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Bloom syndrome has no specific treatment; however, avoiding sun exposure and using sunscreens can help prevent some of the cutaneous changes associated with photo-sensitivity. Efforts to minimize exposure to other known environmental mutagens are also advisable in multiple forms.
Howard Bloom [1] Publicist and writer American Olaf Bodden [8] Professional soccer player German Jennifer Brea [9] Documentary filmmaker and activist American Ricky Carmichael [10] Motocross racer American Cher [1] [11] Recording artist, actress, director, and record producer American Roger Cicero [12] Jazz and pop musician German Pema ...
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
Kylie Allen-Kulyk, like the famous singer, has been diagnosed with the rare autoimmune disease that causes progressive muscle rigidity and spasms. Edinboro woman with stiff person syndrome now in ...
NBS is caused by a mutation in the NBS1 gene, located at human chromosome 8q21. [9] [10] The disease is inherited in an autosomal recessive manner. [2]This means the defective gene responsible for the disorder is located on an autosome (chromosome 8 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Progeroid syndromes (PS) are a group of rare genetic disorders that mimic physiological aging, making affected individuals appear to be older than they are. [1] [2] The term progeroid syndrome does not necessarily imply progeria (Hutchinson–Gilford progeria syndrome), which is a specific type of progeroid syndrome.
Bloom was elected a Fellow of the Royal Society (FRS) in 2013.His nomination reads: Bloom played a seminal role in establishing the biology and pathophysiology of the intrinsic endocrine system of the gastrointestinal tract, an area which he pioneered and which is now a major focus of basic and applied laboratories worldwide.