Rare diseases

glimpse into the idea that modern day human diseases that afflict us actually have a significant role in the selection and existence of our ancestors. Before reading this book, I was used to thinking of diseases as disorders that adversely affect a person. While this may be the case for most individuals, Moalem explained in his book that that there’s an underlying connection between various diseases and longevity of a species. He explained how these diseases helped fight against more life…

• With advanced technology, many incurable diseases in the past become curable nowadays. However, have you ever imagined that we can get rid of genetic disorders one day? This is no longer a pipe dream. CRISPR/Cas9 is bringing us light. • Genetic disorders are not only limited to those rare ones e.g. Down Syndrome—a genetic disorder associated with characteristic facial features, physical growth delays, and mental retardation. According to Melissa Conrad Stöppler, a U.S. anatomic pathologist,…

Warrior” helmet-like features, such as a broad, flat nasal bridge, high forehead, widely-spaced eyes/protruding eyes. Other features could be shortened distance between the upper lip and nose, downturned mouth or a smaller chin. It is a particularly rare disease, noting it is only present in about 1 in 50,000 births. There is also a condition called Pitt-Rogers-Danks syndrome that overlaps with Wolf-Hirschhorn, but only recently have researchers realized that they’re both in a single syndrome.…

Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease is a transmissible, rapidly progressing, neurodegenerative disorder, closely related to “mad cow disease” (Gale, 2013). CJD is can be confused as Alzheimer's, but CJD is more rapidly progressing and ultimately leads to death. It is one of many ‘spongiform encephalopathies’ disease that causes fluid filled spaces in the brain called vacuoles that make the brain have a sponge-like appearance. There is an estimated 250 cases per year in the United…

Cancer, a disease that claims the lives of millions of individuals each year. Almost everyone in the world seems to be familiar or knows a loved one or friend with cancer these days. Cancer is so common that nearly 7.6 million people die from it around the world each year, and the number is progressively getting larger. The main question in today’s time is “Why doesn’t everyone get cancer?” Studies show that lifestyle, genetic disposition, and chance are reasons that people do get cancer.…

many diseases in the world today it is pretty much impossible to find a cure for all of them. One of the diseases that doctors have been studying and have so far, unsuccessfully found a cure for is Tay—Sachs Disease. If I were a Genetic Counselor who had to speak with a couple and inform them about their child having the disease, I would provide them with the following information and approach them as follows: Your child has been diagnosed with a disease referred to as Tay—Sachs Disease, a…

000 deaths are recorded each year due to CVDs. An average of 425 individuals suffer from CVDs and death occurs once every three minutes (British Heart Foundation, 2015). On the other hand, respiratory disorders such as chronic obstructive pulmonary disease (COPD) and asthma had taken lesser amount of victims each year. Globally, less than 3 million people are…

Eventually, as individuals become older the symptoms will progress and individuals can be affected by all the symptoms. Fortunately, individuals with CMT do not have a shorten lifespan. Individuals with Charcot-Marie-Tooth Disease most commonly have abnormal feet. It is rare that an individual with CMT would not need any sort of orthotic (Wahl, 2006). However, for orthotics to work it is important for them to fit. Weakness in the lower leg muscles on the front part of the leg produces the foot…

1. Define allopathic medicine and at least two criteria that support allopathic viewpoints. Allopathic medicine, which is also known as biomedicine or Western medicine, involves the treatment of diseases using surgery, radiation, or pharmaceutical drugs. All of these treatments are used to quickly treat and suppress symptoms in the body. Because allopathic medicine is not holistic, every drug or procedure has a distinct purpose. It is acceptable to remove organs in order to save other organs…

Introduction By definition Rhabdomylosis is a rare disease that causes a breakdown of muscle tissue that releases a damaging protein into the blood. Fewer than 200,000 people are diagnosed in the United States yearly. Rhabdomylosis causes an excess level of myoglobin, which can and eventually will cause further injury. There are multiple causes of this disease such as trauma, nontraumatic exertional rhabdomyolysis, and other miscellaneous causes. Risk factors range from seizures to alcoholism…