2 posts tagged “first genetic disease discovered”

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.


PatientsLikeMe and AKU Society to Develop World’s First Open Registry for Alkaptonuria Patients

Posted January 9th, 2013 by

Online Patient Network to Connect Patients With Rare Disease,
Create Valuable Data for Research

CAMBRIDGE, Mass. — January 9, 2013 — PatientsLikeMe and the AKU Society are working together to create the first open, global registry for patients with alkaptonuria (AKU), one of the world’s rarest diseases and the first genetic disease discovered. Nicknamed “black bone disease,” AKU leads to a condition that causes the bones and cartilage to become black and brittle. Through PatientsLikeMe.com, patients with AKU can now track their disease progression, connect with others who have the disease, and contribute health data to the registry’s real-time research platform.

AKU Society Chairman Nick Sireau says rare diseases affect millions of people worldwide, but questions about them are so costly for nonprofits to investigate that they remain largely unanswered. “More than 100 years after its discovery, we still don’t know exactly how many people have AKU, or what they are doing and experiencing. We’re excited to partner with PatientsLikeMe to help patients connect with each other and help researchers answer some of the most fundamental questions about rare diseases.”

PatientsLikeMe works with nonprofits to establish open registries for both rare and common diseases. With the AKU Society, the company will regularly gather data about AKU patients’ symptoms and daily lives to establish the most up-to-date source for new medical evidence about the disease.

PatientsLikeMe Co-Founder and Chairman Jamie Heywood says, “This open registry will give anyone—hospitals, pharmacies, providers, nonprofits and patients themselves—a real world view of where and how the disease affects people. This information is vital to deepen our collective understanding of AKU and to drive smarter action, more effective treatments and better patient outcomes.”

AKU has no cure and is estimated to affect one person in every 250,000-500,000. For more information visit http://www.patientslikeme.com/join/aku.

About The AKU Society
The AKU Society was founded in 2003 in Liverpool by AKU sufferer Bob Gregory and his doctor, Dr. Lakshminarayan Ranganath of the Royal Liverpool and Broadgreen University Hospitals. It was the first AKU charity in the world. It is patient-led and includes patients, relatives, medical experts and friends and carers among its supporters. The society aims to locate AKU sufferers to offer them help and support, to raise awareness of AKU and to support research into its treatment. Its vision is to find a cure for AKU within the next decade. The AKU Society has established an influential multidisciplinary network, including representatives from numerous universities and hospitals, pharmaceutical companies and national AKU patient groups in Europe, the Middle East, Asia and North America. The society has also funded two research programs into AKU and the first AKU information center. Visit us at www.akusociety.org or follow us on Twitter or Facebook.

About PatientsLikeMe
PatientsLikeMe is a patient network that helps improve lives and a real-time research platform that advances medicine. Through the network, patients connect with others who have the same disease or condition and track and share their own experiences. In the process, they generate data about the real-world nature of disease that help researchers, pharmaceutical companies, regulators, providers and nonprofits develop more effective products, services and care. PatientsLikeMe has become a trusted source for real-world disease information and a clinically robust resource that has published more than 25 peer-reviewed research studies. Visit us at www.patientslikeme.com or follow us via our blog, Twitter or Facebook.