Sometimes It’s a Zebra

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Sometimes It’s a Zebra

In medical school many doctors are taught the old saying “when you hear hoof beats, think horses, not zebras”, which means that doctors should generally consider the most likely possibility first when thinking of a diagnosis.

But what do you do when it is a zebra?

What makes a disease rare? In the United States, the Orphan Drug Act defines a disease as rare if it affects fewer than 200,000 Americans or less than one in 2,000 people. A disease is considered ultra-rare if it affects less than one in 50,000 people.

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A Rare Genomics patient is diagnosed using Genomenon’s Mastermind Search Engine

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A Rare Genomics patient is diagnosed using Genomenon’s Mastermind Search Engine

Los Angeles, CA; February 27, 2019: Getting a diagnosis for a rare disease is a long and often painful journey that can take an average of five years and hundreds of doctor visits. Sometimes, the answer never comes; conventional diagnostics does not always provide a diagnosis for diseases that are only found in one in a million or one in 10 million people. Because most rare diseases are genetic in nature, genomic DNA sequencing can be used to provide answers that conventional approaches cannot.

Most families affected with rare diseases are under financial strain, making access to genetic sequencing technologies difficult. Rare Genomics Institute, a non-profit patient advocacy group, meets these patients at the end of their diagnostic odyssey – when all other means of diagnosis have failed and when financial resources are no longer available to continue the diagnostic process. Rare Genomics has created an ecosystem of leading technology partners and genetic experts from top research institutions around the world to give patients access to world-class genomic sequencing, data analysis and interpretation services. Often, Rare Genomics works with their partners and volunteer experts to re-analyze cases that have hit a dead end. 

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Bridging Health and Social Care for Rare Disease Day 2019

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Bridging Health and Social Care for Rare Disease Day 2019

Rare Disease Day is held annually on the last day of February to raise awareness about rare diseases. This effort is targeted at the general public as well as those who influence legislation, research, and healthcare decisions that affect rare disease patients. The first Rare Disease Day took place on February 29, 2008. Since this day only occurs every four years on a leap year, it signifies the rarity of rare disease.

The theme of this year’s Rare Disease Day is “bridging health and social care”. This addresses the need for better coordination of all aspects of rare disease care including medical, social, and support services. The theme sheds light on how performing daily tasks can be difficult for rare disease patients and their caretakers. Activities such as cooking a meal, shopping, and cleaning the house can be difficult or impossible for someone with a disability.

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Tenth Annual Rare Disease Day

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The last day of February is a day to create awareness and let patients and affected with rare diseases be heard. This year, February 28th marks the tenth year of Rare Disease Day.

Rare Genomics (RG) participated last year, and we will again this year be a part of a day where rare diseases get the attention they deserve. This day patients worldwide stand together and make their voices heard, and RG wants to be a part of this.

What is Rare Disease Day?
Rare Disease Day seeks to raise awareness amongst both the general public and decision-makers about rare diseases and how living with these impacts patients’ lives.

Many different organizations participate in Rare Disease Day events. Rare Disease Day started in 2008 as a European phenomenon - but today it has expanded into be a worldwide phenomenon. Hundreds of patient organizations work to raise awareness for the rare disease community in their countries all year around, but on the last day of February they get extensive public and political attention.

The last day of February was chosen as Rare Disease Day since February 29th is the rarest day and only occurs every fourth year.

The official poster for Rare Disease Day 2017

Join us for Rare Disease Day
Rare Disease Day is an opportunity for RG to draw attention and awareness to rare diseases. The awareness is important in order to hopefully diagnose and cure many more patients with rare diseases in the future.

Please join us and participate in Rare Disease Day! Your donation to RG will help patients living with a rare disease. By donating to RG and being part of the tenth Rare Disease Day you contribute to a brighter future for the patients - a future without rare diseases.

Read more about Rare Disease Day and RG's participation here and donate by clicking the button below. Thank you!