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Epigenetics and Chromatin Clinic

The Epigenetics and Chromatin Clinic was the first of its kind in the U.S. Our experts have been caring for patients with epigenetic conditions since 2012. Together, our providers have over 50 years of experience in epigenetics, having trained in some of the world’s best-known epigenetics research laboratories, and now they direct their own research laboratories and the Epigenetics and Chromatin Clinic.

 

Our clinical mission

  • To diagnose, provide optimal care for, and develop treatment plans for patients with Mendelian disorders of the epigenetic machinery or imprinting disorders.

  • To learn from our patients some fundamental truths about epigenetics with the hope that this additional knowledge will lead to future therapeutic development for our patients.

  • To educate health care providers and patients about epigenetics and disorders of the epigenetic machinery.

Our clinical expertise

Who should be evaluated in the Epigenetics and Chromatin Clinic?

  • Individuals known to have a Mendelian disorder of the epigenetic machinery (MDEM) or an imprinting disorder 

  • Individuals suspected of having an MDEM or imprinting disorder

  • Individuals with intellectual disability or global developmental delay and growth differences

Services We Provide

  • Full clinical genetics evaluations
  • Genetic counseling
  • Comprehensive or targeted genetic testing
  • Brief developmental assessments 
  • Referrals for more extensive developmental and cognitive assessments
  • Recommendations on medical and behavioral interventions
  • Recommendations for schooling, including individualized education program (IEP) recommendations
  • Options for clinical trials that test the latest experimental therapies for epigenetics syndromes
  • Research opportunities

Conditions We Treat

Gene

Condition

KMT2D

Kabuki syndrome 1

KDM6A

Kabuki syndrome 2

KMT2A

Wiedemann-Steiner syndrome

TET3

Beck-Fahrner syndrome

NSD1

Sotos syndrome

EZH2

Weaver syndrome

EED

Cohen-Gibson syndrome

DNMT3A

Tatton-Brown-Rahman syndrome; Heyn-Sproul-Jackson syndrome

SETD2

Luscan-Lumish syndrome

EHMT1

Kleefstra syndrome 1

KMT2C

Kleefstra syndrome 2

CREBBP

Rubinstein-Taybi syndrome 1

EP300

Rubinstein-Taybi syndrome 2

KAT6A

Arboleda-Tham syndrome

KAT6B

Say Barber Biessecker Young Simpson syndrome (SBBYSS); Genitopatellar syndrome

CHD1

Pilarowski-Bjornsson syndrome

CHD2

Developmental and epileptic encephalopathy 94

CHD3

Snijders Blok-Campeau syndrome

CHD4

Sifrim-Hitz-Weiss syndrome

CHD5

Parenti-Mignot neurodevelopmental syndrome

CHD7

CHARGE/hypogonadotropic hypogonadism

CHD8

Intellectual developmental disorder with autism and macrocephaly

MBD5

Intellectual developmental disorder, autosomal dominant 1

MECP2

Rett syndrome and related disorders

PHF6

Borjeson-Forssman-Lehmann syndrome

SMARCA4

Coffin-Siris syndrome 4

SMARCA2

Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome

DPF2

Coffin Siris syndrome 7

ATRX

Alpha-thalassemia/mental retardation syndrome; Intellectual disability-hypotonic facies syndrome, X-linked

SRCAP

Floating Harbor syndrome; developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities

SETD5

Intellectual developmental disorder, autosomal dominant 23

SETD1A

Epilepsy, early onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies

SETD1B

Intellectual developmental disorder with seizures and language delay

RAI1

Smith Magenis syndrome

KDM1A

Cleft palate, psychomotor retardation, and distinctive facial features (CPFR)

KDM6B

Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities

KDM5C

Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type

KDM5B

Intellectual developmental disorder, autosomal recessive 65

PHF8

Intellectual developmental disorder, X-linked syndromic, Siderius type

DNMT1

Autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCADN); hereditary sensory neuropathy 1E (HSN1E)

DNMT3B

Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome 1

NSD2

Rauch-Steindl syndrome (formerly Wolf-Hirschhorn syndrome)

HDAC4

Neurodevelopmental disorder with central hypotonia and dysmorphic facies (formerly brachydactyly mental retardation syndrome)

HDAC6

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

HDAC8

Cornelia De Lange syndrome, type 5

ASH1L

Intellectual developmental disorder, autosomal dominant 52

ASXL1

Bohring-Opitz syndrome

ASXL2

Shashi-Pena syndrome

ASXL3

Bainbridge-Ropers syndrome

BRWD3

Intellectual developmental disorder, X-linked 93

BPTF

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

BRPF1

Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP)

KMT2B

Childhood-onset dystonia 28; Intellectual developmental disorder, autosomal dominant 68

KMT2E

O’Donnell-Luria-Rodan syndrome

KMT5B

Intellectual developmental disorder, autosomal dominant 51

KDM3B

Diets-Jongmans syndrome

KDM4B

Intellectual developmental disorder, autosomal dominant 65

KAT5

Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities

KAT8

Li-Ghorgani-Weisz-Hubshman syndrome

PHIP

Chung-Jansen syndrome

RERE

Neurodevelopmental disorder with or without anomalies of the brain, eye or heart

PHF21A

Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures

TCF20

Developmental delay with variable intellectual impairment and behavioral abnormalities

UBR7

Li-Campeau syndrome

TAF1

Intellectual developmental disorder, X-linked syndromic 33

ZMYND11

Intellectual developmental disorder, autosomal dominant 30

ALG13

Developmental and epileptic encephalopathy 36

ORC1

Meier-Gorlin syndrome 1

MSL3

Basilicata-Akhtar syndrome

LBR

Pelger Huet anomaly (PHA) PHA with muskuloskeletal findings Greenberg skeletal dysplasia

Additional Mendelian Disorders of the Epigenetic Machinery (MDEMs)

Gene

SMN1

Condition

Spinal muscular atrophy 1-4

Recommendation

*Neuromuscular evaluation preferred

MORC2

Charcot-Marie-Tooth disease 2Z

*Primary neurology evaluation preferred

PRDM12

Hereditary sensory and autonomic neuropathy (HSAN) 8

*Primary neurology evaluation preferred

PRDM16

Dilated cardiomyopathy 1LL; left ventricular non-compaction 8

*Cardiology evaluation preferred

PRDM6

Patent ductus arteriosus 3

*Cardiology evaluation preferred

PRDM5

Brittle cornea syndrome 2

*Ophthalmology evaluation preferred

TDRD7

Cataract 36

*Ophthalmology evaluation preferred

MSH6

Hereditary nonpolyposis colorectal cancer 5 mismatch repair cancer syndrome

*Oncology evaluation preferred

CBX2

Sex reversal

*Endocrinology or Disorders/Differences of Sexual Development Clinic evaluation preferred

HR

Alopecia universalis; Atrichia with papular lesions; hypotrichosis type 4

*Dermatology evaluation preferred

TET2

Immunodeficiency 75; myelodysplastic syndrome, somatic

*Immunology or hematology/oncology     evaluation preferred

AIRE

Autoimmune polyendocrinopathy syndrome 1

*Immunology evaluation preferred

RAG2

Omenn syndrome and severe combined immunodeficiency (SCID)

*Immunology evaluation preferred

SP110

Hepatic venoocclusive disease and immune deficiency

*Immunology evaluation preferred

Note: The above is a complete list of the MDEMs. We care for individuals with many of the disorders shown in black. However, for the disorders that are grayed out, our clinic may not be the most appropriate place to obtain medical care; for those, more appropriate specialty clinics are listed.

Schedule An Appointment

To schedule an appointment, please call 410-955-3071 (new patients) or 443-287-9494 (returning patients) and request an appointment in the Epigenetics and Chromatin Clinic with Dr. Fahrner. An appointment with Dr. Fahrner will allow you to be evaluated by Dr. Fahrner, Dr. Harris and Ms. Britton.