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E-books


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AMN/ALD: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)
Adrenomyeloneuropathy (AMN) is a rare inherited metabolic disorder that affects approximately 30,000 people worldwide. Adrenomyeloneuropathy (AMN) is also known as X-ALD, Addison Disease with Cerebral Sclerosis, ALD, AMN, Bronze Schilder Disease, Melanodermic Leukodystrophy, Schilder Disease, Siemerling-Creutzfeldt Disease, SCD, Sudanophilic Leukodystrophy, XALD, X ALD, X-linked adrenoleukodystrophy, X linked adrenoleukodystrophy.


By: This e-book was compiled by the RG Scientific Analyst Team, which consists of highschool and undergrad students from across Canada: Megan Chan, Roberto Fedrigo, Jessica Fung, Dororthy Qian, Chuheng...

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Antisynthetase Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)
Antisynthetase syndrome is a rare chronic autoimmune muscle disorder. Antisynthetase is also known as Anti-Synthetase Syndrome, Anti JO-1 Syndrome, Myositis Synthetase Syndrome, JO-1 Antisynthetase Polymyositis. There are 162 members in Antisynthetase community. In the past year we have created podcasts and ebooks on Antisynthetase syndrome with the collaboration of clinicians, community members and Rare Genomics Institute.


By: This e-book was compiled by the RG Scientific Analyst Team, which consists of highschool and undergrad students from across Canada: Riling Chen, Jessica Fung, Dororthy Qian-Led by Henry He and Supe...

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Chromosome 4q Deletion Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)
Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. The severity of the phenotypic effect of the deletion depends on the size and the location of the deletion on chromosome 4q. This disease is prevalent in around 1 in every 100,000 people. The ebook is a good place to look for some information about Chromosome 4q Deletion.


By: This e-book was compiled by the RG Scientific Analyst Team, which consists of highschool and undergrad students from across Canada: Megan Chan, Roberto Fedrigo, Jessica Fung, Dororthy Qian, Chuheng...

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Crigler-Najjar Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)
Crigler-Najjar Syndrome (CNS) is an inherited disorder that is characterized by high levels of bilirubin in the blood, a toxic waste product when present for too long in the body. The estimated prevalence of CNS is less than 1 in 1-million with less than one thousand cases reported. For more brief information about CNS, check out the Crigler-Najjar ebook.


By: This e-book was compiled by the RG Scientific Analyst Team, which consists of highschool and undergrad students from across Canada: Megan Chan, Roberto Fedrigo, Jessica Fung, Dororthy Qian, Chuheng...

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LGLL Diagnoses, Therapies and Hope (Rare Genomics Institute & RareShare)
Large granular lymphocyte leukemia (LGLL) is a rare genetic disorder affecting the immune system. LGLL is characterized by enlarged lymphocytes and a decline in red blood cells and neutrophils. For more information on LGLL, see the LGLL ebook.


By: This e-book was compiled by the RG Scientific Analyst Team, which consists of highschool and undergrad students from across Canada: Riling Chen, Jessica Fung, Dororthy Qian, Vicky Xu and Deifilia T...

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Robert Stone’s Story – Genomics Used for A Diagnosis After 14 Years
After 14 years with no diagnosis, last year we pursued gene sequencing through Rare Genomics Institute and finally found an answer


By: Rare Genomics Institute