Wednesday, August 26, 2015
Tuesday, August 25, 2015
Friday, August 21, 2015
Thursday, August 20, 2015
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 twisted double-strand of building blocks, called nucleotides. It is like a twisted ladder, with the vertical stringers made of phosphates and sugars and the rungs made of pairs of nucleotides. There are four nucleotides in DNA: adenine (A), thymine (T), guanine (G), and cytosine (C). Also important is that on each rung of this ladder, A always pairs with T, and G always pairs with C. These nucleotides along the ladder are like letters in a word, and put together in their specific order make up the words in a detailed set of instructions. These instructions are read using a special code, called the genetic code.
GenGenome Management Information System,
Oak Ridge National Laboratory
Oak Ridge National Laboratory
Within cells, DNA is organized into long structures called chromosomes. A chromosome is like a cookbook with many recipes (or genes) that tell the body how to function. The human body is made up of trillions of cells and over 200 different cell types like various blood, liver, and brain cell types. Each cell contains 46 chromosomes. Each chromosome can be identified by its relative size and location of the centromere, a constriction in the chromosome.
Tuesday, August 18, 2015
Hello dear members, we have an open letter from Dr. Peter Tishler to share with you.To: Individuals with Acute Porphyrias, who are Members of American Porphyria FoundationSubject: Communication to us the benefits of your medicationsDear Folks,I have established the American Porphyria Foundation Drug Database, for you all to consult for drug safety (or not) when you are prescribed a new medication. I received information from many of you several years ago, and added lots of your information to the Drug Database. I write you now to ask you to report me the names and results of any drugs you have been taking since the beginning of 2013, so that I can compare your report with the Drug Database and hopefully add new information (OK! or BAD!) to the Database.Please complete the attached table and send it to the American Porphyria Foundation at 4900 Woodway Dr. Ste 780, Houston, TX 77056, or copy this table and send it back to us via Email. Many thanks!
Medication Name Date Started Stopped Problem with Medication No Yes - Date No Yes - Nature of Problem "Remember.... Research is the key to your cure!"
What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...
Erythropoietic Protoporphyria What is erythropoietic protoporphyria? The word ‘erythropoietic’ means associated with red blood cells (‘...
Emergency Room Guidelines for Acute Porphyrias These Emergency Room Guidelines (download PDF) cover essential information for the emer...