June 12 has been designated as Lamb-Shaffer Syndrome Awareness Day, a rare genetic disorder caused by changes in the SOX5 gene. Because the SOX5 gene is located on the 12th chromosome, the symbolic date of 12/6 was chosen. Lamb-Shaffer Syndrome is characterized by developmental delays, speech difficulties, ...

In June, we observe awareness days dedicated to the following diagnoses: myasthenia gravis, Loeys-Dietz syndrome, Batten disease, motor neuron diseases, Dravet syndrome, phenylketonuria, scleroderma, and arthrogryposis. June presents an opportunity to collectively highlight the importance of rare diagnoses and to show support for individuals who face these conditions every day. Through education, awareness, and a sense of community, we can contribute to improving the quality of life for those affected and their families.

June is Myasthenia Gravis Awareness Month – a time to raise awareness of this rare but serious disease that affects muscle strength and daily functioning. Specifically, on June 2nd, we observe European Myasthenia Gravis Awareness Day to inform the public, support those affected, and promote early recognition of symptoms.

This day is dedicated to raising awareness, providing support to those affected, and encouraging research for a better understanding and treatment of NF. Neurofibromatoses are a group of rare autosomal dominant inherited disorders that cause the development of tumors in the nervous system, and they also…

World Hereditary Angioedema Awareness Day (HAE Day) is observed on May 16th to raise awareness about this rare, hereditary disease. The goal is to promote timely diagnosis, better treatment, and support for those affected. Hereditary angioedema (HAE) is a rare genetic disorder that causes recurring episodes of swelling (angioedema) ...

Today, May 10th, we observe World Lupus Awareness Day, a day dedicated to raising awareness about lupus, an autoimmune disease that affects millions of people around the world. Lupus is a chronic autoimmune disease in which the immune system attacks the body’s own tissues and organs, causing inflammation and damage to the skin, joints, kidneys, heart, lungs, and brain.

May is dedicated to raising awareness about Ehlers-Danlos Syndromes (EDS), a group of rare genetic connective tissue disorders. The goal is to inform the public, support those affected, encourage understanding, and highlight the importance of early diagnosis and appropriate medical care. Ehlers-Danlos Syndrome encompasses a group of inherited disorders that affect the connective tissues,

In May, we observe days dedicated to the following diagnoses: Moyamoya syndrome, osteogenesis imperfecta, Ehlers-Danlos syndrome, lupus, Cornelia de Lange syndrome, mucopolysaccharidoses, tuberous sclerosis, hereditary angioedema, and neurofibromatosis. May is an opportunity for all of us to raise awareness of these rare diagnoses and to show support for those who live with them...

World Hemophilia Day is observed on April 17 in honor of the birthday of Frank Schnabel, a person with hemophilia and the founder of the World Federation of Hemophilia. Hemophilia is a disorder characterized by a reduced ability of the blood to clot. It is most commonly inherited, with the gene typically passed from mother to child.