fat

Applying Rare Disease Discoveries to Diabetes

Patients With Rare Metabolic Conditions Yield Insights Into Common Ailments

overweight patient talking with doctor

Young doctors are taught the adage, “When you hear hoofbeats, think horses, not zebras.” Just as you would not expect to find a zebra in your barn, when making a diagnosis, you generally don’t expect to find an unusual disease. However, just as there are still zebras in the world, there are also rare diseases. On Rare Disease Day, celebrated on the last day of February each year, we call attention to the 300 million people affected by them.

Defined as conditions that affect fewer than 1 in 2,000 people, rare diseases pose both challenges and opportunities to medical research. Because they are so uncommon, diagnosis can take years, and treatments may be difficult to obtain or may not yet exist. However, for IRP Lasker Clinical Research Scholar Rebecca J. Brown, M.D., M.H.Sc., the study of several rare metabolic diseases may shed light on the causes of one of the most common diseases in the U.S.

Drug Duo Stokes Body’s Fat-Burning Furnace

Mouse Study Suggests Treatment Strategy Could Benefit Patients with Obesity

fire

It’s bad enough that the excess abdominal fat carried by most individuals with obesity causes widespread inflammation throughout their bodies. To add insult to injury, that inflammation actually makes it harder to use up overloaded fat stores. However, a new IRP mouse study supports a two-pronged pharmaceutical approach that could break this vicious cycle and help improve the health of people with obesity.

Designer Drug Uses Double Whammy to Fight Heart Disease

Custom-Built Molecule May Improve On Its Natural Counterpart

plaque buildup in an artery

Ten years ago, a young woman from Chicago came to the National Institutes of Health with a rare genetic condition. A mutation in her DNA was making her metabolic system malfunction, causing levels of fat molecules called triglycerides in her blood to skyrocket far out of the normal range. This triggered inflammation in her pancreas, a painful and potentially life-threatening condition known as pancreatitis. She couldn’t understand why there wasn’t any kind of treatment to help her.

IRP senior investigator Alan T. Remaley, M.D., Ph.D., took on the challenge with the help of Anna Wolska, Ph.D., a research fellow in his lab. Dr. Remaley leads the Lipoprotein Metabolism Section in the National Heart, Lung, and Blood Institute (NHLBI), where he and Dr. Wolska study lipoproteins, small particles that transport fats such as cholesterol and triglycerides through the bloodstream to be broken down and used by cells for energy. Their efforts to help that young woman ultimately led to the discovery — published last January — of a new strategy for reducing triglycerides in order to treat serious ailments like pancreatitis and heart disease.

Scientists Douse Fat Burning to Combat Cancer

Inhibiting Energy Production Pathway Delays Tumor Formation in Mice

fire truck driving by a birthday party

Despite the common misconception that sugary treats send kids bouncing off the walls, fat actually provides more than twice as much energy as sugar and other carbohydrates. This energy can be a double-edged sword, fueling not just healthy cells but also cancerous ones. A new IRP study in mice suggests that reducing the body’s ability to burn fat molecules for energy could slow the formation of tumors, potentially extending the lives of individuals with strong genetic predispositions to cancer.

Scientific Detour Advances Understanding of Fatty Liver Disease

IRP Study Suggests a Way to Prevent Unhealthy Fat Buildup

liver

Many important scientific discoveries happen when a scientist stumbles across something curious and decides to investigate further. Alexander Fleming, for example, famously discovered penicillin by examining mold that grew in one of his petri dishes while he was away on vacation. A recent IRP study spurred by a similarly unexpected observation could eventually lead to a method of preventing or reversing unhealthy amounts of fat storage in the liver.

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.