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Showing posts from August, 2016

Rare Disease United Foundations Beyond the Diagnosis Art Exhibit

We would like to share that Rare Disease United Foundation's Beyond the Diagnosis Art Exhibit will be the headline story on CBS News Sunday Morning with Charles Osgood airing this Sunday, August 28th at 9:00am EST. We are very excited they are bringing national attention to rare diseases and the issues surrounding rare diseases. This group now has master artists from around the world donating their time and talent to paint children with rare diseases. Their goal is to put a face to all 7,000 known rare diseases. The Rare Disease United Foundation is a non-disease speciļ¬c, community-based organization, working at a state-level on legislation that has a direct impact on people living with a rare disease, providing support locally, and establishing relationships at local hospitals and medical schools. For more information about the Rare Disease United Foundation, please visit http://rarediseaseunited.org/ or email at info@rarediseaseunited.org.

RSVP FOR EPP MEETING with the FDA 10/24/16 Info

Hello everyone! We are very excited about the number of people we have already had RSVP for the upcoming meeting at the FDA. While we finalize the details of the meeting, here are a few things to keep in mind. PLEASE read everything carefully and feel free to contact me if you have ANY questions!
THINGS TO KNOW FOR THE FDA MEETING FOR EPP:1. The FDA Meeting is Monday, October 24th from 10AM – 4PM. The meeting will last the entire time, please plan your travel accordingly.
2. RSVPing to the APF DOES NOT register you for the FDA meeting. MAKE SURE you are registering at THIS LINK by October 17th, 2016. The same link is used for registering in person and via webcast.https://www.eventbrite.com/e/scientific-workshop-for-erythropoietic-protoporphyria-epp-registration-24971245668
3. Make sure your valid Driver’s License, State ID or USA Passport matches the name you register with! You will need to show proof of ID before entering the FDA meeting. If you have already registered and it does not, …

HEP Type of Porphyria Read & Share

Hepatoerythropoietic Porphyria (HEP)What is Hepatoerythropoietic Porphyria? HEP is a deficiency of the enzyme uroporphyrinogen decarboxylase; it is the autosomal recessive form of f-PCT. The manifestations of HEP resemble Congenital Erythropoietic Porphyria (CEP), with symptoms of skin blistering that usually begin in infancy. Skin photosensitivity results in severe blistering and scarring, often with mutilation and loss of facial features and fingers. Increased hair growth (hypertrichosis) on sun-exposed skin, brownish-colored teeth (erythrodontia), and reddish-colored urine are common. There may be bone fragility due to expansion of the bone marrow and vitamin deficiencies, especially vitamin D. Red blood cells have a shortened life-span, and mild or severe hemolytic anemia often results. Synthesis of heme and hemoglobin is actually increased to compensate for the shortened red blood cell survival and is associated with splenomegaly. Bacteria may infect the damaged skin and contrib…

Dr. Peter Tishler's Retirement

The APF would like to extend wholehearted congratulations to esteemed porphyria expert, Dr. Peter Tishler, on his recent retirement.  Dr. Tishler has been a treasured member of the APF and our Scientific Advisory Board for many years and we THANK YOU for your invaluable service to the porphyria community!
We welcome his colleague, Dr. Joel Krier, to the APF.  Dr. Krier has been mentored by Dr. Tishler and we look forward to working with him.  If you are looking for a porphyria expert in the Massachusetts area, please contact the APF and we will gladly put you in touch with Dr. Krier.
Thank you, Dr. Tishler!  We wish you the best!







"Remember....Research is the key to your cure!"

APF Announcements

The American Porphyria Foundation wants YOU to be aware that there are many trials going on in the Porphyria community.  

This is critical to learning more about the Porphyrias, and ultimately a cure.  Current steps for instance for those who suffer from EPP have a chance to meet with the FDA for approval soon of a new drug.  In addition, the Acute Porphyrias are being treatment for a new type of drug.  

We are always looking for those who are interested in participating in research answering questions, to travel and meeting with an expert or more importantly getting a better manageable system in place to manage your type of Porphyria.

Please use this link to learn more about the trials at the below links:

https://clinicaltrials.gov/ct2/results?cond=%22porphyria%22

http://rarediseases.org/

Also note:
If you have not become a member of the American Porphyria Foundation why not do so today. 
 Membership is free.  

 If you would like to make an annual contribution to the APF of $30.00 
you will be…

Diagnosis & Management of the Porphyrias:Diagnosis & Management of the Porphyrias: Part 4

Inheritance Pattern in Porphyrias Part 3

 Inheritance Pattern
Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria. Autosomal dominant porphyrias include acute intermittent porphyria, most cases of erythropoietic protoporphyria, hereditary coproporphyria, and variegate porphyria. Although the gene mutations associated with some cases of porphyria cutanea tarda also have an autosomal dominant inheritance pattern, most people with this form of porphyria do not have an inherited gene mutation. Other porphyrias are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the cond…

Porphyria Genetic Part 2 https://ghr.nlm.nih.gov/condition/porphyria#genes Read & Share

Frequency:  The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never experience signs or symptoms. Acute intermittent porphyria is the most common form of acute porphyria in most countries. It may occur more frequently in northern European countries, such as Sweden, and in the United Kingdom. Another form of the disorder, hereditary coproporphyria, has been reported mostly in Europe and North America. Variegate porphyria is most common in the Afrikaner population of South Africa; about 3 in 1,000 people in this population have the genetic change that causes this form of the disorder.Genetic Changes Each form of porphyria results from mutations in one of these genes: ALADALAS2CPOXFECH,HMBSPPOXUROD, or UROS. The genes …

Read & Share: Porphyria 101- https://ghr.nlm.nih.gov/condition/porphyria

Read& Share: Porphyria 101- https://ghr.nlm.nih.gov/condition/porphyria
Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).
Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.
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