15q11.2 Microdeletion Overview

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Who are the top 15q11.2 Microdeletion Local Doctors?
Christa W. Habela
Elite in 15q11.2 Microdeletion
Pediatrics | Neurology | Pediatric Neurology
Elite in 15q11.2 Microdeletion
Pediatrics | Neurology | Pediatric Neurology

Johns Hopkins Outpatient Center

601 North Caroline Street, Floor 5, Floor 5, 
Baltimore, MD 
Experience:
18+ years
Languages Spoken:
English

Dr. Habela completed a Medical Scientist Training Program at the University of Alabama, Birmingham. She received her PhD in Neurobiology in 2008 and her MD in 2010. After medical school, she specialized in child neurology, and completed 2 years of pediatrics residency and 3 years of child neurology residency at the Johns Hopkins Hospital in 2015. She then completed another 2 years of training specifically focused on the diagnosis, characterization and medical and surgical management of patients with epilepsy during an Epilepsy Fellowship at Johns Hopkins. Dr. Habela’s clinic specializes in pediatric neurology and epilepsy. Her clinical focus in on the care of patients with severe epilepsy with or without other neurodevelopmental disorders that have not been easily controlled with medications. She is also focused on the genetic causes of epilepsy and other neurodevelopmental disabilities with the hope that increasing our understanding of the genetic causes of epilepsy and neurodevelopmental disabilities will improve treatment. Dr. Habela’s basic science research is focused on the genetic mechanisms regulating appropriate proliferation, migration and integration of neurons and glial cells in both the prenatal and postnatal developing brain and how aberrations in these processes result in neurodevelopmental disabilities. Her hypothesis is that deregulation of pre and postnatal neurogenesis and synaptogenesis contributes to the behavioral phenotypes observed in many forms of intellectual disability, epilepsy and autism. Her research applies what we know from human genetic studies to basic science studies examining how specific genetic changes alter neurogenesis, synaptogenesis and overall excitation / inhibition balance in laboratory model systems. Her goal is to provide a better understanding of the molecular mechanisms of these processes and, in turn, possibly identify specific targets for disease modifying treatments for epilepsy. Contact for Research Inquiries 600 N. Wolfe Street Meyer 2-147 Baltimore, MD 21287 Phone: (410) 955-9100. Dr. Habela is rated as an Elite provider by MediFind in the treatment of 15q11.2 Microdeletion. Her top areas of expertise are 15q11.2 Microdeletion, Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Epilepsy, and Endovascular Embolization.

Nicholas J. Maragakis
Elite in 15q11.2 Microdeletion
Neuromusculoskeletal Medicine
Elite in 15q11.2 Microdeletion
Neuromusculoskeletal Medicine

Johns Hopkins Outpatient Center

601 North Caroline Street, Floor 5, Floor 5, 
Baltimore, MD 
Languages Spoken:
English

Nicholas Maragakis treats patients with motor neuron diseases, such as amyotrophic lateral sclerosis (ALS). This care is coordinated with the Johns Hopkins Center for ALS Specialty Care, a multidisciplinary clinic with expertise in treating patients with ALS and providing support to their caregivers. He serves as medical director of the ALS Clinical Trials Unit, an extension of the multidisciplinary clinic that seeks to facilitate opportunities for patients with ALS to participate in clinical trials that could advance the treatment of this disease. Dr. Maragakis is interested in the basic science of understanding neurodegenerative diseases, as well as the translational potential of therapeutic compounds developed in the laboratory. His fundamental research interest is in using stem cells — more specifically, stem cell-derived motor neurons and glia — for understanding the development and propagation of ALS. His laboratory has been involved in creating and characterizing lines of stem cells from patients with ALS using induced pluripotent stem cell (iPSC) methodologies. The laboratory has a large library of iPSCs from patients with familial ALS and from patients with sporadic ALS. The utilization of this library of iPSCs has facilitated the development of a spinal cord-specific iPSC-astrocyte/motor neuron co-culture system, which has been leveraged for the development of assays that can be used for both the basic understanding of ALS astrocyte and motor neuron biology as well as, eventually, drug screening for ALS therapeutics. His laboratory has taken its long-standing interests in astrocyte biology, as it relates to ALS, to develop a program that investigates astrocyte-specific mechanisms as contributors to the progression (both temporally and anatomically) of disease in ALS. In this vein, there is an interest in astrocytic glutamate transporters and, more recently, astrocyte hemichannels and gap junctions. Dr. Maragakis is rated as an Elite provider by MediFind in the treatment of 15q11.2 Microdeletion. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, 15q11.2 Microdeletion, and Spinal Muscular Atrophy (SMA).

 
 
 
 
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Arens Taga
Elite in 15q11.2 Microdeletion
Neuromusculoskeletal Medicine | Neurology
Elite in 15q11.2 Microdeletion
Neuromusculoskeletal Medicine | Neurology

Johns Hopkins Outpatient Center

Baltimore, MD 
Languages Spoken:
English, Albanian, Italian

Arens Taga is a neurologist specializing in neuromuscular diseases, with a particular focus on amyotrophic lateral sclerosis (ALS) and other motor neuron diseases. His clinical work aims to improve the quality of care for patients with ALS through biomarker-based, precision medicine approaches that refine disease stratification and facilitate more targeted and efficient enrollment in clinical trials. As a clinician-scientist, Dr. Taga uses patient-derived induced pluripotent stem cells to model ALS, uncover novel disease mechanisms and identify therapeutic targets that are translatable to clinical trials. In recognition of his work in ALS, Dr. Taga was awarded the 2025 Richard Olney Clinician Scientist Development Award, which honors early-career physician-scientists dedicated to advancing ALS research. Dr. Taga earned his medical degree from the School of Medicine and Surgery at the University of Parma, Italy, where he also completed his neurology residency. He subsequently trained at The Johns Hopkins University, completing a postdoctoral research fellowship in the neuromuscular division, an internal medicine internship, a neurology residency and a neuromuscular clinical fellowship. Dr. Taga is rated as an Elite provider by MediFind in the treatment of 15q11.2 Microdeletion. His top areas of expertise are 15q11.2 Microdeletion, Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Cluster Headache.

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