“I Would Do it Again in a Heartbeat”, This Sister Donated Her Kidney, Gifting Her Brother His Health

As originally reported in Edinburgh Evening News; Assed Ramae felt the depths of familial love when he received his younger sisters kidney, saving him from the decline from his stage…

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Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases
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Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases

Patients with congenital diseases often experience a range of uncomfortable symptoms. On one side of the world, a family with erythromelalgia, a painful condition which can cause redness and swelling…

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Effectiveness of Prenatal Surgery for Spina Bifida Provides More Hope for Babies with Myelomeningocele
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Effectiveness of Prenatal Surgery for Spina Bifida Provides More Hope for Babies with Myelomeningocele

By Natalie Homan from In The Cloud Copy Spina bifida is a condition that appears when a developing baby’s neural tube doesn’t close completely. The most severe form of spina…

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Stem Cell Therapy Using Patient’s Own Cells Shows Potential for Chronic Granulomatous Disease
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Stem Cell Therapy Using Patient’s Own Cells Shows Potential for Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare form of immunodeficiency. The most common form of this disease is X-linked chronic granulomatous disease (X-CGD) which is caused by a mutated CYBB gene. This…

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After Civil War Drove Her From Her Homeland, She Went on to Discover the Genes Causing Spinocerebellar Ataxia and Rett Syndrome
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After Civil War Drove Her From Her Homeland, She Went on to Discover the Genes Causing Spinocerebellar Ataxia and Rett Syndrome

As originally reported in Discover Magazine, Huda Zoghbi took an unexpected route to winning the Breakthrough Prize in Life Sciences in 2017 for her discoveries of the genes responsible for…

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Building Community Among Children with Rare Diseases: The Fighting H.A.R.D. Foundation

The Fighting HARD Foundation Rare diseases are difficult to face for a myriad of reasons. They can be financially burdensome, physically painful, and emotionally draining. Further, they can make patients…

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