Rare Disease Insights
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Botulism – 110-200 Cases Per Year in the United States
Dec 21
Achondroplasia (ACH) – 1 in 20,000 to 30,000 Births
Dec 14
Spina Bifida (SB) – 1,500 and 2,000 Babies Per 4 Million Births
Dec 7
Acromegaly – 50 to 70 People Per Million
Nov 30
Pfeiffer Syndrome – 1/100,000 People
Nov 23
Hutchinson-Gilford Progeria Syndrome (Progeria/HGPS) – 150-250 Cases Worldwide
Nov 16
Pediatric Crohn’s Disease – 0.7% of the US Population
Nov 9
Cornelia de Lange Syndrome (CdLS) – 1 in 10,000 to 30,000 Live Births
Nov 2
Amyotrophic Lateral Sclerosis (ALS) – 4-6 Cases per 100,000 People
Oct 26
Paget’s Disease (of the Bone) – 1-2% of the General U.S. Population Affected
Oct 19
Glioblastoma (GBM) – 3/100,000 People Per Year Affected
Oct 12
Mucopolysaccharidosis Type I (MPS 1) – 1 in 25,000 Births
Oct 5
Hemophilia A – 1 in 5,000 Male Births Worldwide
Sep 29
Vogt-Koyanagi-Harada Disease – Fewer Than 50,000 People Affected in the U.S.
Sep 21
Congenital Insensitivity to Pain (CIP) – 1 in a Million People
Sep 14
Lysosomal Storage Disorders (LSDs) – 1/5,000 Live Births per Year
Sep 7
Usher Syndrome – Three to Ten in 100,000 People Worldwide
Aug 31
Prader-Willi Syndrome (PWS) – 350,000-400,000 Individuals Affected Worldwide
Aug 24
No Blog Post – 08/17
Aug 20
Epilepsy with Myoclonic-Atonic Seizures (EMAtS) – 1–2% of Epilepsy Cases
Aug 11
Glycogen Storage Disease Type I (GSDI) – 1 in 100,000 Births
Aug 3
Fragile X Syndrome – 1 in 4,000 Males and 1 in 8,000 Females Affected
Jul 27
Evans Syndrome – Less Than 5,000 People Affected
Jul 20
Von Hippel-Lindau Disease (VHL) – 1/31,000 People Affected
Jul 12
Mesothelioma – 0.3% of All Cancer Diagnoses in the U.S.
Jun 29
Oculocutaneous Albinism – 1/20,000 People Worldwide
Jun 22
Angelman Syndrome – 1 in 12,000-20,000 People Affected
Jun 8
Ehlers Danlos Syndrome – 1 in 5,000 Individuals Affected Worldwide
Jun 1
Buerger’s Disease – 12.6-20/100,000 People Affected
May 26
Turner Syndrome – 0.05-0.04% Females Worldwide
May 18
Neurofibromatosis 1 (NF1) – 1/3,000 Births
May 4
Phenylketonuria (PKU) – 1/19,000 People
Apr 27
Dravet Syndrome (DS) – 0.0064% of the People in the United States
Apr 13
Gaucher Disease (GD) – 1/100,000 People Affected
Apr 6
Refractory Celiac Disease (RCD) – 20,000 People in the U.S. Affected
Mar 29
Fibrodysplasia Ossificans Progressiva (FOP) – 1/1,000,000 People Affected
Mar 23
Migraines – Affecting… Me!
Mar 19
Cystic Fibrosis (CF) – 40,000 Americans Affected
Feb 27
Huntington’s Disease (HD) – 30,000 People in the U.S. Affected
Feb 23
Cri du Chat Syndrome (CdCS) – 1/15,000 to 1/50,000 Births Per Year
Feb 16
Duchenne Muscular Dystrophy (DMD) – 1 Per Every 5,000 Male Births
Feb 9
Tay-Sachs Disease (TSD) – 1 in Every 320,000 Babies Born in the U.S.
Feb 2
Paget’s Disease of the Breast – 1-4% of Women with Breast Cancer
Jan 24
Sickle Cell Disease (SCD) – 1 in 365 African American Babies per Year
Jan 19
Atypical Hemolytic Uremic Syndrome (aHUS) – 2 per every 1 million people
Jan 12
Fabry Disease – 1/40,000 Males
Jan 4
X-Linked Lymphoproliferative Syndrome (XLP) – 1 Out of Every 1 Million Boys
Dec 27
Krabbe Disease/Globoid Cell Leukodystrophy – 1 in 250,000 Americans
Dec 22
FPIES – 0.51% of U.S. Children Affected
Dec 13
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