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Rare Genetic Disorders

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Julie Therien

on 27 May 2011

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Transcript of Rare Genetic Disorders

Rare Genetic Disorders Progeria Epidermodysplasia verruciformis Fibrodysplasia Ossificans
Progressiva Works Cited: What is Progeria? http://mysecretsidewalk.com/wp-content/uploads/2011/03/progeria_thumb.jpg http://wiki.ggc.usg.edu/mediawiki/index.php/Progeria caused by several papillomaviruses, lifelong, viral-mediated, autosomal recessive disorder, some are genetically predisposed, causes flat or raised wart-like lesions "Progeria - MayoClinic.com." Mayo Clinic. N.p., 23 Apr. 2011. Web. 17 May 2011. http://www.mayoclinic.com/health/progeria/DS00936 Symptoms Cures and Treatments No cure for Progeria Other treatments to ease/delay symptoms
low dose aspirin
other drugs
physical/occupational therapy
extraction of primary teeth
investigational treatment http://www.pharmainfo.net/sirisha/progeria What is FOP? Symptoms Cures and Treatments http://connect.in.com/fibrodysplasia-ossificans-progressiva/photos-fibrodysplasia-c16c49ca06981e84.html http://ooglea.com/weird-diseases-fibrodysplasia-ossificans-progressiva/ Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford Progeria Syndrome Scaffidi, Paola , and Tom Misteli. "Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford Progeria Syndrome." National Center for Biotechnology Information. N.p., 6 Mar. 2005. Web. 18 May 2011. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1351119/ The mutant lamin A mRNA and protein can be eliminated After splicing correction:
fibroblasts assume normal morphology
nuclear distriubution/cellular levels are rescued
defects in histone modifications are corrected
lamin A is restored
proper expression of genes http://www.ifopa.org/en/symptoms.html "FOP Symptoms." Welcome to The IFOPA. N.p., n.d. Web. 18 May 2011. http://www.ifopa.org/en/symptoms.html "Fibrodysplasia ossificans progressiva - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. N.p., n.d. Web. 18 May 2011. . http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva 700 confirmed cases across the globe
185 known cases in the United States No cures No effective treatments
surgery makes the condition worse by Julie Therien and Nicole Carrejo What it is Symptoms Cures and Treatments http://livingtextblog.andosciasociology.net/2010/12/09/jennifer-carbajal-fgcu-social-problems-hpv/ Shafritz, Adam B., Eileen M. Shore, Francis H. Gannon, and Michael A. Zasloff. "Flies, lymphcytes and Bones." Biology @ Davidson. N.p., 8 Nov. 1996. Web. 23 May 2011. http://www.bio.davidson.edu/courses/molbio/restricted/02bone/bone.html Overexpression of an Osteogenic Morphogen in Firbrodysplasia Ossificans Progressiva Prediction: increased production of bone morphogenetic proteins causes FOP Method: measured expression of mRNA of bone morphogenetic proteins 1 to 7 Results: only bone morphogenetic protein 4 and its mRNA were present in increased levels Conclusion: overexpression of bone morphogenetic protein 4 in lymphocytes is associated with FOP progressive genetic disorder causes children to age rapidly begins in the first two years of life average life expectancy = 13 years 100 recorded cases worldwide but only 35-45 active cases Causes single spontaneous gene mutation lamin A (LMNA) which makes a protein necessary for holding the nucleus together the mutation makes the cell unstable which leads to aging Progeria is not passed down in families slowed growth
narrowed face
hardening/tightening of skin
large head
thin lips
high-pitched voice
irregular heartbeat
diminished body fat and muscle muscle tissue and connective tissue are replaced by bone causes loss of mobility
leads to difficulty speaking, malnutrition, difficulty breathing trauma can trigger muscle swelling followed by rapid ossificaition death usually occurs due to crushing of organs Causes mutations in the ACVR1 gene
ACVR1 provides intstructions for producing bone morphogenetic protein type 1 receptors
controls growth and development of bone/muslce inherited in an autosomal dominant pattern
most cases are a result of a new mutation mutations cause the receptors to be constantly on which causes overgrowth of bone begins in the neck and shoulders and progresses down the body malformed toes are the first sign although they cause few problems kids with FOP do not crawl, instead they scoot on their butts Causes 1:29 Now to lighten the mood... Host Defenses Against Human Papillomaviruses: Lessons from Epidermodysplasia Verruciformis -caused by inactivating mutations on either end of genes
-2 recent observations from article
-EV may represent a deficiency in intrinsic, constitutive immunity to betapapillomaviruses, or be a deficiency in innate immunity -starts in childhood - thin wart-like lesions of hands, extremities, back, and neck
-manifests in infancy, childhood, or puberty
- small warts in young people, usually well over a hundred warts
- sun exposed areas caused by a defect in cell mediated immune response to HPV infection no cure!
-liquid nitrogen
-cancerous and noncancerous warts can be surgically removed
-sun is avoided
-oral and topical treatment SpringerLink - Abstract . (n.d.). Welcome to SpringerLink . Retrieved May 25, 2011, fromhttp://www.springerlink.com/content/u3075246p1673589/

Cohen, J. (n.d.). Epidermodysplasia Verruciformis- Information & Treatment. SG & Singapore Map - Singapura, Singapur, Singapore Information. Retrieved May 25, 2011, from http://www.streetdirectory.com/travel_guide/113285/medical_conditions/epidermodysplasia_verruciformis__information__treatment.html

Medscape: Medscape Access. (n.d.). Medscape: Medscape Access. Retrieved May 26, 2011, from http://emedicine.medscape.com/article/1131981-overview
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