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Showing posts from October, 2015


Please don't forget to fall back this weekend!

DNA Diagnosis of Porphyria- Important Clarifications by: Robert Desnick, M.D., PhD

DNA Diagnosis of Porphyria- Important Clarifications   by:  Robert Desnick, M.D., PhD. 
 It has come to our attention that some Porphyria patients have sent their DNA to 23andMe or to other commercial companies, and have gotten results suggesting that they have “DNA confirmed Porphyria”. We are concerned that results from companies other than DNA testing laboratories that have experience in diagnosing porphyrias may provide patients with misleading information.
A major issue with DNA testing is whether a gene alteration (variant or mutation) is pathogenic (disease-causing) or benign (a change in the gene that does not cause or make one at-risk for the disease). For example, 23andMe does NOT do gene sequencing, but does determine if you have various gene alterations in the porphyria genes, all 57 of which are benign, and are not disease-causing but occur in a particular gene in which other lesions are in fact disease-causing. The benign lesions usually are identified by an “#rs” number. T…

A Microbiologist Recreated 'Starry Night' With Bacteria In A Petri Dish And it's not too shabby.

AGAR ARTby Melanie Sullivan of Missouri If only Vincent van Gogh could have lived to see this strikingly accurate reproduction of his iconic "Starry Night" -- especially since, instead of oil on canvas, the work is a bacteria on petri. Because even with these most minute of materials, the night sky still swirls with a palpable momentum of wind, fog and moonlight. The work of science-savvy art is the product of Melanie Sullivan, a microbiologist who submitted her microscopic masterpiece to the American Society for Microbiology's first Agar Art contest. The competition invited microbiologists to get in touch with their cultural sides in more ways than one, exploring the infectious beauty of infectious bacteria.  The multitalented scientists used proteins, yeast and good ol' fashioned bacteria to create visions of flowers, skeletons, butterflies -- even a map of New York City. Check out all of thestunning submissions here, and see the winning works below. 
A Microbiolog…

A Poem of Encouragement

Frequently asked questions about Porphyria!

Frequently Asked Questions General Questions:How does one get porphyria?
Most porphyrias are inherited.  However, one type, Porphyria Cutanea Tarda (PCT), may either be inherited (also referred to as “familial”) or “sporadic” due to various environmental factors.  In each type of porphyria there is a deficiency of a specific “enzyme”.  These enzymes are involved in the synthesis of “heme”, a substance important to many body functions and are found in large amounts in bone marrow and red blood cells (which contain hemoglobin), and also has an important function in the liver and muscles. The type of porphyria present is determined by which enzyme is deficient; these enzyme deficiencies are usually inherited. Environmental factors, such as drugs, chemicals, diet, and sun exposure can, depending on the type of porphyria, greatly influence the severity of symptoms. How are the porphyrias inherited?  Can my children inherit porphyria from me?
The inherited porphyrias are either autosomal domi…

57th American Hematology Society Meeting

57th American Hematology Society Meeting
The APF will be exhibiting at the 57th American Hematology Society meeting in Orlando , Fl. The convention is held from December 5 to 8. We would like to ask you to help us man the exhibit booth. We hand out physician education materials at the convention for the 8000 attendees.  Since many of you visit with hematologists, and since hematologists treat and diagnose many patients, we attend the ASH meeting each year as a part of our physician education program. As the premier event in malignant and non-malignant hematology, this meeting will provide attendees with an invaluable educational experience and the opportunity to: Review more than 3,000 scientific abstracts highlighting the updates in the hottest topics in hematology Interact with the global community of more than 20,000 hematology professionals from every sub-specialty Attend the hallmark Education and Scientific Program sessions Network with top minds in the field Please volunteer to help ma…

Genetics 101 of Porphyria

Genetics 101:  Basic genetics and inheritance In order to better understand the Porphyrias and how the disorders are inherited, it is helpful to understand some concepts of basic genetics and inheritance patterns. DNA, Chromosomes, and Genes:Deoxyribonucleic acid (DNA) is a nucleic acid that contains the instructions used in the development and functioning of all known living organisms and some viruses. DNA is often compared to a set of blueprints or a recipe or a code because it contains the instructions needed to make certain proteins, which are the complex molecules that do most of the work in our bodies. Each of these proteins has a specific function in the cell, and, ultimately in how the organism develops, its physical makeup, and how it functions day-to-day. The DNA segments that carry this genetic information are called genes. The size of each gene varies greatly, and there are about 20,000 genes that are distributed along the 23 pairs of chromosomes. A DNA molecule is a twist…

Clinuvel and FDA discuss EPP indication and regulatory pathways for SCENESSE®

Clinuvel and FDA discuss EPP indication and regulatory pathways for SCENESSE®
The attached document discusses the latest news from FDA and Clinuvel: Type C meeting provides guidance for follow up and further discussions between FDA and Clinuvel. Clinuvel Pharmaceuticals Limited (ASX: CUV; ADR:CLVLY; XETRA:DAX) today announced that on September 30 it met in Silver Spring, USA, with the US Food and Drug Administration's (FDA's) Division for Dermatology and Dental Products (DDDP) and representatives of the Center of Drug Evaluation and Research (CDER). The objective of the meeting was to discuss the US regulatory review of SCENESSE® (afamelanotide 16mg) to be made available to American erythropoietic protoporphyria (EPP) patients. In 2014 SCENESSE® was granted marketing authorisation by the European Medicines Agency as a prophylactic photoprotective drug for adult EPP patients. The DDDP stated that it was seeking a regulatory pathway to make SCENESSE® available in the US, and the reg…

CME Course share with your Medical community today

New Continuing Medical Education Course CMEExciting New Continuing Medical Education CourseCME With Drs Herbert Bonkovsky, Lisa Kehrberg and Brendan McGuire.  Medscape has produced an outstanding new physician education video that can be found on the Medscape website.
Acute Intermittent Porphyria: A View From the Trenches: Herbert Bonkovsky, MD;  Brendan M. McGuire, MD, MS;  Lisa Kehrberg, MD
CME/CE Released: 09/25/2014; Valid for credit through 09/25/2015 Please advise your physicians of this free CME course for CME credit.
You, too, can watch the video by joining the complimentary Medscape online site.   You can register easily and view this and other porphyria videos, as well as a host of additional excellent articles written about all types of porphyria.  
Our thanks to Dr Bonkovsky, Dr Kehrberg and Dr McGuire.  

AIP Research Experiences

Will you help with medical research?

                                                        Why is important?  
What does it entail? 
                                                                                       When does this research happen?
                              What Happens?

   Take a look at a few who have expressed why research is so important!
Tracy Yelen ~ Research Experience Type of Porphyria:  Acute Intermittent Porphyria (AIP) "If you're at all interested in what they are doing to me in this Panhematin trial, I am happy to share. During the entire stay, the medical team accessed my port.  They drew all the blood they wanted without all the usual IV sticks, which is nice. Every morning after breakfast we did the infusions, which may or may not be a placebo.  Neither the nurses nor I were allowed to see what was pumping into me.  So I am blindfolded and there are sheets hung in the room to cover the medicine and tinfoil around the lines. It takes only a c…

Your APF Membership

Your APF Membership We are currently working on the next issue of the Newsletter, where you can find latest news, updates and stories from the porphyria world.Our members, who made deductible charitable contributions, will receive the fresh issue. The APF is able to maintain our physician and patient education programs and many other services because of your support. Since we do not receive government funding, we need your support and donations. Is your membership and contact information up to date? If you have moved, please update us with your current address. Be sure to send us your email address so you can receive the E-news.
Support the APF with AmazonSmile for Charitable Organizations! You can also support the APF through the AmazonSmile program! Amazon will donate 0.5-0.8% of the price of your eligible purchases to us, at no cost to you. Please make us your choice of a charitable organization, support the research while shopping! Please note, the program will only be available to sho…