DNA

Newly Discovered Mutation Causes Eye Disease

abnormal retina of a patient with retinitis pigmentosa

The Human Genome Project gave scientists an incredible roadmap of the thousands of genes used to construct the human body. However, many individuals harbor DNA that differs markedly from the standard reference sequence produced by that initiative, and these variations can have profound implications for a person’s health. A recent study led by IRP scientists has uncovered yet another of these genetic variants, a rare mutation that causes the eye disease retinitis pigmentosa.

Urban Upbringing Flips Genes’ Effects on Brain Activity

taxi cabs in a city street

It might seem easy to blame your parents for the way you turned out; after all, they raised you and gave you all of your DNA. But, before throwing blame around, consider saving some for the place where you grew up. According to new IRP research, being raised in an urban environment can dramatically alter how your genes influence your brain.1

Labradors, Terriers, and Boxers — Oh My! IRP Researchers Delve Into Doggy DNA

two breeds of dog that have massively differing physical traits

For over a decade, my family shared our home with a short, fat beagle named Kayla Sue. She had big floppy ears, a tail as straight as an exclamation point, and a coat of fur that was a patchwork of white, brown, and black splotches. Her love of chasing small animals was matched only by her enthusiasm for eating, napping, and belly rubs. One of my best friends growing up, on the other hand, had a mean-spirited Dachshund named Rocky who would not let anyone outside his family touch his long, brown, sausage-shaped body. Meanwhile, one of my brother’s close childhood friends had two humongous, overly-friendly, black-and-brown German shepherds that would immediately bowl you over when you walked through the front door.

It doesn’t take a particularly sharp observer to notice that, despite being the same species, the more than 300 breeds of dog have remarkably different physical and behavioral traits. But what remains less clear even today are the specific biological roots that produce these widely varying attributes. And, perhaps more importantly, scientists seek to understand how learning about that immense diversity might help us improve the health of our canine companions – and ourselves.

Muscle Enzyme Explains Weight Gain in Middle Age

Reblogged from The NIH Director’s Blog.

using a weight scale

The struggle to maintain a healthy weight is a lifelong challenge for many of us. In fact, the average American packs on an extra 30 pounds from early adulthood to age 50. What’s responsible for this tendency toward middle-age spread? For most of us, too many calories and too little exercise definitely play a role. But now comes word that another reason may lie in a strong—and previously unknown—biochemical mechanism related to the normal aging process.

Studying ADHD from Genes to the Brain Connectome

Contributed by an NIH clinical trial participant.

A magnetic resonance image (MRI) of a brain

My 8-year-old nephew Luke has a sixth-grade reading level, while still in the third grade. Yet, he often struggles to finish his chores. He carries a timer in his backpack to keep himself on task. His school provides Luke with special assistance, including extra time for tests and repeated, detailed instruction. The challenges arise because Luke, like his mother Rebecca, has attention-deficit/hyperactivity disorder (ADHD).

Isaac Fights to Inspire Others

Reblogged from The Children's Inn at NIH.

Isaac was born to fight. Arriving more than five weeks early by emergency C-section, it wasn’t just his way of coming into the world that made him different from his three brothers. While he initially looked healthy, his parents soon realized Isaac’s health was something he and the entire family would need to be fighting for every single day.

Find and Replace: DNA Editing Tool Shows Gene Therapy Promise

Reblogged from the NIH Director’s Blog.

This image represents an infection-fighting cell called a neutrophil. In this artist’s rendering, the DNA of a cell is being “edited” with a pen-like tool to help restore its ability to fight bacterial invaders.

For gene therapy research, the perennial challenge has been devising a reliable way to insert safely a working copy of a gene into relevant cells that can take over for a faulty one. But with the recent discovery of powerful gene editing tools, the landscape of opportunity is starting to change. Instead of threading the needle through the cell membrane with a bulky gene, researchers are starting to design ways to apply these tools in the nucleus—to edit out the disease-causing error in a gene and allow it to work correctly.

Untangling Alzheimer’s Disease — DNA Damage in Alzheimer’s

Drs. Hyundong Song and Yujun Hou, standing together here in their lab, are postdoctoral fellows working to find ways that doctors may one day effectively treat Alzheimer’s disease.

Given that Alzheimer’s is such a complex disease with many causes and pathways, it is not surprising that the search for effective treatments has proven difficult. So I spoke with Drs. Yujun Hou and Hyundong Song, postdoctoral fellows in the IRP’s Laboratory of Molecular Gerontology at the National Institute on Aging (NIA) to learn more about their approaches to meeting the challenge.