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GENETIC CONDITIONS AND THE SCIENCE OF GENETICS

Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes. A syndrome is

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Page 1: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

GENETIC CONDITIONS AND THE SCIENCE OF GENETICS

Page 2: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.

A syndrome is a particular disease or disorder with a specific group of symptoms that occur together.

Page 3: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

Down syndrome

Down syndrome is one of the most frequently occurring types of chromosome mutations.

have characteristic facial features and shorter stature and may be prone to developing heart defects and diseases such as Alzheimer’s and leukemia.

Ninety-five percent of the cases of Down syndrome are caused by an extra 21st chromosome

Page 4: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

Cystic Fibrosis

is a common recessive genetic disease which affects the entire body

Difficulty breathing is the most serious symptom

multitude of other symptoms, including sinus infections, poor growth

Page 5: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

Allderdice Syndrome

One genetic disease was discovered in the isolated community of Sandy Point, on the west coast of the island of Newfoundland.

caused by a mutation of a single chromosome

a low birth weight, hand and facial abnormalities, and psychomotor dysfunction

Page 6: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

MAJOR SHIFTS IN SCIENTIFIC UNDERSTANDING OF GENETICS

Mendel’s experiments Watson and Crick’s double helix model of DNA Human Genome Project genetic engineering

Page 7: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

Mendel’s experiments

Gregor Mendel developed the model of heredity that now bears his name by experiments on various charactersitics of pea plants: height (tall vs. Short); seed color (yellow vs. Green); seat coat (smooth vs. wrinkled), etc.

He mapped out traits in plants through cross breeding experiments.

Page 8: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

Watson and Crick’s double helix model of DNA

April 1953 James Watson and Francis Crick presented the structure of the DNA-helix,

in 1962, they shared the Nobel Prize in Physiology or Medicine

When you shine X-rays on any kind of crystal – and some biological molecules, such as DNA, can form crystals if treated in certain ways – the invisible rays bounce off the sample.

Page 9: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

Human Genome Project

Begun formally in 1990 completion date 2003 identify all the approximately 20,000-25,000

genes in human DNA, determine the sequences of the 3 billion chemical

base pairs that make up human DNA, store this information in databases, improve tools for data analysis, transfer related technologies to the private sector,

and address the ethical, legal, and social issues (ELSI)

that may arise from the project.

Page 10: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

genetic engineering

Genetic engineering, is the direct human manipulation of an organism's genome using modern DNA technology Industrial Agriculture Medicine

Page 11: Understanding which chromosomes have been affected helps physicians diagnose and treat patients with genetic disorders or syndromes.  A syndrome is

CELLULAR FUNCTIONS AND THE DEVELOPMENT OF TECHNOLOGIES

AS our knowledge increases in the use of DNA it is expected that new technologies will develop to exploit this knowledge. Nanotechnology manipulating matter on

an atomic and molecular scale

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CANADIAN CONTRIBUTIONS HEREDITY AND GENETIC ENGINEERING

Dr. Terry-Lynn Young Memorial

University researcher identified the gene

responsible for a condition that causes the sudden death of young men, arrhythmogenic right ventricular cardiomyopathy (ARVC)