Genetic Counselors

Featured Genetic Counselors Articles on HCP

PT Combination of Activities and Techniques For Patients With SMA

by Emily Jones | Jun 28, 2022

There are many different modalities and activities that have been successful in progressing Michael, our patient with SMA, towards reaching his goals of less pain during activities as well as increased independence. Over the past four years, we have attempted many...

Spinraza-Zolgensma Combination Well-tolerated in Children with SMA Type 1, Study Shows

by Victorian Adan | Aug 27, 2020

Combining Spinraza (nusinersen) with the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) is generally well-tolerated and sustains motor improvements in children with spinal muscular atrophy (SMA) type 1, according to a case series study. The data, which...

Late-Breaking SMA Treatment Insights You May Have Missed in February

by Nisha Cooch, PhD | Mar 9, 2020

February wrapped up with a surge of data on SMA, including novel investigations into how combinatorial therapies may provide new advantages to those with the disease. More information on how nusinersen impacts patients has also become available, as have new findings...

SMA HCP News December Round-up: Spinal Cord Hypoxia, Scoliosis Surgery & More

by Nisha Cooch, PhD | Dec 9, 2019

Regulators continue to review SMA drugs and consider policies related to newborn screening while new data emerge related to the mechanisms underlying the disease, as well as those concerning management and treatment. Here is a roundup of some of the latest news and...

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Evidence Points to Benefits of Newborn Screening for SMA, German Researchers Say
Researchers in Germany have found that newborn screening for spinal muscular atrophy (SMA) would likely be beneficial, based on evidence […]
Study Addresses Dilemmas Regarding Newborn Screening and SMA Treatment
As newborn screening for spinal muscular atrophy (SMA) becomes more common, ethical dilemmas will arise about the best treatment strategy […]
Investigators Discover Potential New SMA Genetic Modifier, Case Report Shows
Researchers have discovered a potential new genetic modifier that can influence the course and severity of spinal muscular atrophy (SMA), […]
New Screening Kit Quickly and Thoroughly Analyzes SMN1, SMN2 Genes in Lab, Asuragen Says
Asuragen has launched the AmplideX PCR/CE SMN1/2 Plus Kit, which according to the company provides the most comprehensive analysis of genes […]

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Abnormal RNA Editing Linked to Motor Neuron Death in SMA
SMA is a neurodegenerative disease characterized by widespread RNA dysfunction, leading to the abnormal production of various […]
SMA Research News: Ocular Motor Neurons Adapt to SMN Protein Loss in Protective Ways
Click here to read about a study in a mouse model of spinal muscular atrophy (SMA) that traces how certain nerve cells, called ocular motor […]
Two SMA-linked Mutations Seen to Help Identify Carriers, Allowing Better Family Counseling
Two mutations may help to improve the identification of spinal muscular atrophy (SMA) carriers – people who do not develop the disease […]
New Way of Targeting RNA Holds Promise
Click here to read about a study reporting a new way of restoring levels of survival motor neuron (SMN) — the protein missing in spinal […]