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.

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.

Citation: Vizcarra JA, Paul RA, Hamedani AG, Lynch DR, Aamodt WW. Clinical Reasoning: A 48-Year-Old Man With Spasticity and Progressive Ataxia. Neurology. 2023 Oct 24;101(17):e1747-e1752.

Award Info: Neurology 2024 Highlights of the Resident & Fellow Section

SKYCLARYS Info: SKYCLARYS® (omaveloxolone) For Healthcare Professionals

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.

Did you know about our new VUS resolution clinic for adult patients with suspected neuromuscular diseases? Featuring PNTC faculty and genetic counselors

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

Enhancing Clinical Infrastructure for the Delivery of Intrathecal and Genetic Therapies: A Qalsody (Tofersen) Model for Patients With SOD1-ALS featuring PNTC Faculty and Genetic Counselors

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

Genetic and phenotypic characterization of Parkinson’s disease at the clinic-wide level featuring PNTC Faculty and Genetic Counselors

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

Disparities in Genetic Testing for Neurologic Disorders on the Neurology podcast featuring Aaron Baldwin

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

Disparities in Genetic Testing for Neurologic Disorders featuring Aaron Baldwin, Colin Ellis, and Juliette Copeland

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

The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics featuring PNTC Genetic Counselors

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

Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization, and Counseling

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