The blueprint of who we are begins with the genes passed down from our parents. While these inherited traits give us our eye color and height, they can also contain instructions that increase our risk ...

Jaime Murillo, MD, explores genetic inheritance patterns of Lp(a) from childhood to adulthood, highlighting stability, factors affecting measurement, and awareness challenges among those in the health ...

How much of our lifespan is written in our genes, and how much is sitting on our plates? A new analysis suggests that while ...

The same pathogen can often elicit very different responses from different people. Scientists sought to understand more about ...

Although schwannomatosis is a genetic condition, the inheritance patterns for this disorder are complex and much less clear than for both NF1 and NF2. Some cases of schwannomatosis are familial, with ...

Most cases of Moebius syndrome are spontaneous, with no family history and no known genetic cause. In certain rare cases, the disorder has been associated with defects in chromosomes 3, 10, and 13.

Study results regarding the clinical spectrum and inheritance pattern of GDF2 pathogenic variants suggest incomplete penetrance and/or variability of expressivity with a semi-dominant pattern of ...

Forty years ago, a postdoctoral researcher named James McGrath who would go on to spend more than three decades as a clinical geneticist and research scientist at Yale, made a discovery that advanced ...

Alport syndrome is a condition that develops due to mutations in three different genes – COL4A3, COL4A4 and COL4A5. The reason that the syndrome has a significant impact on the kidneys is because all ...

Duchenne muscular dystrophy (DMD) is a rare, incurable condition that typically begins in early childhood and is marked by worsening muscle weakness. The disease results from changes in a gene ...