Endocrine Disorders

May 8, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Neurology/Nervous System Diseases, News, Ophthalmology/Eye Diseases, Regulations, Treatment

Positive Phase 2 Data With GABA-A Agonist to Treat Fragile X Syndrome

Ovid Pharmaceutics has announced their novel delta (δ)-selective…
May 5, 2020| Posted in: Diagnosis, Drug Development, Endocrine Disorders, News, Regulations, Treatment

FDA Approves New Leuprolide Acetate Formulation to Treat Central Precocious Puberty

The US Food and Drug Administration (FDA) has…
May 4, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Heart Diseases, Kidney And Urinary Diseases, Ophthalmology/Eye Diseases

CHARGE Syndrome

CHARGE syndrome is a complex genetic condition, which…
May 2, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Gastrointestinal Diseases, Heart Diseases, Kidney And Urinary Diseases, Neurology/Nervous System Diseases

22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a disorder that involves…
May 1, 2020| Posted in: Endocrine Disorders, Hematologic Disorders, Uncategorized

Beta-thalassemia

Other Names: Beta thalassemia major; Cooley's anemia; Beta thalassemia…
May 1, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Gastrointestinal Diseases

Cerebrotendinous Xanthomatosis

Overview Cerebrotendinous xanthomatosis is a fat (lipid) storage…
Apr 29, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Hematologic Disorders, Kidney And Urinary Diseases, Musculoskeletal Diseases, Neurology/Nervous System Diseases

Sickle Cell Anemia

Other Names: HbS disease; Hemoglobin S Disease; Sickling disorder…
Apr 10, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases

Fragile X Syndrome

Fragile X Syndrome is a genetic condition that…
Apr 9, 2020| Posted in: Endocrine Disorders

Cushing’s Syndrome

Cushing's syndrome is a rare endocrine disorder caused by…
Apr 5, 2020| Posted in: Cancers, Congenital And Genetic Conditions, Endocrine Disorders, Kidney And Urinary Diseases, Ophthalmology/Eye Diseases, Uncategorized

WAGR Syndrome

WAGR syndrome is a rare genetic syndrome in…

Rare Disease Clinical Trials CME Program

Learn about clinical trials and rare diseases through these brief courses that are certified for CME and CNE credit.
  • Heather Lau, MD, MS, NYU School of Medicine, New York, NY
  • Morie A Gertz, MD, Mayo Clinic, Rochester, MN
  • Timothy Craig, DO, Penn State University, Hershey, PA
  • Eric T. Wong, MD, Harvard Medical School, Boston, MA

CME Program: Fabry Disease Highlights from WORLDSymposium 2020

Ozlem Goker-Alpan, MD highlights the latest Fabry disease information from the WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with this rare disease.

WHIM Syndrome Learning Center

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood.

Endocrine Disorders

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