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CSHL Stories and Media archive for Tag: genetic diseases

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image of CSHL employees with Pennys Flight Foundation individuals at Cold Spring Harbor Laboratory

New hope in the fight against neurofibromatosis

3/18/2024

A partnership between CSHL and the Penny’s Flight Foundation aims to find a cure for NF1, the world’s most common single-gene neurological disorder. Read the story »

Why some RNA drugs work better than others

3/6/2024

CSHL’s Justin Kinney and Spinraza inventor Adrian Krainer tested the newly approved SMA treatment, risdiplam, and another RNA therapeutic, branaplam. Read the story »

Genome analysis just got personal

3/30/2023

A new algorithm created by CSHL researchers can help predict the health effects of millions of genetic variants found within a single person’s genome. Read the story »

Image of Spector and two Postdoctoral Fellows in his lab

Cancer lab makes surprise discoveries in heart disease

11/30/2022

Two separate studies from the Spector lab at CSHL suggest that certain genes can lead to cardiac problems. Read the story »

Exposing the evolutionary weak spots of the human genome

9/22/2022

Researchers built a computer program that tracks harmful mutations throughout human evolution. It may help uncover the origins of genetic diseases. Read the story »

The genetic landscape of autism

8/16/2022

CSHL Professor Michael Wigler discusses 20 years of research to paint a complete picture of the genetic causes of autism. Watch the video »

Image of doctor holding magnifying glass over child's toys

After 100 years of research, autism remains a puzzle

8/4/2022

One geneticist is determined to piece together the causes of autism. Read the story »

A new treatment approach for cystic fibrosis

7/14/2022

Molecules called antisense oligonucleotides may help lung cells make a protein missing in people with cystic fibrosis. Read the story »

Editing RNA to fix protein problems in cystic fibrosis

1/27/2022

CSHL researchers found a new way to address a previously untreatable class of mutations in the cystic fibrosis gene. Read the story »

3D illustration of DNA molecules with binary code

Solving genetic disease puzzles with quantitative biology

6/17/2021

CSHL quantitative biologist Jesse Gillis teams up with an immunology specialist at Northwell Health to analyze a complex genetic disorder. Read the story »

Reversing a genetic cause of poor stress responses in mice

4/7/2021

CSHL researchers discovered how a gene prevents mice from coping with stressful situations. They found several ways to reverse its effects. Read the story »

Illustration of a couple dozen different breeds of dogs

Dog adaptations are like brain adaptations

5/6/2020

To understand autism, CSHL Professor Michael Wigler thinks about how biological systems adapt over generations. Read the story »

The status of autism research—in verse

4/29/2020

CSHL Professor Michael Wigler drafted a poem explaining what we know and what we need to learn about autism. Read the story »

image of abnormal behavior of PV neurons in mouse brain

Abnormal neuron activity manifests as parental neglect

1/8/2020

Without the gene Mecp2, mice can’t learn to care for crying pups. Knowing when the brain is able to learn may help treat developmental disorders. Read the story »

black and white graphic of the outline of two hands

Genetic Counseling: Clinical Practice and Ethical Considerations from CSHL Press

12/13/2019

This collection captures the current state of genetic counseling and examines the changing roles of genetic counselors in the genomic age. Read the story »

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