LND topic: genetic-disorders page 1

genetic disorders

Newborn Screenings Get a Boost: Rare Disorders Join the List

December 16, 2025

In a move to catch serious health issues early, the U. S. has added two rare genetic disorders to its newborn screening list. Duchenne Muscular Dystrophy (DMD) and Metachromatic Leukodystrophy (MLD) are now part of the recommended screenings for newborns. This change means babies can be tested at b

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Living in the Shadows: The Silent Struggle of EPP and XLP Patients

October 21, 2025

EPP and XLP are rare conditions that make life hard for those who have them. These genetic disorders cause a toxic buildup in the body. This leads to pain when exposed to sunlight. People with these conditions often face a tough life. Their daily activities are greatly affected. Yet, there are few t

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Understanding Cancer Risks in Cardiofaciocutaneous Syndrome

April 8, 2025

Cardiofaciocutaneous syndrome is a rare genetic disorder. It is part of a group of conditions known as RASopathies. These conditions are caused by mutations in genes that control cell growth and division. People with CFC face a higher chance of developing cancer. This is due to the genetic change

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The Changing Faces of Autism in Angelman Syndrome

March 21, 2025

Angelman syndrome is a rare genetic condition. It affects the brain and nerves. Many kids with Angelman syndrome also have autism. But how autism shows up in these kids can change over time. That's what a recent study wanted to find out. The study looked at 107 kids with Angelman syndrome. They wer

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Understanding the Heavy Toll of Homocystinuria in the U. S.

January 26, 2025

Let's chat about a little-known genetic disorder called classical homocystinuria (HCU). It's a rare condition that messes with how your body handles two key substances, homocysteine and methionine. These usually help build proteins, but in people with HCU, their levels go sky-high. Now, you might th

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Parents' Journey: Living With Kids Who Have Genetic Brain Conditions

December 28, 2024

Ever wondered what it's like for parents whose kids have rare genetic brain conditions? Let's dive into their world. Imagine having a child with Dravet syndrome or Doose syndrome. These are types of developmental and epileptic encephalopathies (DEE), which affect the brain in unique ways. Parents f

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MAKING NEWBORN SCREENING MORE ACCESSIBLE WITH TECH

November 23, 2024

Wouldn't it be great if all genetic disorders could be detected early, especially the ones that can be treated? Yet, many aren't tested for because it's expensive and needs fancy equipment. Enter SCAN: a new, affordable way to check for common aneuploidies using nanopore sequencing. SCAN first ampli