genetic diseases Archives | ��ϳԹ��Դ

Dehydration’s role in learning and memory

Samuel Diamond — Mon, 18 May 2026 11:30:10 +0000

How do we learn to remember? At the most fundamental level, it’s all about chemicals and electricity. Beyond their roles in diet and nutrition, calcium and magnesium work as ions, or charged particles, in the brain. Magnesium can block a channel found within brain receptors known as NMDARs. When the blockade lifts, calcium can pass...

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Brescia Foundation supports ILFS-1 research at CSHL

Gina Dipietro — Tue, 10 Feb 2026 12:30:58 +0000

When Patricia and Jason Brescia welcomed their first child, Jason Michael Brescia Jr., in December 2022, they could not have imagined how quickly joy would turn to heartbreak. Born prematurely at 27 weeks, Jason Michael Jr. spent 54 days in intensive care before being diagnosed with Infantile Liver Failure Syndrome type 1 (ILFS-1), a rare...

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The world’s first personalized gene therapy

Samuel Diamond — Wed, 03 Dec 2025 12:30:58 +0000

How does science make life better? Here’s one example spanning eons. There’s an adaptive immune system called CRISPR that has existed in bacteria for billions of years. Thanks to fundamental biology research, it is now being used to discover and develop powerful new forms of medicine. Just this year, the first personalized CRISPR gene-editing therapy...

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Enter the CRISPR frontier

Communications Department — Mon, 08 Sep 2025 11:30:33 +0000

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The CRISPR revolution continues

Nick Wurm — Tue, 12 Aug 2025 18:13:47 +0000

CRISPR-Cas9 gene editing revolutionized biological and biomedical research virtually overnight. The versatile tool has been used to improve crop yields and cure previously uncurable conditions like sickle cell anemia. In May 2025, the Nobel Prize-winning technology brought about another major biomedical breakthrough, as Kiran Musunuru and Rebecca Ahrens-Nicklas introduced the first personalized CRISPR gene editing...

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NF1: Scientific insight and systemic change

Caroline Cosgrove — Mon, 14 Jul 2025 11:30:55 +0000

Neurofibromatosis type 1 (NF1) is a rare genetic condition that affects approximately 100,000 Americans. Children diagnosed with the disorder often have motor delays and learning disabilities. Many are also diagnosed with autism or brain tumors. While significant progress has been made in understanding the biology of NF1 in animal models, translating these findings into clinical...

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Vitamin K supplement slows prostate cancer in mice

Jen A. Miller — Thu, 24 Oct 2024 18:00:34 +0000

Science, shows that menadione significantly slows prostate cancer growth in mice and in human-derived cancer cells, as seen here." data-description="" />Prostate cancer is a quiet killer. In most men, it’s treatable. However, in some cases, it resists all known therapies and turns extremely deadly. A new discovery at ��ϳԹ��Դ (CSHL) points to a potentially groundbreaking solution. CSHL Professor Lloyd Trotman’s lab has found that the pro-oxidant supplement menadione slows prostate cancer progression...

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Plants have a backup plan

Nick Wurm — Thu, 03 Oct 2024 11:30:08 +0000

Arabidopsis, seen here, have two options to ensure accurate chromosome division—a molecule called DDM1 and a process known as RNAi. If Arabidopsis loses one of these, it’s fine. But if it loses both, it’s in trouble." data-description="" />Tending a garden is hard work. Imagine it from the plants’ perspective. Each relies on fine-tuned genetic processes to pass down accurate copies of chromosomes to future generations. These processes sometimes involve billions of moving parts. Even the tiniest disruption can have a cascading effect. So, for plants like Arabidopsis thaliana, it’s good to have...

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At the Lab Episode 26: The golden grail of genomics

Communications Department — Tue, 01 Oct 2024 11:30:21 +0000

First, there was the Human Genome Project. Then, there was ENCODE. CSHL Professor Thomas Gingeras recently spoke with Scientific American about the legacy of ENCODE. This week At the Lab, he talks about a new follow-up project called EN-TEx and its promise for the coming era of personalized medicine. Thank you for joining us for...

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At the Lab Episode 23: Cured with CRISPR

Communications Department — Tue, 10 Sep 2024 11:30:08 +0000

In 2019, Victoria Gray became the first person to be cured of sickle cell disease thanks to CRISPR gene-editing technology. Five years later, a diverse audience of Long Island locals came together At the Lab to hear Gray speak with two ��ϳԹ��Դ DNA Learning Center alumni and a panel of experts, including...

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The promise of genetics to cure disease

Communications Department — Thu, 05 Sep 2024 11:30:19 +0000

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CSHL to host first person cured of sickle cell

Communications Department — Fri, 28 Jun 2024 11:30:50 +0000

Sickle cell disease is a painful and debilitating genetic condition. It affects over 100,000 people in the U.S. and more than 20 million globally—most are Black or of African origin. Until recently, sickle cell was considered a lifelong disease. Then, in 2019, Victoria Gray became the first patient cured using CRISPR gene-editing technology. On July...

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New hope in the fight against neurofibromatosis

Nick Wurm — Mon, 18 Mar 2024 11:30:31 +0000

It’s the most common single-gene neurological disorder in the world. It is typically diagnosed in children. It’s often accompanied by learning challenges. It can lead to tumors in the brain, spinal cord, and throughout the body. It’s called neurofibromatosis type 1 (NF1). One out of every 3,000 people is born with the disease. And there...

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Why some RNA drugs work better than others

Jennifer Michalowski — Wed, 06 Mar 2024 12:30:20 +0000

Spinal muscular atrophy, or SMA, is the leading genetic cause of infant death. Less than a decade ago, ��ϳԹ��Դ (CSHL) Professor Adrian Krainer showed this brutal disease can be treated by tweaking a process called RNA splicing. This breakthrough resulted in Spinraza, the first effective treatment for SMA. It also opened a...

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Genome analysis just got personal

Luis Sandoval — Thu, 30 Mar 2023 15:00:46 +0000

Encyclopedia of DNA Elements (ENCODE) and the Genotype-Tissue Expressions (GTEx) project. Image: © ktsdesign – stock.adobe.com" data-description="" />Life on Earth comes in a beautiful assortment of different shapes, sizes, and colors, thanks to genetic mutations. Some mutations are beneficial, some are perilous, and some don’t do much of anything. Every person has around 4.5 million genetic variations. But are those variants helpful or hurtful? Geneticists have been trying to find the answer...

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Cancer lab makes surprise discoveries in heart disease

Margaret Osborne — Wed, 30 Nov 2022 12:30:45 +0000

Sometimes science can lead to unexpected discoveries in unexpected places. That’s what ��ϳԹ��Դ (CSHL) Professor David Spector experienced this year. For nearly four decades, Spector has been researching cancer—the United States’ second-leading cause of death. But this year, he found himself studying the first—heart disease. Spector’s research at CSHL focuses on how...

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Exposing the evolutionary weak spots of the human genome

Nick Wurm — Thu, 22 Sep 2022 11:30:38 +0000

Mutations can be good and bad. Sometimes they help an organism adapt and survive. Other times they are so harmful that an organism can’t survive or reproduce. ��ϳԹ��Դ (CSHL) Professor Adam Siepel’s team has created a computer program that tracks the history of harmful mutations in the human genome throughout evolution. They...

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The genetic landscape of autism

Communications Department — Tue, 16 Aug 2022 12:00:20 +0000

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After 100 years of research, autism remains a puzzle

Communications Department — Thu, 04 Aug 2022 11:30:36 +0000

« Previous Story Next Story » Michael Wigler, a professor at ��ϳԹ��Դ (CSHL) was surprised. A molecular biologist and geneticist, with a background in mathematics and medicine, he devoted two decades of his research career to studying the causes of autism. In the early 2000s, Wigler and his team revealed that a...

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A new treatment approach for cystic fibrosis

Luis Sandoval — Thu, 14 Jul 2022 20:00:17 +0000

Antisense oligonucleotides, or ASOs, are molecules that can be used to control protein levels in cells. ��ϳԹ��Դ Professor Adrian Krainer leveraged ASO technology to develop the first FDA-approved treatment for spinal muscular atrophy called Spinraza®. The drug has helped over 11,000 patients make more of a protein that certain neurons in the...

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genetic diseases Archives | ���ϳԹ���Դ