By: Christine Choi & Emily Chesnut. How is it Inherited?  Hereditary Deafness can be caused by both dominant (DFNA#) and recessive (DFNB#) genes.

Slides:



Advertisements
Similar presentations
Cochlear Implants in Children
Advertisements

Alport Syndrome: Dealing with Hearing Loss and Advances in Technology
By: Little6CB18 and Little6CC3
NOTES 24 – Genetic Disorders and Hereditary Diseases
November 29th 2013 By: Briana Fougere
I hope you had a wonderful weekend. Please take out a pen or pencil and a clipboard or your binder for notes. You DO need your note card today. Please.
CSD 5400 REHABILITATION PROCEDURES FOR THE HARD OF HEARING
USHER SYNDROME: What we need to know Annette Hurley, PhD LSU Health Sciences Center.
GENETIC DISORDERS & DISEASES. Types?  Dominant  Recessive  Sex Linked  Chromosomal  Mutagens?
CSD 3000 DEAFNESS IN SOCIETY Topic 1 DEAFNESS & HEARING LOSS Definitions, Prevalence, & Myths.
Fragile x syndrome By Jordon Nagel.
Hayley Dardick and Taylor Kiyota. How is it inherited?  Color blindness is usually inherited and is due to mutations on the X chromosome.  Mutations.
By Katie Vandergriff. A group of brain development disorders Roots are in early brain development See signs between ages 2-3 Not just one type/cause of.
What is Huntington’s disease? It is a progressive degeneration of the nerve cells in the brain. This disease cause uncontrolled movements, emotional problems,
Biology 8.4 Complex Patterns of Heredity
Cochlear Implants Xavier Castellanos Edu 674.
Morrie Hudiburg and Sara Fraser Period 3
GENETIC TESTING: WHAT DOES IT REALLY TELL YOU? Lori L. Ballinger, MS, CGC Licensed Genetic Counselor University of New Mexico Cancer Center.
Objective 15 & 16 Hearing Loss and Deaf Culture By: Tiera Henderson && Brittani Vinson.
Huntington’s Disease By: Ari Naccarato (Press space bar to change slides and make sure the volume is up!)
F ocus Area 28 Vision and Hearing Progress Review October 20, 2004.
By Garcelle.Herke Period 3
Cystic Fibrosis By: Olivia DeCoste.
Cochlear Implants American Sign Language Children & Cochlear Implants Psychological Evaluation of Implant Candidates James H. Johnson, Ph.D., ABPP Department.
Human Genetics Webquest Alex Henson. MEDICAL How does a person inherit it? Is it dominant or recessive?  95% of the time it is caused by “de novo” mutation,
Bacterial Meningitis Among Children with Cochlear Implants By: Jordan Hoel Calvin Keyes Dustin Movinsky Erica Whitson.
By Mitch & Russell. How Does a person inherit it? Is it dominant or recessive?  This disease can be passed down from parent to child. It is autosomal.
Skeletal and Muscular. Brittni Parrish..
Human Genetic Disorders Biology. Mutations Sometimes genes are damaged or copied incorrectly. A change in a gene is called a mutation. Mutations are a.
By: GP. Medical Answers Q: How does a person inherit Klinefelter’s Syndrome? Is it dominant recessive, sex-linked, too many/ too few chromosomes, or a.
By: Jack Wernet.  “A gene on one of the non-sex chromosomes that is always expressed, even if only one copy is present.” (Human Genome Project Information.
 Could you tell?  Tay-Sachs is a mental disorder, the fatty substance called ganglioside G M2 build up in tissues and nerve cells in the brain. 
Prevalence and Causes of Hearing Loss. Prevalence of Hearing Loss Each year in the United States, more than 12,000 babies are born with a hearing loss.
Achondroplasia (dwarfism). Medical Achondroplasia is a dominant, autosomal mutation. One would inherit this condition if the parents carried the gene.
Infant Hearing Loss Tyrell Hardtke
HUNTINGTON’S DISEASE MAGGIE PHOEBE LEONORA BY:. NAME OF DISORDER? ARE THERE OTHER NAMES FOR DISORDER/DISEASE (WHAT ARE THEY)? Huntington's disease -first.
Sample Genome Slides Julia Koble Making Connections Between Genes and Diseases CDC’s 2005 Science Ambassador Program.
Retinitis Pigmentosa (RP)
Autosomal recessive inheritance: the basics a tutorial to show how the genes segregate to give the typical pedigree pattern Professor P Farndon, Clinical.
Cri-du-chat Syndrome By: Maddy Gordon. What is Cri-du-chat syndrome? Cri-du-chat syndrome is a rare chromosomal condition that results when a piece of.
 Autism is a disorder affecting children’s ability to communicate. Autism makes it hard on Children to do many things that come easy to an unaffected.
Deafness By joely, Nick, Kelsey. Description Deafness is referred to people who can’t hear, understand or process words well. The degree of deafness varies.
 True or False 1.A person’s chances of developing a hereditary disease are determined only by his or her genes 2.The Human Genome Project has allowed.
Aperts Syndrome (Acrocephalosyndactyly) By: Madison Weckerly.
Hemophilia By: Maya Kolakowski. What is Hemophilia? Hemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood.
POLYDACTYLY Kelly Lorenzi Per 3. How it is inherited  Inherited as an autosomal dominant trait  You can carry the allele for it and it will show in.
Usher Syndrome By Andy Beer. What is Usher Syndrome Usher Syndrome is a genetic disease on witch you lose the ability to hear and see. The major symptoms.
Tay-Sachs Drew Sivertsen. History Tay-Sachs is named after two physicians Warren Tay – was an ophthalmologist who was the first to discover a red dot.
FAMILIES WITH DEAF CHILDREN KEY CONCEPTS. How is the birth of a deaf child viewed by many Deaf parents Many Deaf parents prefer Deaf children. They are.
Copyright © by Holt, Rinehart and Winston. All rights reserved. ResourcesChapter menu Other Diseases and Disabilities Chapter 15.
 Also known as Autism Spectrum Disorder  The word Autism comes from the Greek word “autos” meaning “self.” The term describes conditions in which a.
PEDIGREES. PEDIGREE IF MORE THAN ONE INDIVIDUAL IN A FAMILY IS AFFLICTED WITH A DISEASE, IT IS A CLUE THAT THE DISEASE MAY BE INHERITED. A DOCTOR NEEDS.
Pedigrees 4/13/2010 Pedigrees The risks of passing on a genetic disorder to offspring can be assessed by genetic counseling, prenatal testing, and by.
By Breanna Benson. Auditory Neuropathy Spectrum Disorder (ANSD) is a form of hearing loss in which: * outer hair cells in the cochlea function normally.
Cystic Fibrosis By:YaYPhineas(Edward). What is Cystic Fibrosis? A genetic disorder that affects your digestive and respiratory system You inherit a defective.
Usher syndrome By Andy Beer.
Hearing Loss.
Cochlear Implants.
Your Ear…. Your Ear…..
What does this protein make up or do?
Inheriting a Genetic Disorder
Deletion Syndrome Chan Woo Lee.
Cri du Chat Ilana Horton.
Pedigrees.
Autosomal dominant inheritance: the basics
Autosomal recessive inheritance: the basics
Presentation transcript:

By: Christine Choi & Emily Chesnut

How is it Inherited?  Hereditary Deafness can be caused by both dominant (DFNA#) and recessive (DFNB#) genes.

Possible Genotypes?  Parents can have either the nonsyndromic dominant genotype DFNA# or the syndromic recessive DFNB to pass on hereditary deafness to their offspring. As long as one or the other exists, there is a chance of producing a deaf child.

Prevalence in Population?  2 to 3 of every 1000 children in the U.S. are born deaf or hard of hearing  9 out of 10 babies born deaf, have parents who can hear  3 to 6% of deaf children and 3 to 6% of hard or hearing children have usher syndrome  4 of every U.S. babies have usher syndrome

Chances of Passing on?  Although this disease can be passed on with either dominant or recessive genotypes it is more likely to cause deafness in many generations to come with the existence of the dominant genotype.

How is it Diagnosed?  Hereditary deafness is diagnosed by ontological, audio logical, and physical examinations  Family history, ancillary testing (CT exam of he temporal lobe) and molecular genetic testing (testing that involves the analysis, sequencing, or several methods of mutation detection.) are also considered and used to diagnose hereditary deafness

Physical Symptoms?  The physical symptoms of this disease can vary from immediate deafness from the beginning of one’s life to a progressive hearing loss throughout the span of one’s lifetime.  The severity of deafness can vary as well but is often enough to affect basic communication ability

Life Expectancy?  People with deafness have the same life span as everyone else. They can live a normal healthy life, they just can't hear as well.

How is it Treated?  There are numerous methods of treatment or assistance to help people with hereditary deafness live a healthy, “normal”, life.  One of them is simply the use a hearing aid to amplify the sound around them.  Another option of treatment is getting a cochlear implant which is a surgical implantation of a device that artificially stimulates the cochlear nerve giving the person a sense of sound.

New Treatments?  Scientists are researching using gene therapy to treat hereditary deafness.  They are also always trying to make newer and better hearing aids.

What is Everyday Life Like?  The two main obstacles that individuals with deafness face is they can’t easily communicate with others and are thus inhibited from developing strong social skills. Sign language allows communication but is only known by few people

What are their Limitations?  Deaf people are only limited in the hearing sense. All other senses are normal.  Communication can be difficult because they have to use sign language and others need to know sign language. They often need some type of assistant to help them.

Organizations?  There are countless organizations across the nation that provide information, resources, and services.  The Hearing, Speech-Language and Learning Center at Beth Israel Medical Center  The New York Eye and Ear Infirmary, Department of Otolaryngology, Cochlear Implantation  Alexander Graham Bell Association  American Society for Deaf Children (ASDC)

How possible is it that a cure will be found?  It is very possible that a cure will be found. Scientists from the University of Iowa and researchers from Okayama University in Japan have shown a potential method to cure a type of hereditary deafness by stopping the gene that causes the hearing loss. They have tested it and it worked on mice.

Sources  "The Children´s Hearing Institute -- Organizations & Assoc." The Children's Hearing Institute - Hearing Loss, Cochlear Implants. Web. 02 Mar  "Cochlear Implant." Wikipedia, the Free Encyclopedia. Web. 02 Mar  "Hearing Impairment." Wikipedia, the Free Encyclopedia. Web. 02 Mar  Web. 02 Mar SourcesWikipediahttp://en.m.wikipedia.org/wiki/Hearing_impairment?wasRedirecte d=trueNIDCDhttp://en.m.wikipedia.org/wiki/Hearing_impairment?wasRedirecte d=trueNIDCD    08/new_study_shows.html 08/new_study_shows.html