precision medicine

Genetic Sequencing Solves Drug Reaction Mystery

Immune System Genes Linked to Severe Side Effects in Patients with Rare Disease

computer monitor showing the results of DNA sequencing

When you run the largest-ever study of a rare childhood disease, you become the go-to person when your peers notice something peculiar in patients with the illness. It was not too surprising, then, when a researcher from Stanford University in Palo Alto, California, asked IRP investigator Michael Ombrello, M.D., to help her team follow a new lead in the mystery of why some patients with a rare inflammatory condition called Still’s disease were coming down with a life-threatening lung ailment. The results of their collaboration could lead to a new precision medicine approach that individualizes therapy for Still’s disease based on patients’ DNA.

Innovation Awards Spark New Intramural Collaborations

Program Boosts Initiatives Supporting Researchers Across NIH

scientists talking in a lab

From Superbowl-winning football teams to comic book cohorts like The Avengers, combining the efforts of multiple talented individuals is a proven strategy for achieving remarkable results. It may come as no surprise, then, that the NIH’s Intramural Research Program (IRP) strongly encourages collaborations that breach the boundaries of its 24 Institutes and Centers. One example of these efforts is the Director’s Challenge Innovation Awards Program, which since 2009 has funded high-impact scientific projects that bring together researchers from across the IRP.

Genome Modifications Affect Protein Variation in Tumors

Examining DNA Methylation Could Facilitate Targeted Cancer Therapy

DNA double helices

As an amateur home chef, I know from experience that the ingredients you use can dramatically alter the way a recipe turns out. Leave out oregano and your tomato sauce will be bland; add too much red pepper and your plate of pasta will scorch your tongue.

In this way, it turns out, cooking is a lot like the process by which your genes manufacture the proteins that keep your body running. Just like the same recipe can result in a delicious or disappointing meal depending on how you modify it, a certain gene can produce several varieties of a single protein that behave in different ways. In some cases, these alterations may lead to disease. New IRP research has revealed that a genetic regulatory process called DNA methylation can contribute to cancer by changing which forms of a protein a gene produces.1

Shedding Light on the Deep Darkness of Depression

Dr. Carlos Zarate with a participant in a neuroimaging study

In 2016, more than one in twenty American adults and one in ten adolescents experienced at least one major depressive episode. For nearly 45,000 of these individuals, their condition was severe enough that it led them to take their own lives. Unfortunately, the medications currently available to treat depression are not always effective and can take up to six weeks to substantially reduce symptoms.

To improve treatment and accelerate symptom relief, IRP senior investigator Carlos Zarate Jr., M.D., is working towards the development of new medications for depression, along with the identification of new drug targets and objective measures called biomarkers that yield information about how a patient is responding to treatment. In recent years, his lab has extensively investigated and assessed the effects of the anesthetic drug ketamine on depression and suicidal thoughts. Many of the patients in his trials have had marked and rapid responses to ketamine, sometimes within a single day or just a couple of hours. 

On Tuesday, November 13, Dr. Zarate participated in a Reddit “Ask Me Anything” (AMA) to answer questions from the public about the way depression is currently treated and the latest efforts to develop cutting-edge therapies for the condition. Read on for some of the most interesting exchanges that took place or check out the full AMA on Reddit.

Francis Collins, NIH Director, Answers Reddit’s Genomics Questions

two young boys looking down at the genetic code

Ever since the Human Genome Project (HGP) launched in 1990, patients and members of the public have been inundated with predictions about how unraveling the mysteries of genetics will revolutionize healthcare. Today, many of these promises remain unrealized, prompting some to become skeptical of the true utility of this research for improving human health. But, while more work is needed to fully realize the potential of genome-focused medicine, it remains true that patients are benefiting from our knowledge of the human genome in numerous, sometimes under-appreciated ways.

A New Cures Act, a New Research Beginning

Janus, the Roman god of transitions

Many cultures through history marked the new year in the spring, at the vernal equinox in March when the daytime and nighttime at the equator are equal lengths, 12 hours each. That certainly makes sense: Spring is a time of renewal, as the earth is giving birth to new crops. And I'm surely in the mood for some renewal. One of the most exciting things I have to report is the 21st Century Cures Act, which was signed into law on December 14, 2016.

The Long Run

On Monday, January 26, about 150 people tackled the Arrowhead 135 ultramarathon, a race through 135 miles of frigid landscape near International Falls, Minnesota. They biked, ran, and skied for almost 70 hours in -30°F air to reach their goal.

winter runner