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Showing posts from December, 2016


May you enjoy your family and friends!

Global Genes is hosting the first-ever RARE in the Square event in San Francisco! See the announcement below for details! A Unique Partnering Opportunity for Rare Disease Innovators January 9th – 11th, 2017

Global Genes is hosting the first-ever RARE in the Square event in San Francisco! See the announcement below for details! A Unique Partnering Opportunity for Rare Disease Innovators January 9th – 11th, 2017
A Catalyzing RARE Community Event
Global Genes is pleased to announce the first-ever RARE in the Square (RITS) hosted January 9 -11, 2017 in San Francisco’s Union Square. The inaugural RITS will coincide with the JP Morgan Healthcare Conference (JPM), creating the opportunity for rare disease focused companies and organizations to network at the epicenter of JPM-related activities in a unique, one-of-a-kind space. The focus on rare disease innovation continues to increase at the JP Morgan Healthcare Conference. “The rare community involvement and representation at the JPM Healthcare Conference is growing annually,” comments Nicole Boice, CEO and Founder of Global Genes. “However, the rare disease community’s true presence and impact hasn’t been represented at its fullest – until thi…

Alnylum Pharmaceutical UPDATE

At the request of Desiree Lyon: Alnylum Pharmaceutical has nearly completed Phase I of the new porphyria drug ALN-AS1 with very promising results. Alnylum specializes in RNA interference (RNAi) treatments which target specific cells that are the root cause of various diseases. Alnylum targets rare diseases that currently have limited treatments, especially blood disorders such as hemophilia and acute porphyria. Researchers and doctors worldwide agree that porphyria is an extremely rare genetic disease in which the patient does not properly produce heme, an important molecule in blood, which causes a build up of naturally occurring neurotoxins ALA and PBG. These neurotoxins build up in the liver and eventually spill into other areas of the body causing a variety of symptoms including severe abdominal pain, nausea, vomiting, constipation, diarrhea, painful body aches, muscle weakness, paralysis and in some cases psychosis, encephalopathy and death. ALN-ASI or Givosiran (gi-VOH-sir-an) targ…

Are you prepared for a widespread disease or epidemic?

How to Reduce Your Risk During an Epidemic In 2014, the Ebola virus spread rapidly throughout West Africa, making headlines around the world.  How did you help people to understand the danger they faced? We sought to dispel fear and confusion by making special presentations at public places. In those presentations, we explained how the virus spreads and warned against unsafe practices. What practical steps were taken? We used infrared thermometers to check the temperature of those arriving for meetings at our places of worship. Everyone carefully avoided unnecessary physical contact, such as shaking hands or hugging, and washed their hands frequently throughout the day. At strategic locations throughout the communities, handwashing stations were set up with a bleach solution. What happened if someone showed symptoms? Authorities were notified. Any individuals who had been in contact with an Ebola victim, had attended a funeral of a victim, or showed symptoms kept themselves isolated for…

Protect Yourself From Disease

Protect Yourself From Disease
MANY ancient cities were protected by massive walls. If an enemy breached just a small section of a wall, the safety of the entire city was at risk. Your body is like a walled city. How you care for your defenses has much to do with how healthy you are. Consider five elements that can expose you to disease and how you can put up the best possible defenses. 1 WATERTHE THREAT: Harmful organisms can “march” straight into your body by way of contaminated water. YOUR DEFENSE: The best defense is to protect your water supply from contamination. If you know that your water supply is contaminated or suspect that it is, you can treat the water at home to make it safe.* Store potable water in a closed vessel, and dispense it hygienically with a clean ladle or through a tap. Never put your hands into a clean water supply. If possible, you should try to live in a community that properly disposes of human waste so that it does not contaminate local water sources. 2 FO…

Disease—How to Reduce The Risk

Disease—How to Reduce The Risk Every day your body wages war against enemies that are silent and unseen but potentially deadly. Foreign invaders, such as bacteria, viruses, and parasites, threaten your health.* You are not likely to be aware of those battles because your immune system repels or destroys most of the invaders before the onset of symptoms. Sometimes, however, the harmful germs gain the upper hand. If so, you may need to bolster your defenses with medicine and other treatments. For thousands of years, people knew virtually nothing about the dangers of microscopic or other small harmful organisms. However, when 19th-century scientists confirmed the link between germs and disease, we became better equipped to defend ourselves. Medical researchers have since eliminated or greatly reduced the threat of some infectious diseases, including smallpox and polio. Recently, however, others, such as yellow fever and dengue, have made a comeback. Why? Consider these factors: Every ye…

EPP Online docket Question's for FDA

Following the FDA meeting for EPP that was held in October, the FDA opened an online public docket for EPP people to submit comments.  This docket is open to attendees of the meeting AND those that were unable to attend in person.  The FDA is particularly interested in hearing patients' perspectives on the questions discussed during the workshop.  These questions are pasted below for your reference.  If you have any questions, please email
Comments MUST be submitted by December 24, 2016.  Submit your comments through this website:
The FDA has also posted a full recording of the EPP meeting.  You may view the recording here:

Discussion Questions
1. Of all the symptoms that you experience because of your condition, which 1-3 symptoms have the most significant impact on your daily life? (Examples may include itching, burning, pain, scarring, etc.…

AIP & Life story of Claire Sadoniczak

Claire SadowniczakType of Porphyria:  Acute Intermittent Porphyria (AIP)
Claire Sadowniczak of Orlando, Florida, is a member of the APF. She keeps the group encouraged and laughing. Her stories about her turtle Alamo are sheer delight and lessons in tenacity for all of us. My mother and I have AIP; I started attacks at age 11. One thing that gives me great pleasure is rescuing a wild animal, nursing it back to health and releasing it back into the wild. One rescued 5" brown and black Florida mud turtle left me a present, an egg. It hatched on a freezing day, so I couldn't release it. The black hatchling was smaller than a dime, the shell still soft when I picked her up. I carried her in the palm of my hand as I was preparing a tank of gravel with a plastic sour cream lid as her "pond". We went to the pet store to try to find food small enough for her. They said I'd never keep her alive and she's now 11 years old. When I finally put her into her tank, she ran to…