Bardet-Biedl syndrome (BBS)

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Departments that treat this condition

Areas that research this condition

Doctors who treat this condition

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Displaying 1-10 out of 11 doctors available

  1. Bridget K. Biggs, Ph.D., L.P.

    Bridget K. Biggs, Ph.D., L.P.

    1. Psychologist
    1. Rochester, MN
    Areas of focus:

    Psychological assessment, Anxiety disorder, Chronic pain, Generalized anxiety disorder, Bardet-Biedl syndrome, Weight

  2. Carl H. Cramer, II, M.D.

    Carl H. Cramer, II, M.D.

    1. Transplant Nephrologist
    2. Pediatrician
    3. Pediatric Nephrologist
    1. Rochester, MN
    Areas of focus:

    Kidney transplant, Hemodialysis, Peritoneal dialysis, Dialysis, High blood pressure, Polycystic kidney disease, Hydrone...phrosis, Kidney infection, Blood in urine, Urinary tract infection, Thin basement membrane disease, Chronic kidney disease, End-stage renal disease, Glomerulonephritis, Nephrotic syndrome, High blood pressure in children, Renal artery stenosis, IgA nephropathy, Kidney cyst, Acute kidney inury, Tuberous sclerosis, Focal segmental glomerulosclerosis, Lupus nephritis, Secondary high blood pressure, Medullary sponge kidney, Nail disease, Minimal change disease, Renovascular disease, Nephritis, Hereditary nephritis, Protein in urine, Bardet-Biedl syndrome, Post-transplant hypertension, Malignant hypertension, Single kidney, Childhood nephrotic syndrome, Membranoproliferative glomerulonephritis, Interstitial nephritis, Kidney failure, Shrinking kidney, Renal tubular acidosis, Kidney injury, Multicystic kidney dysplasia, Postural proteinuria, Horseshoe kidney, Kidney angiomyolipoma, Renovascular hypertension, Glomerular disease, Congenital kidney disorder

  3. Raymond Iezzi, Jr., M.D.

    Raymond Iezzi, Jr., M.D.

    1. Ophthalmologist
    1. Rochester, MN
    Areas of focus:

    Retinal disease, Bardet-Biedl syndrome, Vitreous detachment

  4. Afton Koball, Ph.D., L.P.

    Afton Koball, Ph.D., L.P.

    1. Psychologist
    1. Rochester, MN
    Areas of focus:

    Bardet-Biedl syndrome

  5. Seema Kumar, M.D.

    Seema Kumar, M.D.

    1. Pediatrician
    2. Pediatric Endocrinologist
    1. Rochester, MN
    Areas of focus:

    Type 2 diabetes in children, Congenital adrenal hyperplasia, Type 1 diabetes in children, Childhood obesity, Bardet-Bie...dl syndrome

  6. Brendan C. Lanpher, M.D.

    Brendan C. Lanpher, M.D.

    1. Medical Geneticist
    1. Rochester, MN
    Areas of focus:

    Neurodevelopmental disorder, Metabolic disorders, Genetic disorder, Bardet-Biedl syndrome, Vascular malformation

  7. Kalpana Muthusamy, M.D.

    Kalpana Muthusamy, M.D.

    1. Endocrinologist
    1. Rochester, MN
    Areas of focus:

    Obesity, Diabetes, Prader-Willi syndrome, Bardet-Biedl syndrome

  8. Amy E. Rabatin, M.D.

    Amy E. Rabatin, M.D.

    1. Pediatric Physiatrist
    1. Rochester, MN
    Areas of focus:

    Ultrasound, Spinal cord rehabilitation, Musculoskeletal exam, Botox injection, Ultrasound-guided musculoskeletal inject...ion, Cancer rehabilitation, Joint examination, Brain rehabilitation, Intramuscular injection, Amputation rehabilitation, Outpatient clinical consultation, Inpatient rehabilitation , Ultrasound-guided injection, Exercise therapy, Physical examination, Joint injection, Sport specific rehabilitation, Spasticity therapy, Pediatric rehabilitation, Neurological rehabilitation, Injection, Cancer, Concussion, Brain cancer, Brain tumor, Back pain, Brachial plexus injury, Arthritis, Spina bifida, Pediatric brain tumor, Muscular dystrophy, Sports injury, Juvenile arthritis, Spinal cord injury, Charcot-Marie-Tooth disease, Flatfeet, Dystonia, Traumatic brain injury, Neuromuscular disorder, Pediatric trauma, Muscle weakness, Neurodevelopmental disorder, Acquired brain disorder, Angelman syndrome, Foot drop, Cerebral palsy, Pediatric hip disorders, Hemiparesis, Plagiocephaly, Joint hypermobility, Gait unsteadiness, Sacral agenesis, Gait disturbance, Spinal muscular atrophy, Autoimmune neurological disorder, Functional limitation, Spasticity, Inflammatory arthritis, Atypical teratoid rhabdoid tumor, Neuropathy, Neurologic muscle weakness, In-toeing, Contracture, Bardet-Biedl syndrome, Hemiplegia

  9. Lisa A. Schimmenti, M.D.

    Lisa A. Schimmenti, M.D.

    1. Medical Geneticist
    2. Pediatrician
    1. Rochester, MN
    Areas of focus:

    Genetic testing, Newborn screening, Retinitis pigmentosa, Hearing loss, Genetic disorder, Bardet-Biedl syndrome, Eye pr...oblem, Hearing loss in children

  10. Brittni A. Scruggs, M.D., Ph.D.

    Brittni A. Scruggs, M.D., Ph.D.

    1. Ophthalmologist
    1. Rochester, MN
    Areas of focus:

    Gene therapy, Genetic counseling, Photodynamic therapy, Visual electrophysiology, Optical coherence tomography, Anti-VE...GF injection therapy, Retinal exam, Retinal surgery, Retinal angiogram, Eye injection, Lens replacement surgery, Scleral buckling, Laser eye surgery, Vitrectomy, Macular degeneration, Diabetic retinopathy, Stickler syndrome, Retinal detachment, Genetic eye disease, Retinal disease, Eye floaters, Pediatric trauma, Retinal artery occlusion, Retinitis pigmentosa, Eye injury, Macular hole, Epiretinal membrane, Bardet-Biedl syndrome, Retinal vein occlusion, Retinal degeneration, Stargardt's disease, Vitreous detachment, Eye infection, Macular edema, Retinopathy of prematurity, Best vitelliform macular dystrophy, Vitreous hemorrhage, Inherited retinal disorders

Research

Scientists at Mayo Clinic do research, including clinical trials, to improve early diagnosis and treatment of genetic conditions, such as Bardet-Biedl syndrome. Mayo Clinic experts do research in ophthalmology, pediatric and adult endocrinology, clinical genomics, and pediatric nephrology.

Mayo Clinic is recognized for outstanding contributions to research in genetics and genomics. Patients may have opportunities to participate in genetic research studies to improve care. Mayo's Center for Individualized Medicine is involved in translating the latest scientific advances to clinical care.

Publications

See a list of publications about Bardet-Biedl syndrome by Mayo Clinic doctors on PubMed, a service of the National Library of Medicine.

Research Profiles

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By Mayo Clinic Staff

Bardet-Biedl syndrome (BBS) care at Mayo Clinic

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Diagnosis & treatmentCare at Mayo Clinic
Sept. 05, 2025
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Bardet-Biedl syndrome (BBS)

Research: It's all about patients

[MUSIC PLAYING]

Joseph Sirven, M.D., Professor of Neurology, Mayo Clinic: Mayo's mission is about the patient. The patient comes first. So the mission and research here is to advance how we can best help the patient, how to make sure the patient comes first in care. So in many ways, it's a cycle. It can start with as simple as an idea worked on in a laboratory, brought to the patient bedside, and if everything goes right — and let's say it's helpful or beneficial — then brought on as a standard approach. And I think that is one of the unique characteristics of Mayo's approach to research — that patient-centeredness — that really helps to put it in its own spotlight.