Autosomal News and Research

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New article sheds light on the costs and benefits of screening for SMA

New article sheds light on the costs and benefits of screening for SMA

NAF to hold third annual Ataxia Investigators Meeting in Rosemont

NAF to hold third annual Ataxia Investigators Meeting in Rosemont

Scientists discover genetic cause of Quebec Platelet Disorder

Scientists discover genetic cause of Quebec Platelet Disorder

MHAUS introduces new MH Mock Drill Training Kit to better prepare for MH emergencies

MHAUS introduces new MH Mock Drill Training Kit to better prepare for MH emergencies

C1-INH replacement therapy effective for treating acute swelling attacks in HAE

C1-INH replacement therapy effective for treating acute swelling attacks in HAE

Patients with HAE experience prodromal symptoms before acute HAE attacks: Survey

Patients with HAE experience prodromal symptoms before acute HAE attacks: Survey

Colonoscopy screening recommended for people with family history of colon cancer

Colonoscopy screening recommended for people with family history of colon cancer

CAMH signs licensing agreement with US-based Athena Diagnostics to market new genetic test

CAMH signs licensing agreement with US-based Athena Diagnostics to market new genetic test

Spinal muscular atrophy screening, not cost effective

Spinal muscular atrophy screening, not cost effective

UCSB research: Rapamycin drug, a potential treatment for ADPKD

UCSB research: Rapamycin drug, a potential treatment for ADPKD

CLSI’s document provides revised guidelines for screening cystic fibrosis

CLSI’s document provides revised guidelines for screening cystic fibrosis

Physicians need to utilize best practices to treat HAE patients in emergency settings

Physicians need to utilize best practices to treat HAE patients in emergency settings

FDA approves Berinert for treating HAE in adults and adolescents

FDA approves Berinert for treating HAE in adults and adolescents

Diagnosing patients with syndrome similar to neurofibromatosis type 1 may be difficult

Diagnosing patients with syndrome similar to neurofibromatosis type 1 may be difficult

C1-INH concentrate, an effective therapy to treat acute swelling attacks for HAE

C1-INH concentrate, an effective therapy to treat acute swelling attacks for HAE

New molecular pathway for preventing potassium from being excreted normally through kidney identified

New molecular pathway for preventing potassium from being excreted normally through kidney identified

$3.9 million Challenge grant for Thomas Jefferson researchers

$3.9 million Challenge grant for Thomas Jefferson researchers

Brain disorder that causes early dementia is highly hereditary: Study

Brain disorder that causes early dementia is highly hereditary: Study

DKC establishes link between genetic mutation affecting telomerase function and human disease

DKC establishes link between genetic mutation affecting telomerase function and human disease

FDA grants marketing approval for CSL Behring's Berinert C1-Esterase Inhibitor

FDA grants marketing approval for CSL Behring's Berinert C1-Esterase Inhibitor