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Genetic Diseases

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March 10, 2025
4 min read
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Q&A: ‘We are not as good as we think’ at identifying genetic conditions in babies

Q&A: ‘We are not as good as we think’ at identifying genetic conditions in babies

Researchers at the University of Washington and Seattle Children's found that using exclusion-based criteria to refer infants for genetic testing in the NICU led to more diagnoses and at earlier ages.

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September 18, 2024
1 min read
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Mendelian disease rare in adults with kidney stones, but nephrolithiasis risk may be high

Mendelian disease rare in adults with kidney stones, but nephrolithiasis risk may be high

Mendelian disease is uncommon in adults with kidney stones, but variants leading to nephrolithiasis may be higher for these patients, according to study results.

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January 05, 2023
2 min read
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Study: Renal genetics clinic provides diagnostic, patient management benefits

Study: Renal genetics clinic provides diagnostic, patient management benefits

Renal genetics clinics can significantly benefit patients looking for a diagnosis of genetic kidney disease or assistance with managing the disease, according to data published in Kidney Medicine.

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July 30, 2021
1 min read
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American Kidney Fund releases guide for improving diagnoses of kidney disease

American Kidney Fund releases guide for improving diagnoses of kidney disease

The American Kidney Fund has released a guide on improving the accuracy and timeliness of kidney disease diagnoses when the causes of disease are not evident, according to a press release from the organization.

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October 30, 2020
4 min read
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Unraveling obesity-related genes may hold clue to RA risk, role of inflammation

Unraveling obesity-related genes may hold clue to RA risk, role of inflammation

America’s weight problem is well known to rheumatologists, with a mounting body of evidence depicting the negative impact of obesity on disease outcomes for patients with rheumatic and autoimmune diseases.

News
October 09, 2020
11 min watch
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VIDEO: ‘Phenomenal’ session on genomics of personalized medicine reviews range of diseases

VIDEO: ‘Phenomenal’ session on genomics of personalized medicine reviews range of diseases

In this video from the Annual Meeting of the American Neurological Association, Conrad "Chris" Weihl, MD, PhD, discusses the plenary session he co-chaired on the genomics of personalized medicine.