News & Media
Browse the below articles, videos, and podcasts to learn more about the Penn Neurogenetics Therapy Center and the work of our faculty and staff.
New Poster: Disparities in Genetic Testing for Neurological Disorders
A genetic counselor with the Penn Neurogenetics Therapy Center, Aaron Baldwin, presented on his team's research “Disparities in Genetic Testing for Neurological Disorders” accepted to the Penn Hospital Health Equity Poster Session in the category of “Top Clinical Research, EBP, QI or New Knowledge” as part of the Penn Medicine Annual Health Equity Week conference. Findings from the study identified Black patients as being less than half as likely to be evaluated within the Neurogenetics clinic at Penn Medicine. Importantly, among all patients who underwent evaluation, there were no disparities in the likelihood of completing genetic testing, nor in the likelihood of a diagnostic result (after adjusting for age). Check it out!
April 14, 2025
Since starting the Adult White Matter Disorders Neurogenetics Clinic at Penn in 2018, Dr. Jenn Orthmann-Murphy and the genetic counseling team of Penn Neurology Neurogenetics, (including Aaron Baldwin and Tanya Bardakjian) identified an increasing number of adults diagnosed with pathogenic ABCD1 variants, at risk for or already presenting with symptoms of adrenal insufficiency, adrenomyeloneuropathy or cerebral adrenoleukodystrophy. They realized that there was no clear guidance for adult neurologists to diagnose and longitudinally manage this population and so they convened a group of experts from around the world to provide clear guidance based on the literature and their combined experience.
October 14, 2024 | Neurology Genetics
We are excited to share that our colleagues’ case report of late-onset Friedreich’s ataxia has been selected as the Neurology Resident & Fellow Section Clinical Reasoning Highlight of the Year (2024)!
Friedreich’s ataxia is the most common cause of hereditary ataxia, but typically presents in adolescence. Features can be different when presenting in later ages, and specialized genetic testing for adults may help to avoid diagnostic delays. Genetic test results may also inform medical management options, as there is now an FDA-approved treatment for adults with this neurogenetic condition. Genetic testing should be considered even without family history given the condition's autosomal recessive inheritance.
Award Info: Neurology 2024 Highlights of the Resident & Fellow Section
SKYCLARYS Info: SKYCLARYS® (omaveloxolone) For Healthcare Professionals
October 2, 2024 | Neurology
Publication: Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy featuring PNTC faculty and genetic counselors
With advances in precision medicine for neuropathy, genetic testing is now an important component of care. Historically, the neuropathy evaluation pathway included screening for acquired causes, followed by genetic testing for several of the most common neuropathy-associated genes in those with suggestive family history or young age of symptom onset. In a recently published study, several PNTC members contributed to an analysis of genetic testing yield and clinical outcomes among adults with neuropathy who underwent multigene panel testing. The authors conclude that 8.4% of neuropathy gene panels resulted in a genetic diagnosis, approximately 70% of patients had clinically actionable genetic results, and nearly a third of these findings would have been missed following historical neuropathy testing guidelines. These results demonstrate the need for broader offering of genetic testing for patients with neuropathy. Click here to read more in their recent publication.
August 14, 2024 | JPNS
Patients who have uncertain results on genetic testing may not get access to appropriate treatment/management, clinical trials or information on family planning options. The goal of our variant resolution clinic is to help more patients with inherited neuromuscular disorders find a genetic diagnosis. Click here to see the flyer.
July 17, 2024
As we work to advance precision medicine, we must also prepare our clinical infrastructure to support these efforts. Check out a recent article from several PNTC members that dives into this topic in the context of ALS therapeutics.
May 20, 2024 | Neurology Clinical Practice
Parkinson’s disease (PD) is known to be variable between individuals, and one of the goals of PD genetic research is to assess whether any of the variability in symptoms/progression can be attributed to variation in certain genes, such as GBA1 and/or LRRK2. Since 2018, the team at Penn’s Parkinson’s Disease and Movement Disorders has been offering research enrollment to every patient with PD, with 82% of the clinic choosing to enroll in the research. Recently, they reported on the feasibility for near-clinic-wide enrollment and the PD features seen in the cohort between GBA1/LRRK2 status. Click here to read more in their recent publication.
May 3, 2024 | npj Parkinson's Disease
Diagnostic Yield of Genetic Testing in Adults with Epilepsy featuring Juliette Copeland
In April 2024, PNTC Clinical Research Coordinator Juliette Copeland presented her research on the genetics of epilepsy at the American Academy of Neurology 2024 Annual Meeting in Denver. Her poster, titled “Diagnostic Yield of Genetic Testing in Adults with Epilepsy,” was shared with neurologists and other health professionals in the field. She conducted her research under the supervision of Dr. Colin Ellis.
April 13th-18th, 2024 | AAN Annual Meeting
PNTC genetic counselor Aaron Baldwin was invited to speak with Dr. Stacey Clardy in this week’s Neurology Podcast, exploring the background and future implications of their study “Disparities in genetic testing for neurologic disorders” which was published in Neurology this month (below). Click here to listen to the discussion.
March 11th, 2024 | Neurology
Genetic Counselor Aaron Baldwin, Dr Colin Ellis, and colleagues publish their research on racial disparities highlighting the importance of equitable access to clinical neurogenetic services. Click here to read the full article.
March 6th, 2024 | Neurology
Several of our genetic counselors and neurologists recently published a case series illustrating the crucial role of broad genetic testing, such as exome and genome sequencing, in the management of adults with neuromuscular disorders. Read more about how broad genetic testing impacted 5 families seen at Penn Neurology here.
February 2nd, 2024 | Biology
Genetic Counseling: A Lifeline for Patients and Families featuring Laynie Dratch
PNTC’s genetic counselor Laynie Dratch was recently an invited guest on The Reflective Mind Podcast. Laynie shared information about what genetic counselors do, her concerns about what happens when people get genetic test results through direct-to-consumer testing without a genetic counselor to help, and what gives her hope for the future of neurogenetics. Check out the 12/8/2023 episode entitled "Genetic Counseling: A Lifeline for Patients and Families, with Laynie Dratch, ScM CGC" here.
December 8th, 2023 | The Reflective Mind Podcast
Genetic counselors often navigate difficult conversations regarding risk to family members when a genetic cause for a condition is found in the family. One option to reduce the risk of a genetic condition in future generations is called preimplantation genetic testing for monogenic disease (PGT-M). The genetic counselors and two neurologists at the University of Pennsylvania summarized the literature on this topic and shared their insights from discussing this option with families. Their paper “Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization, and Counseling" was recently published in Neurology. Click here to read the abstract.
November 7th, 2023 | Neurology
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts
The genetics counselors and neurologists at the University of Pennsylvania have collated the literature and their expertise on genetic testing for 10 neurological disorders. For each disorder, they describe the indication and yield of genetic testing, recommended the testing approach, and describe the clinic impact, emphasizing the specific diagnoses that are “actionable” because there are gene-specific therapies or clinical trials. Their paper, “Genetic testing in adults with neurologic disorders: Indications, approach, and clinical impacts,” was just published in the Journal of Neurology. Click here to read the full paper.
October 27th, 2023 | Journal of Neurology
Evidence-based consensus guidelines for ALS genetic testing and counseling
Two of our team members, Laynie Dratch and Lauren Elman, participated in the expert panel that helped solidify new evidence-based consensus guidelines for ALS genetic testing and counseling. Read more here: https://pubmed.ncbi.nlm.nih.gov/37691292/
September 10th, 2023 | Annals of Clinical and Translational Neurology
2023 United Leukodystrophy Foundation Family Conference: ALSP presented by Sister's Hope Foundation featuring Dr. Jennifer Orthmann-Murphy and Genetic Counselor Aaron Baldwin
July 27th, 2023 | United Leukodystrophy Foundation
A conversation with a genetic counselor featuring PNTC Genetic Counselor Laynie Dratch
May 9th, 2023 | Empowering Caregivers Workshop
What is it like to work with a Genetic Counselor? featuring PNTC Genetic Counselor Laynie Dratch
April 11th, 2023 | Remember Me Podcast
Genetic Counselling and Testing Webinar featuring PNTC Genetic Counselor Laynie Dratch
April 11th, 2023 | The International Alliance of ALS/MND Associations
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints
Relevant biomarkers as surrogate endpoints can enable clinic trials in neurogenetic diseases. In a paper just published in the Annals of Neurology, Dr. Scherer and his colleagues make the case that informative biomarkers can and should be used as endpoints in inherited genetic disorders.
March 9th, 2023 | Annals of Neurology
February 10th, 2023 | Davis Phinney Foundation for Parkinson's
Solving Medical Mysteries with Genetics: The Penn Neurogenetics Therapy Center
August 30, 2022 | by Kelsey Geesler
Blazing the Way for Next Generation Gene and Molecular Therapies
February 24, 2022 | by Kelsey Geesler
The significance of FTD genetic confirmation featuring PNTC Genetic Counselor Laynie Dratch
October 25th, 2021 | Rare Revolution Magazine
Neurogenetics Team Forms with "Tsunami" of Breakthroughs Looming
January 7, 2020 | Penn Medicine Neuroscience Blog
In Neurogenetics, Hoofbeats Mean Zebras, Not Horses
September 19, 2019 | by Hannah Messinger