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Read our latest stories on the people and scientific innovations making a difference in patients’ lives.
What are the Gaucher Disease Symptoms
Q: What is Gaucher disease?A: Gaucher disease is a rare, inherited disease. It was first described by Dr. Philippe Gaucher in 1882 and is caused by genetic mutations (a permanent change in the DNA of a gene) received from both parents. In people with Gaucher disease, the body’s cells do not produce enough of an enzyme called glucocerebrosidase (pronounced “GLOO-ko-SERe-bro-sy-dase”). Without enough of this enzyme, people with Gaucher disease can’t break down a fatty substance found in cells...
Living with Psoriasis: Beyond Just Skin
Psoriasis is a chronic immune mediated inflammatory disorder that affects approximately 2% of the world population or 140 million people worldwide. In the U.S, approximately 7.4 million adults have psoriasis. This chronic disease is known for its effects on the skin, which occurs when the immune system mistakenly triggers skin cells to overgrow. As a result, the life cycle of cells is sped up and an excess of them can form inflamed patches of skin that may occur anywhere on the body, especially...
Clinical Trial Practices—Safeguards in Research
If you or a loved one is considering joining a clinical trial, you may be happy to know that research studies today have strict safeguards, standards of ethics, and are highly regulated. In many cases, participating in this type of research may be one of the most closely monitored types of medical treatment available. The clinical trial process is different than it used to be, yet unfortunately the accounts and memory of practices that no longer exist may still make people uneasy about...
What You Need to Know About Sunscreen
More than 2 million people in the US are diagnosed with skin cancer every year. Unprotected skin exposed to ultraviolet (UV) radiation can also lead to several other adverse health effects, such as sunburn, premature skin aging, eye damage, and weakened immune system. The American Cancer Society states that simply staying in the shade is one of the best ways to limit exposure to UV radiation. However, if you are in the sun, it is recommended that you cover up with clothing, hat and sunglasses...
Joining a Clinical Trial: What to Know Before You Enroll
As a scientist who has been involved in running clinical trials for the past 30 years, I have seen first-hand how patients have contributed to and benefited from participating in a clinical trial. I am very pleased to have this opportunity to thank all of the many clinical trial participants who have taken part in research over the years. Because they enrolled in trials, new promising therapies have been understood in terms of safety and efficacy, and new therapies have become available to help...
5 Myths About Dementia
MYTH: Dementia is a disease FACT: Dementia is not a disease. Instead, it describes a group of symptoms that affects the ability to think, remember things, and reason to a degree such that a person’s activities of daily living are impaired. Other changes can include trouble with language or communication, and unexpected changes in mood and behavior. MYTH: All types of dementia are the same FACT: There are many different types of dementia—though some are more common than others. Some of the...
What Do You Really Know About Metastatic Breast Cancer?
As a public health initiative, breast cancer awareness has been generally successful. Patients, families, physicians, and advocates have worked diligently to make the disease better understood and synonymous with strength, survivorship and scientific breakthrough. With improved screening efforts and increasing numbers of available therapies, breast cancer is often discovered and treated in early-stage; as a result, a steady increase has occurred over the past 30 years in survival rates for...
When Should You Speak Up at the Doctor’s Office?
We’ve all seen the healthcare system undergo major changes. Providers, patients, and policymakers all share the desire for these changes to result in improved access, enhanced quality for patients and reduced healthcare costs within the system. And though it used to be common for patients to be relatively passive when receiving care, you may now find yourself being invited to participate more fully in the process of your own health and wellbeing. This is true whether you have a chronic condition...
Taking Medication During Pregnancy
The reality is that some women get sick and are diagnosed with serious diseases during pregnancy. Or they may have a chronic illness that needs to be managed while pregnant. Sometimes making the decision whether to take medication during pregnancy is not so easy. It is difficult to study new medications in pregnant women, and even more difficult to assess the effects of medication on the developing fetus. Pregnant women are considered a vulnerable group by regulatory agencies and ethics...
Empowering Patients to Overcome the Social Stigma of Psoriasis
Managing psoriasis—an immune-mediated dermatologic condition, characterized by red, scaly plaques and/or lesions on the skin—can be challenging in of itself. But one aspect of psoriasis that is not as apparent to the visible eye is the social stigma and misperception that many people with psoriasis often deal with. This can include people asking inappropriate questions, making rude comments, or steering clear because they’re afraid it’s contagious. As a dermatologist, I have come across many...
Clinical Trials for Children – Why Are They So Important?
When doctors prescribe a medication, they may rely on the drug label (or US prescribing information) to help them understand how to use it safely and successfully. This prescribing information document comes along with a prescription medication and provides detailed information which comes directly from research studies and clinical trials: How the medication works in the body What specifically the medication has been approved to treat in the US (e.g., high blood pressure, high cholesterol...
Taking Medication and Breastfeeding
A breastfeeding mother may find herself in a difficult and complex situation when faced with making medical treatment decisions, especially when she is managing or becomes diagnosed with a health concern or chronic illness. As with pregnancy, much remains to be known about the effects of many medications on the breastfeeding infant. Often the mother and her healthcare provider are left to discuss treatment options with limited information available to them. There are very few large, randomized...
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