Lurie Children's Blog Search Results

• Williams Syndrome: Symptoms, Diagnosis & Support

  May is dedicated to increasing the understanding of Williams syndrome, fostering research interest for improved treatments, and further supporting patients and families.

• All About Rare Diseases and Genetic Disorders

  In the US a rare disease is defined as a health condition affecting 200,000 people or less.

• Lurie Children’s Genetic Counselors Say“ Happy Birthday, Rosalind Franklin!”

  Genetic counselors recognize how Rosalind Franklin’s discovery laid the foundation for what we know about the connection between genetics and health today.

• Advances in Genetic Testing Improve Diagnoses of Rare Conditions

  Today's genetic testing toolkit has greatly expanded. 

• Genetics Sheds Light on Cancer Risk

  A young girl was referred to Lurie Children's for surgery after her pediatrician felt a mass in her abdomen during a routine checkup. The mass was a cystic nephroma.

• Importance of Medical Foods and the Alphabet Soup of Inborn Errors of Metabolism

  For people with inborn errors of metabolism (IEMs) medical foods are a necessity, much more than a recommendation for good health. 

• What to Know About Prenatal Genetic Counseling

  When a prenatal diagnosis is made, families meet with a prenatal genetic counselor from one of our many pediatric specialty clinics.

• All Eyes on Gene Therapy

  In the past few years, exciting new therapies and clinical trials for genetic eye (ocular) conditions have emerged all over the world.

• National DNA Day - DNA Facts & History

  Learn about DNA Day and the importance of the discovery of DNA.

• New Drug to Help Children with Neurofibromatosis Type 1

  Until recently, children with NF1 had few options to relieve the pain and health problems caused by the tumors that characterize this condition.

• Genetics & New Therapies for Cystic Fibrosis

  In recent years, the Food and Drug Administration (FDA) approved a breakthrough therapy that could help about 90% of patients with cystic fibrosis.

• Spinal Muscular Atrophy (SMA): New Treatments & Newborn Screening

  Research is leading to a better understanding of the genetic basis for neuromuscular disorders, including SMA, and new approaches to treatment.

• Neurogenetics: Genes & the Nervous System

  Advances in the field of genetics have helped researchers identify specific genes and chromosome locations that are involved in many neurologic disorders.

• X-linked Adrenoleukodystrophy (X-ALD) is Added to the Newborn Screen in Illinois

  Newborn screening can change a baby’s life. It is testing that is done shortly after birth to help detect serious health conditions before obvious symptoms appear.

• Direct-to-Consumer Genetic Testing & Children

  The Genetic Counseling team explains what to consider when looking for a service and what these results could really mean for you and your family.