The family of a man who died of acute myocardial infarction (heart attack) and died after a long battle with the disease is now asking that Congress fund research to identify and treat the disease.
The man, who has been described as a model American citizen, was identified by the medical examiner’s office in California as having a genetic mutation called CFTR4 that leads to a heart condition called familial heart failure.
The gene was identified in the body of a woman in California.
His family is seeking the gene to be included in a national registry to help determine the best treatment for the disease, a disease that has plagued America for decades.
The family’s request for the gene is being handled by the National Institute of Health and the National Heart, Lung and Blood Institute.
The National Institutes of Health did not immediately respond to a request for comment.
Familial heart failure, which affects one in four Americans, is characterized by high blood pressure, heart failure and other problems, including heart attack and stroke.
The family of the man who was identified as having CFTR-4 also requested that the National Institutes, the U.S. Food and Drug Administration and other federal agencies establish a national gene registry for the mutation, and that it be accessible to anyone who wants to know their family’s history of heart disease.FAMILY IN DISEASE: What you need to know about the genetic mutation causing familial heart collapse article The request is the latest effort by the family, whose story has been told by more than 30 million Americans since it was first reported in October 2017.
The families of at least 3,700 people with CFTR have been identified, including many who have died of heart attacks.
The mutation is found in the gene coding for the heart muscle protein that is known as myocardin.
In June, the families of three of the four men identified by researchers as having the mutation said they would seek to have the gene added to the National Cancer Institute’s list of genes that could potentially be tested for potential treatment of the disease in a clinical trial.
But they’ve been pushing for the research to be done in the U., not California, and are asking Congress to fund a study to help identify the gene and determine its clinical usefulness.
The National Institutes for Health is one of the main funding sources for CFTR research, but the federal government has been reluctant to fund the effort, saying it’s too expensive.
Congress has already approved $2.2 billion for the National Center for Advancing Translational Sciences, or NCATS, which oversees research on the genetic disease.
That funding covers the development of CFTR diagnostic tools, including genetic tests for CFT, but also will allow NCATS to perform tests that could help detect the gene before it causes a patient’s heart disease and, in the rare cases, its progression.
The CFTR gene is found on chromosome 16.
The genetic mutation leads to familial heart loss in some people, especially in people who have been obese, overweight or have been living in a high-risk area.
The disease is also known as familial hypercholesterolemia.
A person’s CFTR variant is not associated with a specific risk for heart disease or diabetes.
But people who carry CFTR variants have been found to have a much higher risk of developing heart disease than those who do not, a risk that has been linked to other genetic conditions.
The new gene-editing research could help to diagnose the disease before it occurs, and also could help prevent future heart attacks and strokes.
It’s important to have this information because it can help identify people who are at greater risk for developing heart problems and who should receive the best possible treatment, said Dr. Scott Weidner, a cardiologist at the University of California, San Francisco, who led the development and approval of CFCT testing.FREEDOM OF POSSESSING DATA: CFTR genetic testing has come to define research, a topic we often forget.
But how does it work?
article The new gene will help determine whether someone carrying the CFTR mutation is at greater or lesser risk of heart attack, stroke or other health problems, and it could also help identify those who should be targeted for genetic testing to prevent heart attacks or strokes.
The NCATS program is funding the research and NCATS will provide the testing equipment and support.
Weidberg said the gene-testing could also be used to detect people who, for example, have a higher risk for lung disease, diabetes or other conditions, or who have a family history of cardiovascular disease.
If the gene were to be approved, we would expect to see clinical trials in about five years, said Weidenberg.
“It’s just a matter of whether we want to go forward with it or not.”
The FDA, which is the agency responsible for approving drugs, will not have to approve the gene’s use.
We’re hopeful that we’ll have a new drug for CFCT soon