sequencing

Mislabeled Proteins Linked to Birth Defects

IRP Researchers Discover Genetic Disorder Affecting the Brain and Skull

baby

A baby is born with a birth defect every four and a half minutes in the United States, adding up to one in every 33 babies born each year in this country. While some birth defects can be corrected or treated, many result in life-altering disabilities, and sometimes the child doesn’t survive. In fact, birth defects account for about 20 percent of infant deaths in the U.S. World Birth Defects Day, celebrated on March 3 each year, honors the people and organizations who are working to understand, prevent, and treat birth defects.

One of these organizations is the Undiagnosed Diseases Program (UDP) at NIH, which connects experts across the IRP’s 23 Institutes and Centers in a joint effort to find explanations for the “most puzzling medical cases" referred to the NIH Clinical Center.

IRP’s Charles Rotimi Elected to American Academy of Arts and Sciences

Pioneering Genetic Epidemiologist Takes a Global Approach to Fighting Health Disparities

Dr. Charles Rotimi

IRP distinguished investigator Charles Rotimi, Ph.D., was elected to the American Academy of Arts and Sciences this year in recognition of his pioneering work exploring the health implications of genetic diversity in populations with African ancestry, as well as for globalizing the study of genomics, particularly in African nations. Dr. Rotimi joined NIH in 2008 as the founding director of the Intramural Center for Genomics and Health Disparities in the National Human Genome Research Institute (NHGRI), which was later renamed the Center for Research on Genomics and Global Health, in part to reflect Dr. Rotimi’s globe-spanning research programs.

A New Understanding of What’s Living on Your Skin

Five Questions with Dr. Heidi Kong and Dr. Julia Segre

microbes within a human body

When people think of skin health, they often think of protecting it from harmful UV rays or finding ways to avoid the fine lines and wrinkles that often come with aging and sun exposure. However, there are many factors and illnesses that impact skin health, including eczema, a chronic condition that affects tens of millions of Americans and causes the skin to become red and so itchy that it can interfere with patients’ sleep.

To combat such conditions, IRP researchers have spent decades investigating what causes them in humans through techniques such as immunology, genetics, molecular biology, and structural biology. In a 2014 study of healthy volunteers, IRP investigators Julia Segre, Ph.D., and Heidi Kong, M.D., M.H.Sc., used the latest genomic techniques to investigate the collection of microorganisms living on healthy human skin, known as the skin microbiome, in an attempt to understand how this collection of bacteria, fungi, and viruses may contribute to skin health. From their interdisciplinary research, the team was able to show that the array of microbes living on human skin is extremely diverse, varying greatly from individual to individual and between different areas of the body. This research opened doors for additional studies exploring how changes in the skin microbiome contribute to both common and rare skin diseases.

Plugging the Gaps in the Human Genome

Supercomputing Helps IRP Researchers Complete Our Genetic Blueprints

DNA sequence

While the Human Genome Project accomplished a remarkable feat in sequencing all the genes in the human genome, technological limitations still left significant swaths of our genetic blueprints unexplored. Recent advances in DNA sequencing are starting to fill in those gaps, but these new technologies require new computational tools to make sense of the data they generate. That’s where computer scientists like the IRP’s Adam Phillippy, Ph.D., come in.

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.

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.

Shared Resources Help IRP Researchers Do Science

Scientists in the NIH Intramural Research Program (IRP) go to work each day in the biomedical equivalent of a candy store. The advanced equipment and shared tools readily available to researchers doing basic, translational, and clinical science in the IRP are unmatched anywhere else, which enables high efficiency and productivity within the IRP’s unique discovery model. Read more...

IRP Resources Pop Quiz: What Can We Do for Your Science?

As an “I Am Intramural” Blog reader, you likely know that the IRP is comprised of more than 6,000 scientists conducting basic, translational, and clinical research in more than 50 buildings on six different IRP campuses around the U.S.But, do you know the answers to the questions in the following IRP Pop Quiz?

Researchers at the NIH IRP have access to:

a) Laboratory equipment sales, rental, repairs, and maintenance
b) Plants and marine organisms for research
c) High-throughput DNA sequencing
d) A and C
e) All of the above

Learn the answer...