The 20 Best Bardet-Biedl Syndrome Doctors Near Me in Pennsylvania, US

Find the Top Bardet-Biedl Syndrome Experts and Specialists

The 20 Best Bardet-Biedl Syndrome Doctors in Pennsylvania, US

Last Updated: 02/22/2026

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MediFind found 106 doctor with experience in Bardet-Biedl Syndrome near Pennsylvania, US. Of these, 102 are Experienced and 4 are Advanced.

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106 providers found
    Joseph J. Melvin
    Experienced in Bardet-Biedl Syndrome
    Experienced in Bardet-Biedl Syndrome

    St. Christopher's Pediatric Associates Neurology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Melvin is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are West Syndrome, Generalized Tonic-Clonic Seizure, Phenylketonuria (PKU), and Seizures.

    Experienced in Bardet-Biedl Syndrome
    Cardiology | Internal Medicine
    Experienced in Bardet-Biedl Syndrome
    Cardiology | Internal Medicine

    Hospital Of The University Of Pennsylvania

    Radiology Cardiovascular Imaging Section, 3400 Spruce Street, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Lefebvre is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Sengers Syndrome, Heart Failure, Familial Hypertrophic Cardiomyopathy, Patent Foramen Ovale, and Patent Foramen Ovale Repair.

    Sameh S. Morkous
    Experienced in Bardet-Biedl Syndrome
    Neurology | Sleep Medicine
    Experienced in Bardet-Biedl Syndrome
    Neurology | Sleep Medicine

    St. Christopher's Pediatric Associates Neurology - Jenkintown

    500 York Rd, 
    Jenkintown, PA 
    Languages Spoken:
    English

    . Dr. Morkous is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Seizures, Generalized Tonic-Clonic Seizure, Cramp-Fasciculation Syndrome, and GAPO Syndrome.

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    Alan B. Chelius
    Experienced in Bardet-Biedl Syndrome
    Family Medicine
    Experienced in Bardet-Biedl Syndrome
    Family Medicine

    Reading Hospital

    420 South 5th Avenue, 
    West Reading, PA 
    Languages Spoken:
    English

    . Dr. Chelius is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Infant Hyperglycemia.

    Dronacharya Lamichhane
    Experienced in Bardet-Biedl Syndrome
    Experienced in Bardet-Biedl Syndrome

    Reading Hospital Neurology Suite 104

    2603 Keiser Blvd, Ste 104, 
    Wyomissing, PA 
    Languages Spoken:
    English
    Offers Telehealth

    . Dr. Lamichhane is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Movement Disorders, Parkinson's Disease, Secondary Parkinsonism, and Supranuclear Ophthalmoplegia.

    Daphne M. Hasbani
    Experienced in Bardet-Biedl Syndrome
    Experienced in Bardet-Biedl Syndrome

    St. Christopher's Pediatric Associates Neurology - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Hasbani is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Seizures, Tetrasomy X, Epilepsy Juvenile Absence, and Absence Seizure.

    Gabriel R. Pilar
    Experienced in Bardet-Biedl Syndrome
    Experienced in Bardet-Biedl Syndrome

    Reading Hospital Neurology Suite 210

    301 S 7th Ave, Ste 210, 
    West Reading, PA 
    Languages Spoken:
    English
    Offers Telehealth

    . Dr. Pilar is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Activated PI3K Delta Syndrome (APDS), Guillain-Barre Syndrome, Chronic Polyradiculoneuritis, and Miller-Fisher Syndrome.

    Hema R. Murali
    Advanced in Bardet-Biedl Syndrome
    Pediatric Neurology | Sleep Medicine
    Advanced in Bardet-Biedl Syndrome
    Pediatric Neurology | Sleep Medicine

    GWVMC MOB Neurology

    950 East Mountain Boulevard, 
    Bear Creek Township, PA 
    Languages Spoken:
    English, Hindi, Kannada
    Accepting New Patients

    Hema Murali, MD, is a pediatric neurologist specializing in sleep medicine. She provides treatment for a variety of neurological conditions including headaches, seizures, syncope, epilepsy, developmental delay, tics, movement disorders, weakness, numbness, nerve palsies, strokes, bleeds in the brain, tremors, cognitive decline, autism, problems with cranial nerves, muscles or eye movements, altered sensorium, dizziness, closed head injury, concussion, nerve injury, brain malformations, hydrocephalus, skull abnormalities, optic neuritis and multiple sclerosis.|Dr. Murali performs procedures and tests that include EEG, EMG, nerve conduction studies, MSLT and sleep studies.|She also treats sleep disorders including excessive daytime sleepiness, difficulties with falling asleep and staying asleep, sleep apnea, narcolepsy, parasomnias, sleep associated movement disorders and cataplexy.|Dr. Murali attended Mysore Medical College in Mysore, India, where she earned her medical degree. After medical school, she completed her residency at the Albert Einstein Healthcare Network in Philadelphia. She followed that with a fellowship at the Mayo Clinic College of Medicine and Science in Rochester, MN.|The thing she loves most about her job is interacting with her patients and their families. “The privilege of being a part of a trusted team to take care of a precious child's health is what brings me to work every day. There is immense joy and fulfilment in caring for children and being a trusted part of the team in this relationship,” she says.|Originally from India, Dr. Murali moved to the East Coast from Wisconsin to be closer to her children and extended family.|“I have been the service line medical director of neurosciences in a large multispecialty organization for several years,” she says. “In this role, I was able to stabilize and grow the department. I developed many new services and of course many new relationships that I still maintain. I have also been an integral part of a team running the Bardet-Biedl center of excellence for all of North America, and hope to establish one in the East as well.|Dr. Murali and her husband, a Geisinger nephrologist, have two children who are attending college. “We have a beautiful goldendoodle, who is smarter than our children, and very loving. We are a sandwich generation, and our parents live with us as well,” she says.|In her spare time, she enjoys walking her dog, hiking, biking, reading and traveling with family and friends. Dr. Murali is rated as an Advanced provider by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Bardet-Biedl Syndrome, Myoclonic Epilepsy, and Dravet Syndrome.

    Experienced in Bardet-Biedl Syndrome
    Medical Genetics
    Experienced in Bardet-Biedl Syndrome
    Medical Genetics

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Perszyk is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3.

    Experienced in Bardet-Biedl Syndrome
    Family Medicine
    Experienced in Bardet-Biedl Syndrome
    Family Medicine

    Boyertown Medical Associates

    23 N Walnut St, 
    Boyertown, PA 
    Languages Spoken:
    English

    . Dr. Harrison is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Homozygous Familial Hypercholesterolemia (HoFH), Heterozygous Familial Hypercholesterolemia (HeFH), Defective Apolipoprotein B-100, and Hyperlipoproteinemia Type 4.

    Advanced in Bardet-Biedl Syndrome
    Advanced in Bardet-Biedl Syndrome

    Penn Neuroscience Center - Neurology

    3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Eric Lancaster is a Neurologist in Philadelphia, Pennsylvania. Dr. Lancaster is rated as an Advanced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Encephalitis, Paraneoplastic Cerebellar Degeneration, Anti-NMDA Receptor Encephalitis, and Isaacs' Syndrome. Dr. Lancaster is currently accepting new patients.

    Paul Demjanenko
    Experienced in Bardet-Biedl Syndrome
    Experienced in Bardet-Biedl Syndrome

    UPMC Heart And Vascular Institute

    120 East 2nd Street, Floor 2, 
    Erie, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Paul Demjanenko, MD, specializes in cardiology and is certified in internal medicine and cardiovascular disease by the American Board of Internal Medicine. He practices at Chautauqua Medical Services - Great Lakes Physician Practice and is affiliated with UPMC Hamot and UPMC Northwest. Dr. Demjanenko earned his medical degree at Drexel/Hahnemann University College of Medicine. Dr. Demjanenko is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Peripheral Artery Disease, Arterial Insufficiency, Arterial Embolism, Carotid Artery Disease, and Angioplasty.

    Randy Jeffrey
    Experienced in Bardet-Biedl Syndrome
    Experienced in Bardet-Biedl Syndrome

    UPMC Heart And Vascular Institute

    120 East 2nd Street, Floor 2, 
    Erie, PA 
    Languages Spoken:
    English, French
    Accepting New Patients

    Randy Jeffrey, MD, PhD, specializes in cardiology and is certified in cardiovascular disease and internal medicine by the American Board of Internal Medicine. He practices at Chautauqua Medical Services - Great Lakes Physician Practice and is affiliated with UPMC Hamot, UPMC Presbyterian, and UPMC Northwest. Dr. Jeffrey earned his medical degree at Indiana University School of Medicine. Dr. Jeffrey is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Apoplexy, Atrial Fibrillation, Jervell Lange-Nielsen Syndrome (JLNS), and Long QT Syndrome 1.

    Katherine L. Nathanson
    Experienced in Bardet-Biedl Syndrome
    Experienced in Bardet-Biedl Syndrome

    Penn Translational Medicine And Human Genetics

    3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Katherine Nathanson is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Nathanson is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Cowden Syndrome, Neuroendocrine Tumor, Peutz-Jeghers Syndrome, and Hypothalamic Hamartomas. Dr. Nathanson is currently accepting new patients.

    Michael L. Ramsey
    Experienced in Bardet-Biedl Syndrome
    Experienced in Bardet-Biedl Syndrome

    Geisinger Healthplex Woodbine - Dermatology MOHS

    16 Woodbine Lane, 
    Danville, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Dr. Ramsey is a board-certified dermatologist specializing in Mohs surgery. He attended the Baylor College of Medicine, where he received his medical degree and also completed his residency. He completed his fellowship in dermatologic surgery at Geisinger Medical Center. Dr. Ramsey is certified by the American Board of Dermatology. Dr. Ramsey is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Basal Cell Skin Cancer, Squamous Cell Skin Carcinoma, Head and Neck Squamous Cell Carcinoma (HNSCC), and Bowen's Disease.

    Laura Ferris
    Experienced in Bardet-Biedl Syndrome
    Dermatology
    Experienced in Bardet-Biedl Syndrome
    Dermatology

    Office

    3601 5th Ave Ste 5A, 
    Pittsburgh, PA 
    Languages Spoken:
    English

    Laura Ferris is a Dermatologist in Pittsburgh, Pennsylvania. Dr. Ferris is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Psoriasis, Plaque Psoriasis, Melanoma, and Familial Atypical Multiple Mole Melanoma Syndrome.

    Sara L. Partington
    Experienced in Bardet-Biedl Syndrome
    Experienced in Bardet-Biedl Syndrome

    Penn Heart And Vascular Center

    3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Sara Partington is a Cardiologist in Philadelphia, Pennsylvania. Dr. Partington is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Congenital Heart Disease (CHD), Tetralogy of Fallot, Pediatric Myocarditis, Tricuspid Atresia, and Thrombectomy. Dr. Partington is currently accepting new patients.

    Yuli Y. Kim
    Experienced in Bardet-Biedl Syndrome
    Cardiology
    Experienced in Bardet-Biedl Syndrome
    Cardiology

    Penn Heart And Vascular Center

    3400 Civic Center Boulevard, East Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Yuli Kim is a Cardiologist in Philadelphia, Pennsylvania. Dr. Kim is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Congenital Heart Disease (CHD), Tetralogy of Fallot, Bicuspid Aortic Valve, Heart Transplant, and Thrombectomy. Dr. Kim is currently accepting new patients.

    Elizabeth C. Caris
    Experienced in Bardet-Biedl Syndrome
    Pediatric Cardiology
    Experienced in Bardet-Biedl Syndrome
    Pediatric Cardiology

    Pediatric Cardiology In Lawrenceville

    4401 Penn Avenue, 
    Pittsburgh, PA 
    Languages Spoken:
    English, French
    Accepting New Patients
    Offers Telehealth

    Elizabeth C. Caris, MD, specializes in pediatric cardiology and is board-certified in pediatric cardiology and pediatrics by the American Board of Pediatrics. She is affiliated with UPMC Children's Hospital of Pittsburgh, UPMC Altoona, UPMC Passavant and UPMC Bedford. Dr. Caris completed her medical education at The Ohio State University College of Medicine, residency at Nationwide Children's Hospital, and fellowships at University of Pittsburgh School of Medicine and Seattle Children's Hospital. Dr. Caris is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Hypoplastic Left Heart Syndrome (HLHS), Partial Atrioventricular Canal, Congenital Heart Disease (CHD), and Ventricular Septal Defects.

    Nicholas E. Lamparella
    Experienced in Bardet-Biedl Syndrome
    Hematology | Oncology
    Experienced in Bardet-Biedl Syndrome
    Hematology | Oncology

    LVH Hematology Oncology-1240 Cedar Crest

    1240 S Cedar Crest Blvd, Suite 401, 
    Allentown, PA 
    Languages Spoken:
    English, Spanish
    Offers Telehealth

    Philosophy of care | My philosophy is to treat others as I would like to be treated. I enjoy helping patients understand their medical problem in order to make an informed decision. | Also, I am a member of the breast cancer and genetic cancer multidisciplinary consultation teams. Together we review your diagnostic information and give you a written opinion reflecting the scope of your condition and recommendations for your best course of care. | Why I entered medicine | My uncle is an emergency medicine physician who inspired me to become a doctor and encouraged me through my training. To this day, I still seek his advice. I chose hematology oncology because I enjoy taking care of patients who are confronting serious health challenges. My mother had breast cancer and she was helped greatly by her physicians and a recently developed targeted therapy called Herceptin. I feel optimistic that the field is rapidly evolving due to scientific breakthroughs and will continue to do so throughout my career. I want to be a part of helping people during this exciting time. | Community involvement | I volunteered in a free clinic during my training. | Personal interests | I’m married and have two boys. I like to stay active. I teach my boys sports, go hiking or take my golden retriever, Charlie, for a walk. Dr. Lamparella is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Paget Disease of the Breast, Breast Cancer, Inflammatory Breast Cancer, Tissue Biopsy, and Bone Marrow Aspiration.

    Showing 1-20 of 106

    Last Updated: 02/22/2026

    What is the definition of Bardet-Biedl Syndrome?

    Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

    When should I see a Bardet-Biedl Syndrome doctor in Pennsylvania, US?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Bardet-Biedl Syndrome doctor in Pennsylvania, US?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How does MediFind rank Bardet-Biedl Syndrome doctors in Pennsylvania, US?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Bardet-Biedl Syndrome doctors in Pennsylvania, US?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Bardet-Biedl Syndrome doctor in Pennsylvania, US?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Bardet-Biedl Syndrome doctor search results page. 

    Why is it important to get a second opinion from a different Bardet-Biedl Syndrome doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Bardet-Biedl Syndrome doctor in Pennsylvania, US?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Bardet-Biedl Syndrome doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Bardet-Biedl Syndrome doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Bardet-Biedl Syndrome doctors in Pennsylvania, US?

    Look for the filter feature on the left side of the Bardet-Biedl Syndrome doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Bardet-Biedl Syndrome doctor that offers video calls?

    Look for the filter feature on the left-side of the Bardet-Biedl Syndrome doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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