Loading presentation...

Present Remotely

Send the link below via email or IM

Copy

Present to your audience

Start remote presentation

  • Invited audience members will follow you as you navigate and present
  • People invited to a presentation do not need a Prezi account
  • This link expires 10 minutes after you close the presentation
  • A maximum of 30 users can follow your presentation
  • Learn more about this feature in our knowledge base article

Do you really want to delete this prezi?

Neither you, nor the coeditors you shared it with will be able to recover it again.

DeleteCancel

WAGR Syndrome

No description
by

morgan brown

on 7 December 2014

Comments (0)

Please log in to add your comment.

Report abuse

Transcript of WAGR Syndrome

When?
The discovery of WAGR Syndrome was a long process that all started in 1953, when Dr. Brusa and Dr. Torricelli discovered that aniridia and Wilms tumor were associated with each other. 11 years later, Dr. Miller also astablished this in 1964 when he noted that out of 440 Wilms tumor patients,6 also had aniridia. Out of those 6, 3 also had mental retardation. This later led to the discovery of genital abnormalities among the 440 patients. Furthermore, studies continued until 1978 where genealogists discovered the deletion in the 11p13, and WAGR Syndrome was made official.
Where?
Due to the fact that WAGR Syndrome is completely random, WAGR is found all over the world. Since WAGR is rare, the more people in a population the more likely WAGR Syndrome will be present.
Who is Involved in the WAGR Community
How Is This Connected To The Course?
WAGR Syndrome is connected to the SBI 3U Genetics Unit due to the fact that WAGR Syndrome is an example of a deletion (in WAGR Syndrome's case chromosome 11p13). In the unit, students learn of the ways the process of meiosis can fail; deletions, translocations,and addition/loss of whole chromosomes being examples of such.
Bibliography
http://www.wagr.org (IWSA)

http://www.genome.gov/26023527 (Learning About WAGR)

http://wagr.org/images/WAGR_SYNDROME_BY_CAROL_L._CLERICUZIO,_MD.pdf (WAGR Discovery)

http://www.orpha.net/consor/cgi-bin/Directory_RegisterNewsLetter.php?lng=EN ( EUCERD News Letter)
WAGR Syndrome
Presentation by Morgan Brown

Are There Any Support Groups?
Yes! Thankfully there are some support groups for the families and patients of WAGR Syndrome, most of which are non-profit. These organizations provide knowledge, advise and councilors for anyone affected. One company called the International WAGR Syndrome Association does just that as well as creating awareness and knowledge to everyday people. The IWSA hopes that one day their efforts will create more research and studies to be set in place, to better the lives of all who are affected.
Why Do We Care?
What is WAGR Syndrome?
WAGR Syndrome is a very rare, and inheritable, genetic disorder most common in young children at birth. The cause of this syndrome is a deletion of a group of genes on chromosome 11 (11p13 is the specific spot).The term "WAGR" refers to the symptoms associated with the syndrome:
-
Wilms Tumor
: The most common type of kidney cancer in children.
-
Anrirdia
:The irises in the eyes fail to develop during the pregnancy(in WAGR's case). Patients suffering from WAGR almost always have either a partial or full loss of the iris(colored part).
-
Genital/Urinary Problems
:A wide range of genital and urinary issues can be present in WAGR patients. Underdeveloped ovaries and fallopian tubes are common in girls while the urinary tract opening somewhere along the shaft of the penis rather than the tip, is common for boys.
-
Mental Retardation
: The mental disabilities of WAGR patients vary from person to person. Many have mild-severe metal development issues while there has been a few cases where the child displays normal intelligence.


Phenotype
Often WAGR patients will have uneven teeth and will suffer from obesity/ high cholesterol. Poor muscle tone and strength are concerning issues as well. As far as behavior issues, many patients will have either autism, ADD, OCD, anxiety, or some form of depression.
All WAGR patients are born with WAGR, as the syndrome is formed in the meiosis stage of the patients life, and no specific gender or person is more likely to have it. WAGR is completely random. Unfortunately,not many large organizations (like the NHGRI) are preforming clinical studies on WAGR, but a small handful of smaller organizations are. These organizations are as followed:
-The International WAGR Syndrome and 11p Deletion Study
-Joan C. Han, M.D. (WAGR investigator)
-http://clinicaltrials.gov/ct2/show/NCT00228696 (National Wilms Tumor Study)


Most studies are conducted on the WAGR symptoms (like Wilms tumors) then the overall syndrome.
The time when WAGR Syndrome is
discovered in a patient can
be right after the patient is born. A karyotype can not help due to the fact that it is a deletion of a gene, not the loss or addition of a chromosome.
Tragically,not many people do care. While there are many support groups and some current studies,not many people are even aware of this condition. The people who do care however, care because they are affected in some way. It could be they know someone with it, or have it themselves, but because the condition is so rare, people who care come few and far between. Scientifically we care because patients usually die early due to kidney failure.
The interesting thing about WAGR Syndrome is that WAGR is a disorder composed of
different
symptoms. Due to the fact that the 4 different symptoms are
different
,treatment can be held in almost some well equipped children's hospital. For example, the Wilms tumors can be surgically removed in any hospital that has the equipment, and psychiatric hospitals can work on behavior issues.However, Anrirdia and genital abnormalties can be harder to fix
*NOTE* WAGR patients must
have at least 2/4 of the
W.A.G.R symptoms.
Quote #1
Quote #2
“The mission of the IWSA is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives”
-The International WAGR Syndrome Association's motto/goal
"There is no disease so rare, that it does not deserve attention"


-European Union Committee of Experts on Rare Diseases (In Their October 2014 News letter
Full transcript