Chromosome News and Research

Latest Chromosome News and Research

Genetic background shapes outcomes in chromosome 16 deletion disorders

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay, while others may only exhibit milder psychiatric features like depression or anxiety.

5 May 2026

AI model reads genetic code to trace evolutionary history

Researchers at the University of Oregon have developed an artificial intelligence tool that can read genetic code the way large language models like ChatGPT read text. Scanning the genome for biological mutation patterns, the computer model traces pairs of genes back in time to their last common ancestor.

4 May 2026

Early chemical exposure linked to sperm abnormalities in men

An estimated 7% of all men are affected by infertility. Multiple animal studies indicated that exposure to persistent environmental chemicals in early life can negatively impact male reproductive health, and now a human study suggests the same.

4 May 2026

Cell division failure pathway determines fate after genome duplication

A new study shows that how a cell fails to divide after copying its DNA can determine its fate.

30 Apr 2026

T1GRS model enhances prediction of genetic risk for Type 1 diabetes

In people with Type 1 diabetes (T1D), the immune system shuts down the body's ability to make the hormone insulin, responsible for regulating blood sugar and providing cells with glucose to produce energy.

30 Apr 2026

Study maps the evolution of myeloid leukemia in children with Down syndrome

It may be possible to identify which pre-cancerous cells will develop into a rare type of blood cancer, due to new research showing that a single genetic change drives myeloid leukemia in children with Down syndrome.

23 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

Obesity health risks differ significantly between men and women

New research being presented at this year's European Congress on Obesity (ECO) in Istanbul, Turkey (12-15 May), reveals distinct patterns of heart, metabolic, and inflammatory health risks between men and women living with obesity, providing an insight into how clinicians may be able to tailor management approaches.

13 Apr 2026

Mutations in RNU2-2 gene linked to neurodevelopmental disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

11 Apr 2026

Genetic variants may help explain who loses more weight and who gets side effects on GLP-1 drugs

A large 23andMe-based GWAS found that common variants in GLP1R and GIPR help explain why some people lose more weight or experience more nausea and vomiting on GLP-1 drugs. The findings suggest genetics may eventually help predict who responds best to semaglutide or tirzepatide and who is more likely to develop side effects.

9 Apr 2026

Study reveals how hyperdiploidy creates rare pre-leukemic clones in children

B-cell acute lymphoblastic leukemia is the most common form of childhood cancer. In this type of cancer, which affects blood cells, one of the most common abnormalities is the presence of cells with an excess of chromosomes (hyperdiploidy), a condition that leads to chromosomal instability.

8 Apr 2026

Study identifies a common hidden genetic cause of neurodevelopmental disorder in children

Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by intellectual disability, global developmental delay, and frequent seizures. The study suggests this condition may be the most prevalent known recessive neurodevelopmental disorder currently diagnosable by sequencing, with RNA data pointing to a loss-of-expression mechanism.

2 Apr 2026

Excessive RNA editing enzyme alters brain circuit formation in Down syndrome

A collaborative research study co-led by scientists at the Icahn School of Medicine at Mount Sinai and the Liber Institute for Brain Development has for the first time identified a biological process that may help explain how the brain develops differently in people with Down syndrome.

31 Mar 2026

Study proposes genetic basis for autism’s strong sex bias

Autism has a significant and enduring sex bias, with roughly four boys diagnosed for every girl. For many years, experts have believed this disparity arises primarily from diagnostic inequities because much of autism research - and the screening tools that grew out of it - has historically focused on boys, effectively setting a male standard for what autism "looks like."

30 Mar 2026

Microtubules unveiled as active enzyme regulators

Microtubules, the dynamic filaments that form the cell's internal scaffolding, have long been viewed as mere passive structural supports. But a new study reveals they play a far more active signaling role. The findings, published in Science Advances, demonstrate that microtubules are in fact regulators of enzymatic reactions through reshaping the geometry of the enzyme's substrate proteins attached to them and controlling when key events occur to conduct cell division.

26 Mar 2026

Study reveals genetic impact of Agent Orange on bone marrow cancers

More than 50 years after Agent Orange was used in Vietnam, a new national study published online ahead of print in Blood Advances highlights the genetic changes that link exposure to Agent Orange to myelodysplastic syndromes (MDS), a group of bone marrow cancers that can progress to acute leukemia.

23 Mar 2026

Selfish chromosomes hijack Overdrive gene to eliminate rival sperm

A new University of Utah-led study has discovered the mechanism behind a decades-old evolutionary mystery-how "selfish chromosomes" cheat the rules of genetic inheritance.

13 Mar 2026

NUS uncovers NuSAP’s role in centriole stability

Biologists at the National University of Singapore (NUS) have uncovered how the protein NuSAP safeguards tiny structures inside cells called centrioles, revealing a mechanism linked to developmental disorders such as microcephaly and mosaic variegated aneuploidy (MVA) syndrome.

12 Mar 2026

Transposable elements cause majority of lethal mutations in fruit flies

Most lethal mutations in wild fruit flies are driven by newly transferred jumping genes, not small DNA errors, according to a new study from Duke University.

10 Mar 2026

Scientists simulate complete life cycle of a minimal bacterial cell

By simulating the life cycle of a minimal bacterial cell - from DNA replication to protein translation to metabolism and cell division - scientists have opened a new frontier of computer vision into the essential processes of life.

9 Mar 2026