Orphan Diseases

The European Organization for Rare Diseases considers orphan diseases to be those that are rare (occur in 1 in 1500 to 1 in 2500 patients, according to US Rare Disease Act 2002 and European Commissi...

Drug Development for Rare Diseases

The economics of any industry relies on a large demand for a particular product; this applies to the pharmaceutical industry where efforts are focused on big and relatively straight-forward diseases...

Duchenne muscular dystrophy - DMD

Duchenne muscular dystrophy (DMD) is a severely debilitating childhood neuromuscular disease that affects 1 in 3,500 live male births. This rare disease is caused by mutations in the dystrophin gene...

Huntington's Disease

Huntington's disease is a hereditary disease caused by a defect in a single gene on Chromosome 4 that is inherited in an autosomal dominant fashion. The defect causes a part of DNA, called a CAG...

Eye disease

Rare Disease Day initiatives from Boehringer, Shire and Genzyme

Today is Rare Disease Day and many companies, both pharma and rare disease organisations, have announced their support for this awareness initiative. Today marks the sixth international Rare Disease...

Studies in mice confirm that mutations in the gene, UBE3B, cause a rare genetic disorder in children

Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is th...

What Does the 2013 Rare Disease Day Slogan Mean to You?

This year’s theme for Rare Disease Day is “Rare Disorders Without Borders.” It shows that rare diseases are a global issue, and if we work together in solidarity, we can create a better world fo...

Living With A Rare Disease

We know the math:  In the U.S., a disease is rare if it affects fewer than 200,000 people. There are over 7,000 rare diseases. Taken together, these rare diseases affect between 25 and 30 million Ame...

Gene Mutations Cause Rare Genetic Brain Development Disorder

Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is th...

Rare disease research: the current and future state

Today is Rare Disease Day – this article, which is the last in the series by Siren Interactive, is an interview between Wendy White and PPMD CEO, Pat Furlong, about the importance of rare disease re...

Genzyme marks 2013 International Rare Disease Day

Genzyme, a Sanofi company, today announced its support of International Rare Disease Day with a series of initiatives meant to call attention to rare diseases as an important public health issue and t...

pharmaphorum to host rare disease Twitter chat

To coincide with Rare Disease Day, pharmaphorum will be publishing a number of rare disease articles throughout February. We’ll also be hosting a Twitter chat on Friday 1st Feb - read on to find out...

From Molecules to Behavior: Lessons from the Study of Rare Genetic Disorders.

Rare diseases are defined as conditions with a prevalence of less than 1/2,000. To date between 6,000 and 7,000 rare diseases have been identified and many of those have manifestations that include in...

Enhancers: from developmental genetics to the genetics of common human disease.

In mammals, long-range gene regulation became apparent through simple Mendelian disease genetics in human and developmental genetics in the mouse. Can the insights into gene control, provided by the s...

Developmental venous anomaly of the internal auditory canal in a child with unilateral sensorineural hearing loss-a rare association.

Developmental venous anomalies (DVAs) are extremely unusual in the cerebellopontine angle region and internal auditory canal, and constitute a rare etiology of unilateral sensorineural hearing loss (S...

A rare mitochondrial disorder: Leigh sydrome- a case report.

ABSTRACT: Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly...

Developmental motor function plays a key role in visual search.

Adults often miss a disturbingly high percentage of rare targets in visual arrays. The mechanisms underlying this effect remain hotly debated. This study examines the effects of developing motor contr...