications and in drinking water contaminated by chemical plants may have a much more severe impact on children than adults.

17 Apr 2026

Researchers discover a molecular signature to flag dysfunctional aging cells

UCLA researchers have identified a rogue population of immune cells that quietly accumulates in aging tissues and in the livers of people with fatty liver disease. Clearing these cells, they found, dramatically reduced inflammation and reversed liver damage in mice - even while the animals remained on an unhealthy diet.

16 Apr 2026