2 posts tagged “osteoarthritis”

A Brief History of AKU, the First Genetic Disease Discovered

Posted January 17th, 2013 by

Last week, we announced that we are creating the first open, global registry for alkaptonuria (AKU), in collaboration with the AKU Society.  You may not have heard of this extremely rare disease – which causes a severe, early-onset form of osteoarthritis – but it plays an important role in the history of genetic diseases.  In fact, AKU, which is estimated to affect 1 in 250,000 to 500,000 people, was the very first genetic disease identified in the scientific record.  Strangely, though, the scientific community failed to recognize this landmark discovery until much later.

The chemical structure of homogentistic acid (HGA), the substance that accumulates in the bodies of AKU patients at more than 2,000 times the normal rate due to a genetic mutation. Image courtesy of AKU Society.

In 1902, Sir Archibald Garrod, a British physician interested in childhood diseases, published a paper describing the hereditary nature of AKU in The Lancet.  After observing the frequent occurrence of AKU in siblings, Garrod came to believe that the condition was congenital and possibly hereditary.  Using chemical studies, he set out to disprove the existing theory that AKU was infectious – and succeeded. By 1908-1909, he’d expanded his radical notion of lifelong hereditary disease to other rare disorders: albinism, cystinuria and pentosuria.   In lectures and publications at the time, he became the first person to describe a human condition that followed Mendelian inheritance patterns, the first to propose the concept of recessive inheritance, and the first to mention the importance of consanguinity, or the genetic similarity of blood relatives who marry and reproduce.

As a result of these significant discoveries, Garrod (who passed away in 1936) is now considered the first human geneticist, as well as the father of “inborn errors of metabolism,” an expression he coined. Yet Garrod’s pioneering work was not appreciated during his lifetime.   Part of this may be due to the fact that the term “genetics” itself – as well as the principles behind it – had not yet been formulated when he was alive.  He was far ahead of his time.  According to a 2008 article published in the Journal of Inherited Metabolic Disorders, Garrod “can rightly be deemed one of the most profound intellectuals of the 20th century, whose bequests to science and medicine continue to increase in value.”

Despite over 100 years of study since Garrod’s 1902 publication, there is still no cure for AKU.  Through our new registry – which will bring together AKU patients from around the world, patients who may have never met another AKU patient like themselves – we hope to help both patients and researchers answer fundamental questions and accelerate research focused on this often painfully debilitating disease.   What we will discover, together?  Stay tuned.


Dronamraju K. Profiles in Genetics:  Archibald E. Garrod. Am J Hum Genet. 51:216-219, 1992.

Rosenberg LE.  Legacies of Garrod’s brilliance.  One hundred years—and counting. J Inherit Metab Dis. 2008 Oct; 31(5):574-9.


Get Moving for Arthritis Awareness Month

Posted May 3rd, 2012 by

Did you know that arthritis is the most common cause of disability in the US?  Or that this disease – which affects some 50 million Americans – has more than 100 different types?

Why Is Movement Important?  Obesity Prevalence Is 54% Higher in Adults with Arthritis.

May is Arthritis Awareness Month, a nationwide event sponsored by the Arthritis Foundation (AF) to raise awareness and funds.  All across the country, Arthritis Walks will be held this month as part of the Let’s Move Together campaign, which encourages people everywhere to get moving to prevent or treat arthritis.  That’s because walking is an easy, effective way to keep your joints mobile, lose weight and boost overall health.

Another way you can get involved is by honoring a loved one who is living with (or lived with) arthritis through Hope Through Heroes.  Celebrate your father, mother or another important person in your life by sharing their inspirational story.  Then email your tribute or memorial page to other friends and family, who can post their own testimonials and/or make donation in that person’s name.

Given that arthritis strikes 1 in 5 adults, you likely know someone with the condition.  But you may not know how extensive it is.  A common myth is that arthritis only occurs in old age.  Yet two-thirds of those with arthritis are under the age of 65, and 300,000 of them are children with juvenile arthritis (JA).  (JA itself has several subtypes, including polyarticular onset JA and systemic onset JA.)

Some of the Commonly Reported Symptoms in the PatientsLikeMe Osteoarthritis (OA) Community

At PatientsLikeMe, our rheumatoid arthritis (RA) and osteoarthritis (OA) communities confirm that these two common forms of arthritis can affect people of all ages.  For our 2,737 patients with RA, the most common age bracket is age 40-49.  And amongst our 1,900 patients with OA, the 50-59 age bracket is the largest.  Another key takeaway is that women are disproportionately affected (92% women vs. 8% men for our RA community, and 90% women vs. 10% men for our OA community).

Have you been diagnosed with a form of arthritis?  Got questions for others like you?  Chat with the 19,000+ members of our Muscles, Bones & Joints Room today.