For Rare Disease Day 2022, NHLBI experts available to discuss rare heart, lung, and blood conditions

WHAT: To raise awareness about Rare Disease Day on February 28, researchers from the National Heart, Lung, and Blood Institute (NHLBI) are available to share updates about research designed to support people living with rare or uncommon heart, lung, and blood conditions.

WHY: In the U.S., a condition is considered rare if it affects less than 200,000 people. That means about 25 to 30 million Americans – or 1 in every 11 to 13 people – live with one of roughly 7,000 rare diseases.

WHO: NHLBI researchers with expertise in idiopathic pulmonary fibrosis, a rare lung disease; Duchenne muscular dystrophy, a rare muscular disease; and sickle cell disease, an inherited blood disorder, are available to discuss recent research advancements.

THE RESEARCH

Idiopathic pulmonary fibrosis (IPF)

IPF is a rare lung disease that occurs in about 1 in 5,000 people and affects about 100,000 Americans. Scientists aren’t sure what causes this rare lung condition, which results in lung tissues becoming hard. In severe cases, scarred lung tissue can interfere with basic functions – like breathing.

To help patients with IPF, which affects people differently, researchers are studying how the lungs function in health and disease. Since IPF is more common among adults ages 50-70, a Normal Lung Aging Cell Atlas serves as a research reference. The Idiopathic Pulmonary Fibrosis Cell Atlas, an online model that maps IPF cells, provides details about what happens during IPF. In addition to studying how lung cells function in health and disease, researchers are pairing this insight with feedback from other systems: genes, biology, and metabolism.

Will taking a microscopic look at IPF enable researchers to create new therapies? Could IPF discoveries lead to new ways to treat other conditions, like chronic obstructive pulmonary disease (COPD)?

Louis Vuga, M.D., M.P.H., Ph.D., program director, Division of Lung Diseases, is available to discuss research related to IPF and other rare lung conditions.

Cardiac complications related to Duchenne muscular dystrophy (DMD)

DMD occurs as a result of a gene mutation that leads to muscle loss. About 1 in every 4,600 boys in the U.S. is born with DMD. The heart’s muscles can also be affected by DMD, which makes it harder for the heart to pump blood throughout the body. Over time, underpowered heart muscles can lead to an irregular heart rhythm or heart failure.

This past year, researchers conducted basic research to assess the possibility of using gene therapy to correct for faulty DMD gene expression in heart cells. They describe this foundational study in Circulation Research. Other researchers are studying similar approaches.

Will future studies and trials lead to new treatment for people living with DMD?

Kristin Burns, M.D., the chief of the Heart Development and Structural Diseases Branch, is available to discuss cardiovascular research designed to help people living with DMD.

Sickle cell disease (SCD)

SCD is considered rare in the U.S. since it affects about 100,000 Americans, but millions of people throughout the world are affected by SCD. In the U.S., 1 in 365 Black children and 1 in 16,300 Hispanic children are born with SCD. The inherited condition can lead to red blood cells “sickling” or forming crescent-shaped cells. These less-flexible cells can then create a traffic jam in the bloodstream and lead to severe complications, including excruciating pain, chest problems, and stroke. Even young children can experience devastating stroke.

To help people living with SCD, researchers have used blood and bone marrow transplants to help their bodies produce healthy levels of hemoglobin, a protein in red blood cells. This approach, which was discovered almost 40 years ago, is viewed as a “curative therapy” for many people living with SCD, but finding a perfect bone marrow match can be challenging. Today, scientists are exploring half-match donors and promising genetic therapies to cure SCD.

Will gene therapy trials advance and become common in the field? Can new treatment options be scaled and delivered in a way that makes a global impact?

John F. Tisdale, M.D., a senior investigator in the Cellular and Molecular Therapeutics Branch, and Courtney Fitzhugh, M.D., a Lasker Clinical Research Scholar who leads the Laboratory of Early Sickle Mortality Prevention, are available to discuss SCD research.

CONTACT: To request an interview with an expert about these and other rare heart, lung, and blood conditions, please email nhlbi_news@nhlbi.nih.gov.