Tay-Sachs Disease Tay-Sachs disease (TSD), an inherited neurodegenerative disease, was named for Warren Tay and Bernard Sachs who were two independently working doctors. In 1881, Dr. Tay, an ophthalmologist, discovered a red spot in the back of the eye on the macula, which is used as a clear sign for diagnosing children that are affected by the disease. Several years later, Dr. Sachs noted the actual cellular changes of the disease. Also, he observed that the disease was much more common in babies of Easter- European Jewish descent. Figure 1: An example of a “cherry spot” in the back of the macula, which Dr. Tay identified as a sign of Tay-Sachs disease.
Red Blood Analysis: Presence indicates renal dysfunction. Chemistry: * Genetic Screening indicates that Mr. Newman has a mutation on Chromosome 16. * The mutation results in the formation of an abnormal membrane protein called polycystin. Cellular Defects: * A genetic mutation has resulted in the formation of cysts in Mr. Newman’s kidneys. * Cysts form when cells in a region of the nephron divide rapidly.
Dementia with Lewy Bodies can be closely related to Parkinsons Disease and there is a theory that Dementia with Lewy Bodies interferes with two neurotransmitters called dopamine and acetylcholine which assist in the brains functions. In Frontotemporal dementia – Picks Disease, the brain shrinks in the frontal and temporal lobes and a build of specific protein’s occur in these areas. Once the proteins come together, they become toxic and cause brain cells to die. It is not understood why these proteins build up. There are other dementia types too, namely Creutzfeldt-Jakob Disease (CJD) caused by an abnormal infectious protein call Prion which cause nerve damage to
Bio 1. What is sickle cell disease? Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood disorder, characterized by red blood cells that assume an abnormal, rigid, sickle shape. 2. What causes sickle cell disease?
He did his work in the name of the Nazi ideology, while also having his own goals in mind. Mengele, wanting to unlock the secrets of genealogy so that he could create the perfect race, cared for no one. Doctor Josef Mengele, a genius with the wrong goals in mind, conducted torturous experiments on hundreds of patients and sent a countless number of people to their death. Josef Mengele was born three years before World War I on March 16, 1911, in Germany (Cefrey 14). He was born to Karl and Walburga Mengele and the eldest brother of three.
Duchenne Muscular Dystrophy (DMD) is caused by a defective gene for a protein called dystrophin. This gene was discovered around 1986-1987 by Dr. Ronald Worton at the Hospital for Sick Children in Toronto and Dr. Lou Kunkel at Boston Children’s Hospital. Being the first disease-causing gene to be found helped pave the way for more advances in gene discovery. The gene turned out to be massive which caused a great amount of effort. Today the gene is known as the largest human gene.
MEASLES SZT TASK 3 REBEKAH HIGHTOWER A. Measles Measles, what is it? Measles is one of the most highly contagious viral diseases and sadly it can be a fatal disease. This disease took the life of 164,000 children worldwide in 2008(Measles, 2014). It is caused by an infection called the rubeola virus.
Also known as Stone Man Syndrome, Fibrodysplasia is a mutation of the body’s repair mechanism that causes fibrous tissues such as muscle, tendon and ligament tissues to ossify (turn to bone) spontaneously or when damaged. Fibrodysplasia ossificans progressiva is an autosomal dominant disorder, mainly affecting those who are heterozygous
Amyotrophic Lateral Sclerosis: Lou Gehrig’s Disease Amyotrophic Lateral Sclerosis: Lou Gehrig’s disease Amyotrophic lateral sclerosis (ALS) – a devastating neuromuscular disease that strikes adults in the prime of life – has puzzled physicians since it was first described in medical literature more than 100 years ago. ALS was made famous by baseball legend Lou Gehrig – but anyone can get this disease. ALS is a fatal disorder that causes progressive muscle paralysis. ALS is a terminal neurological disorder that robs patients of their ability to dress themselves, eat, walk, and speak. Patients generally survive three to five years after being diagnosed, with death generally occurring due to respiratory failure.
Cystic Fibrosis: An In Depth Study Rachel Mcnally's Author Note This paper is being submitted on June 16, 2013, for Rachel Mcnally’s G150 Structure and Function of the Human Body course. Cystic Fibrosis: An In Depth Study What if I could tell you of a disease that affects 70,000 people worldwide (“What You Need to Know”, n.d.)? What if I could tell you of a disease that is hereditary so that there is nothing you can do to cause or prevent it? What if I could tell you of a disease that is so deadly that even after years of study there is no cure, and everyone who contracts it eventually dies? What if I could tell you about a disease that is so lethal no matter how many medications you take or how many treatments are performed,